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Gene: Vangl2 MGI:2135272

Gene Summary

Name:

VANGL planar cell polarity 2

Synonyms:

ska^m17Jus, Lpp1, Lootl, C530001F03Rik, loop-tail, strabismus, ska17, Ltap

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal craniofacial morphology	Vangl2^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Vangl2^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased circulating phosphate level	Vangl2^em1(IMPC)Mbp	HET	Early adult	6.70×10^-06
persistence of hyaloid vascular system	Vangl2^em1(IMPC)Mbp	HET	Early adult	2.30×10^-09
curly tail	Vangl2^Lp	HET	Early adult	4.80×10^-07
abnormal head shape	Vangl2^em1(IMPC)Mbp	HOM	E15.5	0.00
increased circulating glucose level	Vangl2^Lp	HET	Early adult	9.36×10^-05
abnormal placenta morphology	Vangl2^em1(IMPC)Mbp	HET	E15.5	0.00
kinked tail	Vangl2^Lp	HET	Early adult	3.56×10^-13
decreased circulating HDL cholesterol level	Vangl2^Lp	HET	Early adult	2.88×10^-05
abnormal retina morphology	Vangl2^em1(IMPC)Mbp	HET	Early adult	1.33×10^-06
preweaning lethality, complete penetrance	Vangl2^em1(IMPC)Mbp	HOM	Early adult	0.00
cleft palate	Vangl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal tail morphology	Vangl2^em1(IMPC)Mbp	HOM	E15.5	0.00
preweaning lethality, complete penetrance	Vangl2^Lp	HOM	Early adult	0.00
abnormal snout morphology	Vangl2^Lp	HET	Early adult	5.08×10^-07
exencephaly	Vangl2^em1(IMPC)Mbp	HOM	E15.5	0.00
decreased circulating cholesterol level	Vangl2^Lp	HET	Early adult	5.94×10^-11
abnormal tail movements	Vangl2^Lp	HET	Early adult	3.71×10^-06
abnormal placenta morphology	Vangl2^em1(IMPC)Mbp	HOM	E15.5	0.00
microphthalmia	Vangl2^em1(IMPC)Mbp	HET	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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Gross Morphology Embryo E14.5-E15.5

Images

19 Images

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Human diseases caused by Vangl2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Vangl2 (3 diseases)
Human diseases predicted to be associated with Vangl2 (2856 diseases)

The table below shows human diseases associated to Vangl2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Neural Tube Defects, Susceptibility To	Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints...	OMIM:182940
Isolated Anencephaly	Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Isolated Exencephaly	Low-set ears, Holoprosencephaly, Depressed nasal bridge	ORPHA:563612

The table below shows human diseases predicted to be associated to Vangl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility, Lack of oocyte pronucleus formation	OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility	ORPHA:488191
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Oocyte/Zygote/Embryo Maturation Arrest 21	Female infertility	OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Spermatogenic Failure 17	Male infertility	OMIM:617214
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Nanophthalmos 2	Microphthalmia	OMIM:609549
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle	OMIM:619011
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia	OMIM:265430
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Oocyte/Zygote/Embryo Maturation Arrest 17	Amenorrhea, Female infertility	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Amenorrhea, Female infertility	OMIM:620383
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Absent sperm...	OMIM:618751
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 5	Macrozoospermia, Male infertility, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:619095
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Irregularl...	OMIM:617576
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella	OMIM:620196
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced sperm motility, Reduced pr...	OMIM:301099
Spermatogenic Failure 10	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:614822
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 11	Male infertility, Reduced sperm motility, Oligozoospermia, Abnormal sperm morphology	OMIM:615081
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Spermatogenic Failure 78	Tapered sperm head, Male infertility, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Low-set ears, Double outlet right ventric...	OMIM:231060
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, A...	OMIM:618664
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced progressi...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Abnormality of the menstrual cycle	OMIM:619009
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:301059
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 64	Abnormal sperm head morphology, Oligozoospermia, Male infertility, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm mot...	OMIM:619515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Deafness, Autosomal Dominant 75	Sensorineural hearing impairment, Abnormal cochlea morphology	OMIM:618778
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Fetal Akinesia Deformation Sequence 1	Rocker bottom foot, Wrist flexion contracture, Premature birth, Nonimmune hydrops fetalis, Thorac...	OMIM:208150
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Coiled sperm flagell...	OMIM:618643
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Spermatogenic Failure 86	Abnormal sperm head morphology, Male infertility, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Deafness, Autosomal Dominant 87	Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II	OMIM:620281
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Premature Ovarian Failure 13	Oligomenorrhea, Amenorrhea, Hypoplasia of the uterus, Female infertility	OMIM:617442
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Low-set, posteriorly rotated ears, Spina bifida occulta, Meningo...	ORPHA:2311
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia	OMIM:615228
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Hyperprolactinemia	Oligomenorrhea, Menorrhagia, Female infertility	OMIM:615555
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum...	ORPHA:2345
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno...	ORPHA:1797
Endometriosis, Susceptibility To, 1	Dysmenorrhea, Decreased fertility, Endometriosis	OMIM:131200
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Deafness, Autosomal Dominant 44	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:607453
Deafness, Autosomal Dominant 86	Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti...	OMIM:620280
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
Limb Body Wall Complex	Congenital diaphragmatic hernia, Aplasia/hypoplasia involving bones of the upper limbs, Anencepha...	ORPHA:2369
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Abnormal metaphysis morphology, Platyspondyly, Proximal placement o...	ORPHA:93267
Spondylocostal Dysostosis 4, Autosomal Recessive	Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Hydrocephalus, Sh...	OMIM:613686
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Macular Degeneration, Age-Related, 13	Macular degeneration, Macular scar, Drusen, Choroidal neovascularization	OMIM:615439
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Becker Nevus Syndrome	Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K...	ORPHA:64755
Deafness-Infertility Syndrome	Abnormal sperm head morphology, Male infertility, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Cerebrofaciothoracic Dysplasia	Polyhydramnios, Low-set, posteriorly rotated ears, Narrow chest, Cerebellar vermis hypoplasia, Sc...	ORPHA:1394
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Ophthalmoplegia, External, And Myopia	Ptosis, Spina bifida	OMIM:311000
Femoral-Facial Syndrome	Abnormal fibula morphology, Inguinal hernia, Microtia, Scoliosis, Low-set ears, Abnormal pelvic g...	ORPHA:1988
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele, Rhombencephalosynapsis, Abnormal rib morp...	ORPHA:280195
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei...	OMIM:620058
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Spondylocostal Dysostosis 2, Autosomal Recessive	Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck	OMIM:608681
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Retinitis Pigmentosa 36	Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse...	OMIM:610599
Deafness, Autosomal Dominant 77	Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada...	ORPHA:98798
Velocardiofacial Syndrome	Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,...	OMIM:192430
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Distal Duplication 14Q	Abnormal lung lobation	ORPHA:1705
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Restrictive Dermopathy 1	Rocker bottom foot, Kyphoscoliosis, Overtubulated long bones, Premature birth, Decreased fetal mo...	OMIM:275210
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis	OMIM:601127
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp...	ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive	Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec...	OMIM:277300
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo...	ORPHA:66637
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male hypogona...	ORPHA:261529
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Congenitally corrected ...	OMIM:618300
Aicardi Syndrome	Optic atrophy, Butterfly vertebrae, Bifid ribs, Proximal placement of thumb, Lipoma, Cerebellar v...	OMIM:304050
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Kyphoscoliosis, Vertebral wedging, Abnormal sternum morphology...	OMIM:109400
Lethal Congenital Contracture Syndrome 9	Short umbilical cord, Axillary pterygium, Polyhydramnios, Thoracic kyphoscoliosis, Low-set ears, ...	OMIM:616503
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Premature Ovarian Failure 6	Premature ovarian insufficiency, Secondary amenorrhea, Female infertility, Primary amenorrhea, St...	OMIM:612310
Premature Ovarian Failure 22	Secondary amenorrhea, Premature ovarian insufficiency, Female infertility	OMIM:620548
Opticocochleodentate Degeneration	Hearing impairment, Optic atrophy, Cochlear degeneration	OMIM:258700
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti...	OMIM:618013
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold	OMIM:617572
Spinocerebellar Ataxia, Autosomal Recessive 3	Hearing impairment, Cochlear degeneration	OMIM:271250
Heterotaxy, Visceral, 4, Autosomal	Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia, Right aortic ar...	OMIM:613751
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect, Recurrent otitis media	OMIM:617616
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	ORPHA:3233
Ciliary Dyskinesia, Primary, 37	Hearing impairment, Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia	OMIM:245650
Fibrochondrogenesis 1	Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Short long bone, Dumbbell-sh...	OMIM:228520
Spondylocostal Dysostosis 5	Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs...	OMIM:122600
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
You-Hoover-Fong Syndrome	Hearing impairment, Coarctation of aorta, Vascular ring, Double aortic arch	OMIM:616954
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Compulsive behaviors, Hearing impairment, Abnormal cerebral white mat...	ORPHA:500166
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Decreased fetal movement, Intrauterine growth ret...	OMIM:256520
Lissencephaly 4	Colpocephaly, Agenesis of corpus callosum	OMIM:614019
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delay...	ORPHA:166024
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Recurrent otitis media, Dextrocardia	OMIM:618254
Exudative Vitreoretinopathy 3	Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Congenital Disorder Of Glycosylation, Type Iig	Kyphoscoliosis, Microtia, Short long bone, Glossoptosis, Cerebellar atrophy, Broad femoral neck, ...	OMIM:611209
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Sev...	OMIM:604213
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin...	ORPHA:3411
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,...	ORPHA:2990
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hydrocephalus, Microtia, ...	ORPHA:1834
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia	OMIM:614096
Restrictive Dermopathy	Thoracic kyphoscoliosis, Decreased skull ossification, Microcolon, Aplasia/Hypoplasia of the clav...	ORPHA:1662
Otopalatodigital Syndrome Type 2	Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Flared iliac wing, Fibular aplasia, Ta...	ORPHA:90652
Aicardi Syndrome	Optic atrophy, Butterfly vertebrae, Bifid ribs, Intestinal polyposis, Scoliosis, Missing ribs, Ap...	ORPHA:50
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs	ORPHA:3346
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Pectus excavatum, Decreased fetal movement, Joint hypermobility, Craniosynostosis, Overlapping to...	OMIM:213980
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Atrial septal defect, Vascular ring, Ventricular septal defect	OMIM:603387
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Deafness, Autosomal Dominant 9	Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo...	OMIM:601369
Boomerang Dysplasia	Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca...	ORPHA:1263
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial septal defect, Ventricular sept...	OMIM:601927
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac...	OMIM:265000
Aarskog-Scott Syndrome	Congestive heart failure, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Ingu...	ORPHA:915
Bowen-Conradi Syndrome	Abnormal lung lobation	ORPHA:1270
Sprengel Deformity	Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R...	OMIM:184400
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal aortic arch morphology, Aplasia/Hypoplasia of the inner ear, Abno...	ORPHA:2306
Microphthalmia, Syndromic 12	Pulmonary hypoplasia	OMIM:615524
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Mesomelia-Synostoses Syndrome	Short umbilical cord, Carpometacarpal synostosis, Polyhydramnios, Short metatarsal, Abnormal vert...	OMIM:600383
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Vacterl/Vater Association	Congenital diaphragmatic hernia, Occipital encephalocele, Single umbilical artery, Polyhydramnios...	ORPHA:887
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Gorlin Syndrome	Bifid ribs, Abnormal vertebral morphology, Vertebral wedging, Hydrocephalus, Scoliosis, Hemiverte...	ORPHA:377
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia	OMIM:619003
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Accelerated skeletal maturation, Syndactyly, Umbilical hernia, Craniosynostosis, Ing...	OMIM:175700
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Short distal phalanx of finger, Joint hypermo...	ORPHA:2484
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Poland Syndrome	Short ribs, Hemivertebrae, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, Rib fusion, Uni...	OMIM:173800
Metatropic Dysplasia	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears...	ORPHA:2635
Isolated Dandy-Walker Malformation	Encephalocele, Prominent occiput, Frontal bossing, Cleft palate, Platybasia	ORPHA:217
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus	ORPHA:228190
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephaly, Ataxia, Mot...	OMIM:618709
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Secondary microcephaly, Dysplastic corpus callosum, Inability to walk, Reduced cerebral white mat...	OMIM:620317
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Encephalocele	OMIM:200130
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration	OMIM:618287
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Aplasia/Hypoplasia of the lungs	ORPHA:1548
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Lateral Meningocele Syndrome	Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Umbilical hernia, Joint hypermobility, Ke...	OMIM:130720
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Triploidy	Polyhydramnios, Low-set, posteriorly rotated ears, Narrow chest, Meningocele, Finger syndactyly, ...	ORPHA:3376
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle,...	OMIM:617912
Spondylometaphyseal Dysplasia, Type A4	Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg...	OMIM:609052
Metatropic Dysplasia	Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cu...	OMIM:156530
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Low-set ears, ...	OMIM:617478
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Aqueductal stenosis, Tibial bowing, Bowing of the long bones, Abnorma...	ORPHA:3035
Phaver Syndrome	Hypoplastic aortic arch, Aplasia/Hypoplasia of the earlobes, Pulmonary artery atresia, Low-set ea...	ORPHA:2876
Bardet-Biedl Syndrome 6	External genital hypoplasia, Hypospadias, Vaginal atresia	OMIM:605231
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Short-Rib Thoracic Dysplasia 12	Anencephaly, Abnormal pinna morphology, Short ribs, Short long bone, Intestinal malrotation, Intr...	OMIM:269860
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Kbg Syndrome	Finger clinodactyly, Scoliosis, Bilateral conductive hearing impairment, Thoracic kyphosis, Persi...	ORPHA:2332
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microlissencephaly, Optic nerve hypoplasia, Small cerebral cor...	OMIM:617914
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Abnormal ventriculoarterial connection, Abnormal aortic arch morpholog...	ORPHA:860
Carpenter Syndrome 1	Sensorineural hearing impairment, Abnormal pinna morphology, Flared iliac wing, Pulmonic stenosis...	OMIM:201000
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Hydrocephalus, 2-3 toe syndactyly, Hemivertebrae, Low-set ears, ...	OMIM:264480
Congenital Tracheomalacia	Partial anomalous pulmonary venous return, Right aortic arch, Ventricular septal defect, Double a...	ORPHA:95430
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Fibrochondrogenesis	Abnormal metaphysis morphology, Hearing abnormality, Abnormal diaphysis morphology, Bell-shaped t...	ORPHA:2021
Multiple Pterygium Syndrome, X-Linked	Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Thin ribs, Low-set ears, Clef...	OMIM:312150
Exostoses, Multiple, Type Ii	Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular ex...	OMIM:133701
Exostoses, Multiple, Type I	Cervical myelopathy, Genu valgum, Protuberances at ends of long bones, Rib exostoses, Scapular ex...	OMIM:133700
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia, Primary amenorrhea	OMIM:191830
Isolated Hemihyperplasia	Scoliosis, Myelomeningocele, Asymmetry of the thorax	ORPHA:2128
Trisomy 1Q	Congenital diaphragmatic hernia, Hydrops fetalis, Polyhydramnios, Cerebellar hypoplasia, Short th...	ORPHA:261344
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Mucopolysaccharidosis, Type Iva	Cervical myelopathy, Pectus carinatum, Hyperlordosis, Kyphosis, Constricted iliac wing, Large elb...	OMIM:253000
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:600348
Sorsby Pseudoinflammatory Fundus Dystrophy	Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio...	ORPHA:59181
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia	OMIM:253310
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Pseudocoarctation of the aorta, Patent ductus arteriosus	OMIM:604381
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi...	OMIM:300845
Huntington Disease-Like 1	Bradykinesia, Jerky head movements, Abnormal shoulder morphology, Abnormal basal ganglia morpholo...	ORPHA:157941
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Hydrocephalus, Microtia, Aplasia/Hypoplasia involving the pelvis, Septo-optic dysp...	ORPHA:3301
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Abnormal heart morphology, Discordant atrioventricular connection,...	ORPHA:216694
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Retinal dystrophy, Remnants of the hyaloid vascular system, Chorioretinal c...	ORPHA:231736
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon...	ORPHA:2790
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Short ribs, Short long bone, Flat acetabular roof, Hypoplastic pelv...	OMIM:616300
Acalvaria	Abnormal lung lobation, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Scoliosis, Bilateral cleft palate, Low-set ears, Omphalocele, Foot oligod...	OMIM:601357
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Autosomal Dominant Spastic Ataxia Type 1	Spastic gait, Jerky head movements, Limb ataxia, Difficulty walking, Impaired proprioception, Imp...	ORPHA:251282
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua...	OMIM:180210
Spermatogenic Failure 38	Abnormal sperm head morphology, Male infertility, Tapered sperm head, Oligozoospermia, Coiled spe...	OMIM:618433
Multiple Pterygium Syndrome, Lethal Type	Short finger, Polyhydramnios, Multiple pterygia, Joint dislocation, Thin ribs, Low-set ears, Clef...	OMIM:253290
Pseudodiastrophic Dysplasia	Scoliosis, Omphalocele, Platyspondyly, Phalangeal dislocation, Elbow dislocation	ORPHA:85174
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia	OMIM:616733
Gombo Syndrome	Microphthalmia	OMIM:233270
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Craniofacial Microsomia 2	Microtia, Microtia, third degree, Dermal sinus tract, Microtia, second degree, Submucous cleft pa...	OMIM:620444
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Kagami-Ogata Syndrome	Kyphoscoliosis, Long clavicles, Polyhydramnios, Bell-shaped thorax, Inguinal hernia, Thin ribs, M...	OMIM:608149
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Chiari Malformation Type Ii	Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Ataxia, Dyspha...	OMIM:207950
Apert Syndrome	Optic atrophy, Narrow palate, Esophageal atresia, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn...	OMIM:178110
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal vertebral morphology, Chiari type I malformation, Senso...	ORPHA:261197
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Chorea, Athetosis, Abnormal head movements, Ataxia, Self-injurious behavior, Aggre...	ORPHA:382
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Polyhydramnios, Clinodactyly of the 5th finger, Tapered toe, Sacral d...	ORPHA:544488
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs	ORPHA:2204
Neural Tube Defects, Susceptibility To	Sacral dimple, Anencephaly, Spina bifida occulta, Hydrocephalus, Asymmetry of spinal facet joints...	OMIM:182940
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Microtia, Pectus excavatum, Intestinal malrotation, Arachnodactyly, B...	OMIM:300373
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Al-Gazali-Bakalinova Syndrome	Polydactyly, Molar tooth sign on MRI, Genu valgum, Inguinal hernia, Pectus carinatum, Low-set ear...	OMIM:607131
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Short thorax, Short long bone, Vertebral segmentation defect, Death in infancy, Ve...	OMIM:618845
Pontine Tegmental Cap Dysplasia	Sensorineural hearing impairment, Scoliosis, Hemivertebrae, Facial palsy, Rib fusion, Pontine teg...	OMIM:614688
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Radial deviation of finger, Dislocated radial head, Microtia, Pectus excavatu...	OMIM:268310
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Pulmonary hypoplasia	OMIM:241800
Mucopolysaccharidosis, Type Ivb	Cervical myelopathy, Hyperlordosis, Kyphosis, Aortic valve stenosis, Joint stiffness, Constricted...	OMIM:253010
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Low-set ears, Aortic valve stenosis, Pulmonic stenosis, Tetralogy of Fallot, Doubl...	OMIM:220210
Distal Duplication 15Q	High palate, Pectus excavatum, Anal atresia, Omphalocele, Joint stiffness, Camptodactyly of finge...	ORPHA:1707
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Diastrophic Dysplasia	Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy...	ORPHA:628
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Pectus carin...	ORPHA:93315
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Premat...	OMIM:134780
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Pulmonary hypoplasia	OMIM:617468
Nevus Comedonicus Syndrome	Preaxial polydactyly, Abnormal vertebral morphology, Spina bifida occulta, Finger syndactyly, Sco...	ORPHA:64754
Kniest Dysplasia	Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Dumbbell-shaped...	ORPHA:485
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi...	ORPHA:79506
Ehlers-Danlos Syndrome, Classic-Like, 2	Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Umbilical hernia, Joint hypermobility, Ce...	OMIM:618000
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Ring Chromosome 21 Syndrome	Scoliosis, Holoprosencephaly, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Clino...	ORPHA:1445
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Short ribs, Hypoplastic pelvis, Split foot, Umbilical hernia, Ab...	ORPHA:2092
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Dysgenesis of the cerebellar vermis, Short ribs, Abnormal optic disc mor...	ORPHA:397715
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Chiari type I malformation, Scoliosis, Low-set ears, Pectus excavatum, Omphalocele, Intestinal ma...	OMIM:618316
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Caudal Duplication	Intestinal duplication, Vertebral segmentation defect, Bifid sacrum, Myelomeningocele, Spina bifi...	ORPHA:1756
Klippel-Feil Syndrome 1, Autosomal Dominant	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Scol...	OMIM:118100
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Congenital Herpes Simplex Virus Infection	Intrauterine growth retardation, Hydranencephaly	ORPHA:293
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc...	ORPHA:957
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Sensorineural hearing impairment, Abnormal vestibular function, Tetralogy of Fallot, Ventricular ...	OMIM:617992
Vitamin K Antagonist Embryofetopathy	Short nose, Hydrocephalus, Anteverted nares, Microtia, Choanal atresia, Myelomeningocele, Hearing...	ORPHA:1914
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Cleft palate, Low-set, posteriorly rotated ears	ORPHA:2015
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Premature birth, Thoracic hypoplasia, T...	OMIM:108720
Meckel Syndrome 12	Rocker bottom foot, Low-set ears, Cerebral hypoplasia, Microcephaly, Agenesis of corpus callosum,...	OMIM:616258
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Spina bifida, Eyelid colob...	ORPHA:1104
Kagami-Ogata Syndrome	Kyphoscoliosis, Large placenta, Polyhydramnios, Bell-shaped thorax, Inguinal hernia, Microtia, Li...	ORPHA:254519
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatu...	ORPHA:1507
Marshall-Smith Syndrome	Kyphoscoliosis, Optic nerve hypoplasia, Prominent fingertip pads, Hypertension, Pectus excavatum,...	OMIM:602535
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Protruding ear, Recurrent otitis media, Pulmonic stenosis, Macrotia, Tetralogy of Fallot, Patent ...	ORPHA:3304
Lethal Congenital Contracture Syndrome 10	Narrow palate, Hydrops fetalis, Stiff neck, Narrow chest, Fetal akinesia sequence, Femoral bowing...	OMIM:617022
Developmental And Speech Delay Due To Sox5 Deficiency	Optic atrophy, Butterfly vertebrae, Narrow palate, Pectus carinatum, 2-3 toe syndactyly, Thoracic...	ORPHA:313892
Benign Paroxysmal Torticollis Of Infancy	Abnormal head movements, Ataxia, Vertigo	ORPHA:71518
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, Ab...	ORPHA:1354
Recombinant Chromosome 8 Syndrome	Low-set ears, Pulmonic stenosis, Hearing impairment, Tetralogy of Fallot, Posteriorly rotated ear...	OMIM:179613
Achondrogenesis Type 2	Pulmonary hypoplasia	ORPHA:93296
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Inability to walk, Hyperactivity, Cerebral white matter atrophy, Ataxia	ORPHA:599373
Hemihyperplasia, Isolated	Scoliosis, Myelomeningocele	OMIM:235000
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Sandal gap, Facial diplegia, Prominent fingertip pads, Pec...	ORPHA:96148
Linear Verrucous Nevus Syndrome	Retinopathy, Aplasia/Hypoplasia of the fovea, Hypophosphatemia, Iris coloboma	ORPHA:2611
Tetrasomy 15Q26	Hypoplastic aortic arch, Hydrocephalus, Low-set ears, Patent ductus arteriosus, Atrial septal def...	OMIM:614846
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Squared-off platyspondyly, Osteopenia, Lumbar hypolordosis, Platyspondyly, Int...	OMIM:271530
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Narrow greater sciatic notch, Narrow chest, Scoliosis, Coxa vara, Anterior rib cup...	OMIM:602271
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Abnormality of the vertebral column	OMIM:602475
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Bilateral lung agenesis	OMIM:601612
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Pectus carinatum, Sc...	OMIM:609223
Deafness, X-Linked 2	Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm...	OMIM:304400
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Low-set, posteriorly rotated ears,...	ORPHA:1488
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Schneckenbecken Dysplasia	Snail-like ilia, Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, No...	OMIM:269250
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Spastic gait, Optic atrophy, Dysplastic corpus callosum	OMIM:613162
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Joubert Syndrome 18	Kyphoscoliosis, Occipital encephalocele, Molar tooth sign on MRI, Bowing of the long bones, Campt...	OMIM:614815
Acrodysplasia Scoliosis	Brachydactyly, Scoliosis, Vertebral segmentation defect, Spina bifida occulta	ORPHA:2956
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Rocker bottom foot, Ulnar bowing, Hydrocephalus, Stenosis of the external auditory canal, Abnorma...	OMIM:207410
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Abnormal thumb morphology, Triphalangeal thumb, Proximal placeme...	ORPHA:1120
White Forelock With Malformations	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida occulta, Finger s...	ORPHA:2475
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hypogonadism, Vaginal atresia	OMIM:615989
Mosaic Trisomy 1	Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Abnormal pinna morphology, Ar...	ORPHA:1692
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Low-set ears, Int...	ORPHA:163966
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Cardiomegaly, Right aortic arch...	OMIM:620642
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic...	ORPHA:1457
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Large placenta, Polyhydramnios, Joint hypermobility, Inguinal hernia, Prominent sternum, Pectus e...	ORPHA:254528
Gillessen-Kaesbach-Nishimura Syndrome	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Polyhydramnios, Wide anterior font...	OMIM:263210
Trisomy 18	Congenital diaphragmatic hernia, Anencephaly, Abnormal hip bone morphology, Delayed skeletal matu...	ORPHA:3380
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Low-set ears, Hypoplas...	OMIM:617895
Birdshot Chorioretinopathy	Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst...	ORPHA:179
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic ilia...	ORPHA:96334
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f...	OMIM:156550
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Peroxisome Biogenesis Disorder 6A (Zellweger)	Colpocephaly	OMIM:614870
Thanatophoric Dysplasia, Type I	Breech presentation, Short greater sciatic notch, Wide-cupped costochondral junctions, Short ribs...	OMIM:187600
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Ambiguous genitalia, male, Hypoplasia of penis, Bifid scrotum, Urogenital sinus anomaly, Cryptorc...	ORPHA:753
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Wide anterior fontanel, Low-se...	OMIM:222448
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Anal atresia, Omphalocele, Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs, Preaxial han...	OMIM:601389
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility, Aplasia of the ovary	OMIM:614324
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Short ribs, Femoral bowing, Pectus excavatum, ...	OMIM:304120
Coarctation Of Aorta	Coarctation of aorta, Hypoplastic left heart	OMIM:120000
Verheij Syndrome	Joint hypermobility, Optic nerve hypoplasia, Scoliosis, Hemivertebrae, Branchial cyst, Short neck...	OMIM:615583
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Metaphyseal cupping, Hypoplastic iliac wing, Thin ribs, Hypoplasia of the calca...	OMIM:300863
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalanges...	OMIM:609616
Pallister-Hall Syndrome	Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Syndactyly, Intrauteri...	OMIM:146510
Meckel Syndrome, Type 10	Occipital encephalocele, Molar tooth sign on MRI, Sacral dimple, Anencephaly, Dandy-Walker malfor...	OMIM:614175
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly, Thick lower lip vermilion, Thick upper lip vermilion...	OMIM:309545
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos...	ORPHA:2522
Heterotaxy, Visceral, 1, X-Linked	Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior ven...	OMIM:306955
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Single umbilical artery, Inguinal hernia, Thin ribs, Short ribs, Scoliosis, Hemivertebrae, Missin...	OMIM:271520
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation	OMIM:300982
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Polyhydramnios, Encephalocele, Narrow chest, Short thorax, Hydroc...	ORPHA:93274
Wolf-Hirschhorn Syndrome	Chronic otitis media, Congenital diaphragmatic hernia, Hypoplastic pubic ramus, Abnormal form of ...	ORPHA:280
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Prolonged QT interval, Cardiomyopathy, Pectus excavatum, Death i...	ORPHA:373
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Sensorineu...	ORPHA:2326
Meacham Syndrome	Bicuspid aortic valve, Transposition of the great arteries, Partial anomalous pulmonary venous re...	OMIM:608978
Joubert Syndrome 36	Pectus carinatum, Sensorineural hearing impairment, Mesoaxial hand polydactyly, Molar tooth sign ...	OMIM:618763
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Transient isc...	ORPHA:1330
Autosomal Recessive Amelia	Aplasia/Hypoplasia of the lungs	ORPHA:1027
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of...	ORPHA:750
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Hypoplasia of the corpus callosum, Broad-based gait, Progressive microcephaly, Recurrent hand fla...	OMIM:617862
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif...	ORPHA:166011
Apert Syndrome	Chronic otitis media, Megalencephaly, Broad thumb, Syndactyly, Ventriculomegaly, Hydrocephalus, P...	OMIM:101200
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Holoprosencephaly, Aplasia/Hypoplasia of the lungs, Abnormal pleura morphology, Hydranencephaly	ORPHA:2570
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia	OMIM:613370
Masa Syndrome	Clinodactyly of the 5th finger, Gait disturbance, Camptodactyly of finger, Agenesis of corpus cal...	ORPHA:2466
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Abnormal dental enamel morpholo...	ORPHA:2180
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Delayed ...	OMIM:255800
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal...	ORPHA:2248
Waardenburg Syndrome Type 1	Aganglionic megacolon, Telecanthus, Meningocele, Spina bifida, Hearing impairment, Synophrys, Pto...	ORPHA:894
Nanophthalmos 4	Microphthalmia	OMIM:615972
Brachydactyly, Type B1	Joint contracture of the hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplasti...	OMIM:113000
Retinitis Pigmentosa 50	Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt...	OMIM:613194
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Polyhydramnios, Diastasis recti, Omphalocele, Coat hanger sign of ribs, Thoracic ...	ORPHA:254534
Baller-Gerold Syndrome	Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Optic nerve hypoplasia, Ol...	OMIM:218600
Double Outlet Right Ventricle	Abnormality of cartilage of external ear, Truncus arteriosus, Pulmonary artery atresia, Pulmonic ...	ORPHA:3426
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Microcephaly, Ataxia, Inability to walk, Dysplastic corpus callosum	OMIM:618276
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Partial anomalous pulmonary venous return, Dextrocardia, Ventricular septal...	OMIM:619657
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Spinal dysraphism, Cervical spina bifida	ORPHA:63260
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic aneurysm, Patent foramen ovale...	ORPHA:477817
Chorea, Childhood-Onset, With Psychomotor Retardation	Abnormal head movements	OMIM:616939
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Abnormal aortic arch morphology, Low-set, posteriorly rotated ears, M...	ORPHA:1110
Iniencephaly	Rocker bottom foot, Gastroschisis, Congenital diaphragmatic hernia, Polyhydramnios, Anencephaly, ...	ORPHA:63259
Thanatophoric Dysplasia	Abnormal metaphysis morphology, Polyhydramnios, Abnormal ilium morphology, Narrow chest, Short th...	ORPHA:2655
Thanatophoric Dysplasia, Type Ii	Decreased fetal movement, Polyhydramnios, Platyspondyly, Narrow chest, Short greater sciatic notc...	OMIM:187601
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Cervical myelopathy, Delayed pubic bone ossification, Limitation of knee ...	OMIM:183900
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo...	OMIM:601186
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,...	OMIM:184250
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Bilobed right lung	OMIM:612284
Nanophthalmos	Microphthalmia	ORPHA:35612
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Carpal osteolysis, Abnormal form of the vertebral bodies, Osteolysis involving bones ...	ORPHA:371428
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Narrow chest, Microtia, Ectopic anus, High palate, Abnormal ri...	ORPHA:1703
Retinitis Pigmentosa 70	Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro...	OMIM:615922
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:619553
Pendred Syndrome	Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation	OMIM:274600
Kbg Syndrome	Cervical ribs, Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Uln...	OMIM:148050
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Chromosome 1P36 Deletion Syndrome, Distal	Asymmetry of the ears, Sensorineural hearing impairment, Microtia, Delayed skeletal maturation, B...	OMIM:607872
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus	OMIM:600496
Hypertriglyceridemia 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia	OMIM:619324
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencepha...	OMIM:616546
Camptodactyly Syndrome, Guadalajara Type 1	Low-set, posteriorly rotated ears, Telecanthus, Highly arched eyebrow, Attached earlobe, Microtia...	ORPHA:1327
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Intellectual Developmental Disorder, Autosomal Dominant 72	Low-set ears, Spina bifida, Uplifted earlobe, Posteriorly rotated ears, Epicanthus	OMIM:620439
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Multiple prenatal fractures, Thoracic hypoplasia, Intra...	OMIM:616897
Retinitis Pigmentosa 32	Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti...	OMIM:609913
Primary Pulmonary Hypoplasia	Pneumothorax, Recurrent respiratory infections, Abnormal pulmonary artery morphology, Pulmonary h...	ORPHA:2257
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Pulmonary hypoplasia, Hydranencephaly	OMIM:236500
Charge Syndrome	Abnormal pinna morphology, Microtia, Tracheoesophageal fistula, Umbilical hernia, Bifid femur, In...	ORPHA:138
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ...	ORPHA:90650
Alg3-Cdg	Neural tube defect, Coarctation of the descending aortic arch, Abnormal pinna morphology, Cardiom...	ORPHA:79321
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Hearing impairment, Tetralogy of Fa...	ORPHA:1727
Spondylocarpotarsal Synostosis Syndrome	Mixed hearing impairment, Pectus carinatum, Sensorineural hearing impairment, Hyperlordosis, Shor...	OMIM:272460
Scimitar Syndrome	Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati...	ORPHA:185
Slc35A2-Cdg	Osteopenia, Hip subluxation, Abnormal long bone morphology, Craniosynostosis, Joint hypermobility...	ORPHA:356961
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Klippel-Feil Syndrome 2, Autosomal Recessive	Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Abno...	OMIM:214300
Spondylosis, Cervical	Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta	OMIM:184300
Diabetic Embryopathy	Transposition of the great arteries, Low-set, posteriorly rotated ears, Hydrocephalus, Microtia, ...	ORPHA:1926
Progressive Pseudorheumatoid Arthropathy Of Childhood	Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ...	ORPHA:1159
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Pectus excavatum, Short me...	OMIM:150250
Atelosteogenesis, Type Ii	Pulmonary hypoplasia	OMIM:256050
Agnathia-Otocephaly Complex	Pulmonary hypoplasia, Holoprosencephaly	OMIM:202650
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Sensorineural hearing impairment, Large iliac win...	OMIM:253220
Diprosopus	Abnormality of the nose, Abnormal pinna morphology, Cleft palate, Anencephaly	ORPHA:1681
Miller-Dieker Syndrome	Sacral dimple, Polyhydramnios, Clinodactyly of the 5th finger, Omphalocele	ORPHA:531
Chromosome 10Q26 Deletion Syndrome	Limited elbow extension, 2-3 toe cutaneous syndactyly, Radial deviation of finger, Clinodactyly o...	OMIM:609625
Achondrogenesis Type 1B	Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Abnormal rib morphology, Thickened n...	ORPHA:93298
Pyle Disease	Limited elbow extension, Genu valgum, Cubitus valgus, Reduced bone mineral density, Delayed erupt...	OMIM:265900
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short umbilical cord, Cerebellar atrophy, Nuchal cord, Short humerus, Lateral ventricle dilatatio...	OMIM:618367
1P36 Deletion Syndrome	Sensorineural hearing impairment, Microtia, Abnormal intestine morphology, Kyphosis, Joint stiffn...	ORPHA:1606
Mucopolysaccharidosis, Type Iiia	Dense calvaria, Inguinal hernia, Scoliosis, Asymmetric septal hypertrophy, Hearing impairment, Jo...	OMIM:252900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Hypoplastic iliac wing, Sinus tachycardia,...	OMIM:253200
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Deafness, Autosomal Dominant 80	Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con...	OMIM:619274
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar cyst, Scoliosis, Hyperlordosis, Facial palsy, Cerebellar atrophy, Kyphosis, Achilles t...	OMIM:606612
Deafness, X-Linked 5, With Peripheral Neuropathy	Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,...	OMIM:300614
Autosomal Dominant Brachyolmia	Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Short thorax, Platysp...	ORPHA:93304
Cog1-Cdg	Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Low-set, posteriorly rotated ears, Cerebellar ve...	ORPHA:263508
Craniodiaphyseal Dysplasia	Optic atrophy, Diaphyseal undertubulation, Craniofacial hyperostosis, Stenosis of the external au...	ORPHA:1513
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Primary Ciliary Dyskinesia	Chronic otitis media, Situs inversus totalis, Transposition of the great arteries, Recurrent otit...	ORPHA:244
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Abnormal tibia morphology, Anencephaly, Encephalocele, Hydroceph...	ORPHA:1335
Premature Ovarian Failure 3	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus	OMIM:608996
Microcephaly-Microcornea Syndrome, Seemanova Type	Brachycephaly, Narrow mouth, High palate, Short stature, Growth delay	ORPHA:2528
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Periventricular white matter hyperintensities, Optic atrophy, Broad-based gait, Hyperactivity, Hy...	OMIM:619470
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Inguinal hernia, Pectus carinatum, Delayed ossification of carpal b...	OMIM:618392
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput, Smooth philtrum, Long philtrum, Thin upper lip vermilion	ORPHA:46
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti...	OMIM:271650
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Pectus carinatum, Hyperextensibility of the finger joints, Kyphosis, Thoracolumbar ...	OMIM:313420
Microcephaly 5, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Heari...	OMIM:608716
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Hemiverteb...	ORPHA:2759
Gaucher Disease, Type Ii	Double aortic arch	OMIM:230900
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Holoprosencephaly	ORPHA:250999
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head...	OMIM:614856
Chylomicron Retention Disease	Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc...	OMIM:246700
Melnick-Needles Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Pectus excavat...	OMIM:309350
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:1046
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal fistula, Vaginal...	OMIM:236700
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the ...	ORPHA:2916
Glycogen Storage Disease Vi	Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia	OMIM:232700
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Microcephaly With Cervical Spine Fusion Anomalies	Spinal instability, Vertebral fusion	OMIM:251250
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Greenberg Dysplasia	Short ribs, Short long bone, Short metacarpal, Decreased skull ossification, Multiple prenatal fr...	OMIM:215140
Kyphomelic Dysplasia	Lateral clavicle hook, Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebr...	ORPHA:1801
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Wormian bone...	OMIM:300232
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Dislocated radial ...	ORPHA:2839
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Platyspondyly, Short met...	ORPHA:93351
Bardet-Biedl Syndrome 1	Radial deviation of finger, Aganglionic megacolon, Gait imbalance, Postaxial hand polydactyly, Ab...	OMIM:209900
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Anencephaly 2	Bifid nose, Anencephaly, Median cleft palate	OMIM:619452
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo...	OMIM:271630
Weiss-Kruszka Syndrome	Dysplastic corpus callosum, Clinodactyly of the 5th finger, Proximal placement of thumb, Low-set ...	ORPHA:502430
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Mixed hearing impairment, Short ribs, Sho...	OMIM:305600
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pulmonary hypoplasia, Bilate...	OMIM:611812
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Microtia, Short ribs, Short long bone, Flat acetabular roof, Hypertension, Hypoplastic ischia, Il...	OMIM:613320
Czeizel-Losonci Syndrome	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Spina bifida, Pulmonary hypoplasia	ORPHA:2437
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Metacarpophalangeal joint hyperextensibility, Macroorch...	OMIM:300624
Trigonocephaly 1	High, narrow palate, Lumbar hemivertebrae, Meckel diverticulum, Metopic synostosis, Omphalocele, ...	OMIM:190440
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Episodic Ataxia Type 4	Abnormal head movements, Ataxia, Vertigo	ORPHA:79136
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Pulmonary hypoplasia	OMIM:224410
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Pec...	ORPHA:3082
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Broad femoral neck, Knee pain, Hump-shaped mound of bone in central and posterior portions of ver...	ORPHA:99642
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Pulmonary hypoplasia	ORPHA:2847
Robinow Syndrome	Kyphoscoliosis, Fused thoracic vertebrae, Mixed hearing impairment, Scoliosis, Hemivertebrae, Low...	ORPHA:97360
Spondylometaphyseal Dysplasia, A4 Type	Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm, Platyspondyly	ORPHA:168555
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Sensorineural he...	OMIM:305620
Microphthalmia, Syndromic 3	Butterfly vertebrae, Esophageal atresia, Sensorineural hearing impairment, Optic nerve hypoplasia...	OMIM:206900
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Wide anterior fontanel, Omphal...	ORPHA:2143
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Protruding ear, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary art...	ORPHA:1166
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Chorea, Microcephaly, Inappropriate laughter, Ataxia, Motor stereotypy, Ventriculomegaly, ...	OMIM:619150
Gómez-López-Hernández Syndrome	Brachycephaly, Thin vermilion border, Turricephaly, Hydrocephalus, Short stature	ORPHA:1532
Wildervanck Syndrome	Fused cervical vertebrae, Meningocele, Facial palsy, Congenital sensorineural hearing impairment,...	ORPHA:3456
Cleidocranial Dysplasia	Chronic otitis media, Glossoptosis, Decreased skull ossification, Abnormal epiphysis morphology, ...	ORPHA:1452
Achondroplasia	Narrow greater sciatic notch, Short ribs, Femoral bowing, Trident hand, Death in infancy, Thoraci...	OMIM:100800
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Aorto-Ventricular Tunnel	Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m...	ORPHA:3400
Lethal Osteosclerotic Bone Dysplasia	Short nose, Anteverted nares, Low-set ears, Median cleft palate, Depressed nasal ridge, Posterior...	ORPHA:1832
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Acromesomelic Dysplasia 4	Sandal gap, Short metacarpal, Accelerated skeletal maturation, Metaphyseal irregularity, Umbilica...	OMIM:619636
Intellectual Developmental Disorder, Autosomal Recessive 73	Low-set ears, Ventricular septal defect, Posteriorly rotated ears, Patent ductus arteriosus	OMIM:619717
C Syndrome	Radial deviation of finger, Dislocated radial head, Scoliosis, Low-set ears, Short metacarpal, Po...	OMIM:211750
Frontometaphyseal Dysplasia	Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ...	ORPHA:1826
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Scoliosis, Recurrent fractures, Pectus excavatum, Kyphosis, Decr...	OMIM:259440
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Delayed skeletal maturation, Congenital sensorineural hearing im...	OMIM:157800
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru...	OMIM:600059
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Aganglionic megacolon, Abnormal vertebral morphology, Low-set, posterior...	ORPHA:220493
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Short long bone, Hyperlordosis, Accelerated skeletal maturation, Flattened epiphy...	OMIM:618363
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Missing ribs, Meningocele	ORPHA:1759
Zttk Syndrome	Breech presentation, Kyphosis, Bifid uvula, Cervical ribs, Joint hypermobility, Intrauterine grow...	OMIM:617140
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism	OMIM:620103
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
17Q21.31 Microduplication Syndrome	Anteverted nares, Short nose, High palate	ORPHA:217340
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Parietal Foramina 1	Cleft upper lip, Parietal foramina, Cleft palate, Encephalocele	OMIM:168500
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,...	OMIM:151210
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate...	ORPHA:163665
Achondrogenesis	Aplasia/Hypoplasia of the lungs, Umbilical hernia	ORPHA:932
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, Arthralgia of the hip, Cox...	OMIM:609324
3Mc Syndrome 1	Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Sacral dimple, Spi...	OMIM:257920
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs, Hypoplasia of the pons, Joint hypermobility, Cerebellar hypo...	OMIM:615220
Thoracoabdominal Syndrome	Hydrocephalus, Pulmonary hypoplasia, Anencephaly	OMIM:313850
Yuan-Harel-Lupski Syndrome	Decreased nerve conduction velocity, Aortic root aneurysm, Hearing impairment, Bicuspid aortic va...	OMIM:616652
Meckel Syndrome, Type 8	Occipital encephalocele, Short nose, Encephalocele, Low-set ears, Depressed nasal ridge, Cleft pa...	OMIM:613885
Chromosome Xq21 Deletion Syndrome	Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ...	OMIM:303110
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation	OMIM:618266
Achondrogenesis Type 1A	Hydrops fetalis, Polyhydramnios, Narrow chest, Short thorax, Recurrent fractures, Abnormal enchon...	ORPHA:93299
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec...	OMIM:620662
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hearing impairment, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
ERI1-related disease	Dislocated radial head, Pectus carinatum, Oligodactyly, Pectus excavatum, Delayed skeletal matura...	OMIM:608739
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	OMIM:194190
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Death in infancy, Omphalocele, Bifid uvula, Cleft palate	OMIM:258320
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Pectus carinatum, Hyperlordosis, Kyphosis, Delayed skeletal maturat...	ORPHA:582
Usher Syndrome Type 3	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231183
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Greenberg Dysplasia	Abnormal bone ossification, Narrow chest, Abnormal form of the vertebral bodies, Abnormal pelvis ...	ORPHA:1426
Bronchopulmonary Dysplasia	Abnormal lung morphology, Pulmonary sequestration, Emphysema, Atelectasis	ORPHA:70589
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Recurrent otitis media, Patent foram...	OMIM:620570
Glycogen Storage Disease 0, Liver	Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:240600
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing...	OMIM:608728
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch, Meningocele	OMIM:620511
Masa Syndrome	Hydrocephalus, Shuffling gait, Microcephaly, Agenesis of corpus callosum, Adducted thumb, Ventric...	OMIM:303350
Aplasia Cutis Congenita	Spinal dysraphism, Facial palsy	ORPHA:1114
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Recurrent sinopulmonary infections, Abnormal respiratory motile cilium morphology	OMIM:215520
Deafness-Hypogonadism Syndrome	Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma...	ORPHA:90646
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 3	Usual interstitial pneumonia, Pulmonary fibrosis	OMIM:616373
Adams-Oliver Syndrome 4	Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:615297
Congenital Vertical Talus	Rocker bottom foot, Equinus calcaneus, Myelomeningocele	ORPHA:178382
Achondrogenesis, Type Ib	Absent or minimally ossified vertebral bodies, Stillbirth, Polyhydramnios, Breech presentation, H...	OMIM:600972
Duplication Of The Pituitary Gland	Abnormal odontoid process morphology, Polyhydramnios, Encephalocele, Abnormality of joint mobilit...	ORPHA:314621
Brachyolmia, Maroteaux Type	Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly	ORPHA:93302
Absence Of The Pulmonary Artery	Right aortic arch, Truncus arteriosus, Abnormal inferior vena cava morphology, Patent foramen ova...	ORPHA:980
Developmental And Epileptic Encephalopathy 89	Death in childhood, Narrow chest, Scoliosis, Low-set ears, Cerebellar atrophy, Omphalocele, Cleft...	OMIM:619124
Craniodigital-Intellectual Disability Syndrome	Short nose, Spina bifida occulta, Narrow nasal bridge	ORPHA:1514
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart	OMIM:241550
Phenobarbital Embryopathy	Low-set ears, Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Retinal Dystrophy And Obesity	Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa...	OMIM:616188
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta, Facial palsy	OMIM:107550
Fetal Minoxidil Syndrome	Ventricular septal defect, Low-set, posteriorly rotated ears, Umbilical hernia	ORPHA:1918
Rhiny	Short nose, Anteverted nares	OMIM:180360
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Craniodiaphyseal Dysplasia, Autosomal Dominant	Optic atrophy, Craniofacial hyperostosis, Diaphyseal sclerosis, Facial diplegia, Cortical scleros...	OMIM:122860
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Vertebral segm...	ORPHA:3186
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ...	OMIM:603546
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Beaking of vertebral bodies, Internal tibial torsion, Stiff neck, Vertebral wedgi...	OMIM:616583
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac...	ORPHA:2319
Oeis Complex	Cloacal exstrophy, 11 pairs of ribs, Rectovaginal fistula, Hydrocephalus, Hemivertebrae, Myelomen...	OMIM:258040
Shprintzen-Goldberg Craniosynostosis Syndrome	Dislocated radial head, Pectus carinatum, Abnormal pinna morphology, Pectus excavatum, Arachnodac...	OMIM:182212
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele,...	ORPHA:220497
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Low-set ears, Postaxial hand polydactyly, Abnormality of the ...	ORPHA:1655
Fryns Microphthalmia Syndrome	Bilateral cleft palate, Neural tube defect, Macrotia	OMIM:600776
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Single umbilical artery, Low-set, posteriorly rotated ears, Abnormal rib morphology, Aplasia/Hypo...	ORPHA:2772
Meacham Syndrome	Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho...	ORPHA:3097
Bruck Syndrome 1	Ankle flexion contracture, Hearing abnormality, Pterygium, Vertebral wedging, Pectus carinatum, S...	OMIM:259450
Codas Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Delayed ossification of carpal bon...	OMIM:600373
Holoprosencephaly	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Abnormal pinna morphology...	ORPHA:2162
Intellectual Developmental Disorder, X-Linked 30	Short nose, Hydrocephalus, Anteverted nares, High palate, Macrotia, Prominent nasal bridge	OMIM:300558
Joubert Syndrome 7	Molar tooth sign on MRI, Genu valgum, Encephalocele, Scoliosis, Brainstem dysplasia, Postaxial ha...	OMIM:611560
Thrombocytopenia-Absent Radius Syndrome	Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ...	ORPHA:3320
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the corpus callosum, Abnormal temper tantrums, Cavum septum pellucidum, Polymicrogy...	ORPHA:300573
Koolen-De Vries Syndrome	Narrow palate, High, narrow palate, Abnormal dental enamel morphology, Scoliosis, Vertebral segme...	ORPHA:96169
Aortic Valve Disease 1	Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Mitral stenosis, Tetral...	OMIM:109730
Huntington Disease-Like 3	Broad-based gait, Chorea, Cerebral cortical atrophy, Progressive gait ataxia, Abnormal head movem...	ORPHA:157946
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du...	ORPHA:1836
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Inguinal hernia, Low-set ears, Osteoporosis, Supernumerary ribs, Finger clinodactyly, Patellar su...	ORPHA:2958
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Hearing impairment, Short neck, Vertebral segmentation defect, Abnormal rib morphology	ORPHA:2578
Chromosome 9P Deletion Syndrome	Narrow palate, Clinodactyly of the 5th toe, High, narrow palate, Sandal gap, Inguinal hernia, Sco...	OMIM:158170
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Ogden Syndrome	Cerebral atrophy, Low-set ears, Shuffling gait, Macrotia, Broad hallux, Abnormal head movements, ...	ORPHA:276432
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Bilateral cleft palate, Depressed nasal ridge, Absent nasal septal cartilage, Severe...	ORPHA:2003
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone...	ORPHA:239
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Hypertension, Abnorm...	ORPHA:3027
7Q31 Microdeletion Syndrome	Childhood onset sensorineural hearing impairment, Clinodactyly of the 2nd finger, Scoliosis, Prom...	ORPHA:251061
Fetal Akinesia Deformation Sequence	Pulmonary hypoplasia	ORPHA:994
Aminopterin Syndrome Sine Aminopterin	Inguinal hernia, Low-set ears, Intrauterine growth retardation, High palate, Arachnodactyly, Rudi...	OMIM:600325
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl...	OMIM:617719
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Bell-shaped t...	OMIM:166210
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate	OMIM:300577
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Dysosteosclerosis	Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon...	OMIM:224300
15Q11.2 Microdeletion Syndrome	Abnormal pinna morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorma...	ORPHA:261183
Distal Triplication 15Q	Hypoplastic aortic arch, Hydrocephalus, Sensorineural hearing impairment, Microtia, Abnormal heli...	ORPHA:314588
Fetal Encasement Syndrome	Bilateral trilobed lung	OMIM:613630
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Clinodactyly of the 5th finger, Inability to walk, 2-3 toe syndactyly, Low-set ears, Abnormal per...	OMIM:613443
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aganglionic megacolon, Polymicrogy...	ORPHA:171680
Meckel Syndrome, Type 2	Polydactyly, Anencephaly, Encephalocele, Meningocele, Dandy-Walker malformation, Postaxial hand p...	OMIM:603194
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, In...	OMIM:618454
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Arnold-Chiari Malformation Type I	Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Stiff neck,...	ORPHA:268882
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Br...	OMIM:617405
Cornelia De Lange Syndrome 6	Clinodactyly of the 5th finger, Inguinal hernia, Pectus carinatum, Scoliosis, Low-set ears, Macro...	OMIM:620568
Meckel Syndrome, Type 1	Occipital encephalocele, Radial deviation of finger, Breech presentation, Anencephaly, Intestinal...	OMIM:249000
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Pectus excavatum, Kyphosis, Pulmonic stenosis, Intra...	OMIM:610443
Atrial Septal Defect 4	Atrial septal defect, Coarctation of aorta, Patent foramen ovale	OMIM:611363
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,...	OMIM:194072
Fryns Syndrome	Rocker bottom foot, Proximal placement of thumb, Meckel diverticulum, Prominent fingertip pads, I...	OMIM:229850
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Recurrent sinusitis, Absent central microtubular pair morphology of respiratory motile cilia, Rec...	OMIM:620032
Fibrochondrogenesis 2	Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone, Short ribs, Cup...	OMIM:614524
Orofaciodigital Syndrome Vi	Radial deviation of finger, Tibial bowing, Tongue nodules, Clinodactyly, Fibular aplasia, Cerebel...	OMIM:277170
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Leukoencephalopathy, Progressive, With Ovarian Failure	Periventricular leukomalacia, Premature ovarian insufficiency, Progressive leukoencephalopathy, A...	OMIM:615889
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Congenital hip dislocation, Delayed skeletal maturation, ...	OMIM:614450
Maternal Phenylketonuria	Hypoplastic helices, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double...	ORPHA:2209
Fryns Syndrome	Congenital diaphragmatic hernia, Aganglionic megacolon, Clinodactyly of the 5th finger, Low-set, ...	ORPHA:2059
Constricting Bands, Congenital	Gastroschisis, Encephalocele, Scoliosis, Omphalocele, Hand polydactyly, Cleft palate, Syndactyly,...	OMIM:217100
Trisomy 13	Optic atrophy, High, narrow palate, Hydrops fetalis, Narrow chest, Abnormal antihelix morphology,...	ORPHA:3378
Thoracolaryngopelvic Dysplasia	Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti...	OMIM:187760
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar...	OMIM:613759
Hadziselimovic Syndrome	Ventricular hypertrophy, Pulmonary artery atresia, Low-set ears, Tetralogy of Fallot, Posteriorly...	OMIM:612946
Joubert Syndrome 14	Optic atrophy, Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker m...	OMIM:614424
Tetraploidy	Aplasia/Hypoplasia of the lungs	ORPHA:3305
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Aganglionic megacolon, Low-set, posteriorly rotated ears, Encephalocele,...	ORPHA:2318
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Inguinal hernia, Short thorax, Scoliosis, High palate, Pectus exc...	OMIM:619451
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
3M Syndrome	Rocker bottom foot, Enlarged thorax, Hyperlordosis, Kyphosis, Hypoplastic ischia, Hypoplastic pel...	ORPHA:2616
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dis...	OMIM:245600
Amish Lethal Microcephaly	Optic atrophy, Spina bifida, Microcephaly, Agenesis of corpus callosum, Lissencephaly, Ventriculo...	ORPHA:99742
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d...	OMIM:618736
Igg4-Related Aortitis	Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aort...	ORPHA:449400
Keratoconus Posticus Circumscriptus	Clinodactyly of the 5th finger, Limited elbow extension and supination, Cleft palate, Brachydacty...	OMIM:244600
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, De...	OMIM:617974
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Polyhydramnios, Breech presentation, Narrow chest, Flared metaphysis...	ORPHA:2347
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Low-set, posteriorly rotated ears, Anencephaly, Encephalocele, Meningocel...	ORPHA:1908
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Death in childhood, Lumbar platyspondyly, Narrow chest, Increased in...	OMIM:618961
Hypothyroidism, Congenital, Nongoitrous, 4	Wide anterior fontanel, Omphalocele, Macroglossia, Umbilical hernia	OMIM:275100
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Clinodactyly of the 5th finger, Inguinal hernia, Microtia, High palate, Pectus exc...	OMIM:227330
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl...	ORPHA:2619
Fountain Syndrome	Spina bifida occulta, Sensorineural hearing impairment, Synophrys, Spina bifida, Ptosis, Thick ey...	ORPHA:3219
Cole-Carpenter Syndrome 2	Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Hydrocephalus, Narrow iliac wing, Thin ri...	OMIM:616294
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Usher Syndrome Type 1	Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology	ORPHA:231169
Familial Spontaneous Pneumothorax	Pneumothorax, Abnormal pleura morphology	ORPHA:2903
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia	ORPHA:171430
Non-Distal Duplication 10Q	Short nose, Low-set, posteriorly rotated ears, High palate, Convex nasal ridge, Depressed nasal b...	ORPHA:1695
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Cantu Syndrome	Platyspondyly, Narrow chest, Short hallux, Cuboid-shaped vertebral bodies, Osteoporosis, Delayed ...	OMIM:239850
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydrocephalus, Pulmonary hypoplasia	OMIM:314390
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Osteopetrosis, Sclerotic vertebral body, Bell-shaped thorax, Chiari type I malform...	OMIM:618476
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Abnormality of the internal au...	ORPHA:73
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1355
Pallister-Hall Syndrome	Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, Intrau...	ORPHA:672
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Maxillonasal Dysplasia, Binder Type	Large earlobe, Short nose, Depressed nasal bridge, Short columella	OMIM:155050
Lateral Meningocele Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Hyperlordosis, Pectus ex...	ORPHA:2789
Ciliary Dyskinesia, Primary, 28	Dynein arm defect of respiratory motile cilia, Recurrent sinusitis, Bronchiectasis, Recurrent res...	OMIM:615505
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture...	ORPHA:93320
Osteogenesis Imperfecta	Intestinal obstruction, Mixed hearing impairment, Abnormal femur morphology, Reduced bone mineral...	ORPHA:666
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Recurrent otitis media, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cu...	ORPHA:370010
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Joint ...	OMIM:618395
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Round ear	ORPHA:1450
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis, Short long bone, Upper-limb ...	OMIM:618728
Jeune Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:474
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Butterfly vertebrae, Fused cervical vertebrae, Esophageal atresia, Spina bifida occulta, Low-set ...	OMIM:619227
Lowry-Maclean Syndrome	Intrauterine growth retardation, Craniosynostosis, Cleft palate, Delayed eruption of teeth	OMIM:600252
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane...	ORPHA:229
Noonan Syndrome	Osteopenia, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Pectus carinatum, ...	ORPHA:648
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Aortic Aneurysm, Familial Thoracic 4	Bicuspid aortic valve, Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm,...	OMIM:132900
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Holzgreve Syndrome	Single umbilical artery, Low-set, posteriorly rotated ears, Abnormal metacarpal morphology, Abnor...	ORPHA:2167
Primary Dystonia, Dyt13 Type	Jerky head movements, Motor stereotypy	ORPHA:98807
Cantú Syndrome	Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Short hallux, Finger syndactyly, Cub...	ORPHA:1517
Cole-Carpenter Syndrome	Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Delay...	ORPHA:2050
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Pectus carin...	OMIM:620663
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Sensorineural hearing impairment, Enlarged epiphyses, Epiphyseal dysplasia, Cleft palate, Platysp...	OMIM:184840
Fraser Syndrome	Abnormal pinna morphology, Microtia, Myelomeningocele, Death in infancy, Umbilical hernia, Low-se...	ORPHA:2052
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Pectus excavatum, Abnormal optic disc morphology, Broad thumb, Short 5th ...	ORPHA:508498
Pagod Syndrome	Abnormal clavicle morphology, Optic atrophy, Congenital diaphragmatic hernia, Encephalocele, Meni...	ORPHA:991
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Abnormal brainstem morphology, Meckel diverticulum, Dandy-Walker malformation, Low...	ORPHA:163961
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Arteria lusoria, Hypoplasia of right ventricle, Left aortic arch with ce...	OMIM:212093
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Sialidosis Type 2	Hydrops fetalis, Inguinal hernia, Short thorax, Pectus carinatum, Kyphosis, Osteoporosis, Hearing...	ORPHA:87876
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears, Postaxial hand polydactyly, ...	OMIM:617127
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Microtia, Short long bone, Hypertension, Aort...	OMIM:139210
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Kyphoscoliosis, Flexion contracture of toe, Breech presentation, Cerebellar a...	OMIM:193700
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Desbuquois Dysplasia 1	Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala...	OMIM:251450
Dysspondyloenchondromatosis	Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo...	ORPHA:85198
Renal Agenesis, Bilateral	Pulmonary hypoplasia, Sirenomelia	ORPHA:1848
Intellectual Developmental Disorder, X-Linked 112	Bicuspid aortic valve, Right aortic arch, Abnormal heart morphology, Cupped ear	OMIM:301111
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Otospondylomegaepiphyseal Dysplasia	Sandal gap, Sensorineural hearing impairment, Tibial bowing, Glossoptosis, Short metacarpal, Abno...	ORPHA:1427
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet...	ORPHA:94068
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Platyspondyly, Fractures of the long bones, Wide humerus, Osteoporosis, Epiphyseal dy...	ORPHA:319195
Hurler Syndrome	Abnormal nerve conduction velocity, Hypertension, Cardiomyopathy, Death in infancy, Abnormal epip...	ORPHA:93473
Fraser Syndrome 1	Clitoral hypertrophy, Abnormal middle ear morphology, Abnormal pinna morphology, Myelomeningocele...	OMIM:219000
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe...	ORPHA:1916
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Tracheoesophageal fistula, Umbilical hernia, Craniosynostosis, I...	ORPHA:2745
Spermatogenic Failure 28	Decreased testicular size, Male infertility, Non-obstructive azoospermia	OMIM:618086
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Pulmonary hypoplasia	OMIM:616866
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Spina bifida occulta, Slender long bone, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality...	ORPHA:2840
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Cloacal Exstrophy	Abnormal fibula morphology, Abnormal tibia morphology, Absent foot, Intestinal duplication, Hemiv...	ORPHA:93929
Alagille Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Abnormal form of th...	ORPHA:52
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Hydranencephaly	OMIM:601355
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Emanuel Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Breech presentation, Severe hearing impairment, ...	ORPHA:96170
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho...	ORPHA:3258
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi...	ORPHA:922
Fetal Trimethadione Syndrome	Transposition of the great arteries, Abnormal helix morphology, Low-set ears, Tetralogy of Fallot...	ORPHA:1913
Odontochondrodysplasia	Abnormal metaphysis morphology, Square pelvis bone, Narrow chest, Delayed eruption of teeth, Scol...	ORPHA:166272
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull...	OMIM:200600
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Iliac crest serration, Metaphyseal irregularity, Genu varum, Irregula...	OMIM:607326
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Brachycephaly, High palate, Pyloric stenosis, Short stature, Frontal bossing, Craniosynostosis, T...	ORPHA:314575
Chand Syndrome	Imperforate hymen	ORPHA:1401
Joubert Syndrome 37	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears, High palate, Prominent metop...	OMIM:619185
Joint Laxity, Short Stature, And Myopia	Kyphoscoliosis, Multiple joint dislocation, Inguinal hernia, Pectus carinatum, Hearing impairment...	OMIM:617662
Thanatophoric Dysplasia Type 1	Abnormal metaphysis morphology, Polyhydramnios, Narrow chest, Short greater sciatic notch, Hydroc...	ORPHA:1860
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Cardiomyopathy, Low-set ears, High palate, Thoracolumbar scolios...	OMIM:616549
Shprintzen-Goldberg Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint stiffness, Arach...	ORPHA:2462
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Low-set, posteriorly rotated ears, Patent ductus arteriosus	ORPHA:261120
Trisomy 20P	Reduced bone mineral density, Abnormal hip bone morphology, Abnormal form of the vertebral bodies...	ORPHA:261318
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Difficulty walking, Genu valgum, G...	ORPHA:488627
Gm1 Gangliosidosis Type 1	Abnormal placenta morphology, Hydrops fetalis, Beaking of vertebral bodies T12-L3, Spatulate ribs...	ORPHA:79255
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ...	OMIM:305390
Hyperproinsulinemia	Hyperinsulinemia, Hyperglycemia	OMIM:616214
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Platyspondyly, Abnormal femoral neck/...	ORPHA:163649
Holt-Oram Syndrome	Pectus excavatum, Kyphosis, Broad thumb, Joint stiffness, Absent thumb, Abnormal clavicle morphol...	ORPHA:392
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Monosomy 9Q22.3	Polydactyly, Abnormality of the vertebral column, Hydrocephalus, Metopic synostosis, Delayed erup...	ORPHA:77301
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Craniosynostosis	OMIM:614416
Pelvis-Shoulder Dysplasia	Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Hypoplastic acetabulae, Hy...	OMIM:169550
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune hydrops fetalis...	OMIM:265380
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif...	OMIM:604864
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Narrow chest, Vertebral compression fracture, Angulated humerus, Wormian bones, Short...	OMIM:616229
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Abnormal external genitalia, Aplasia of the uterus, Primary amenorrhea, Ap...	OMIM:158330
Progressive Supranuclear Palsy-Corticobasal Syndrome	Somatic sensory dysfunction, Jerky head movements, Dysphagia, Bradykinesia	ORPHA:240103
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ...	OMIM:618858
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flare...	OMIM:602111
Omphalocele	Premature birth, Fetal ultrasound soft marker, Omphalocele	ORPHA:660
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:249670
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Attached earlobe, Low-set ears, Posteriorly rotated ears, Ventricular se...	OMIM:616920
Osteogenesis Imperfecta, Type Iii	Slender long bone, Wide anterior fontanel, Thin ribs, Tibial bowing, Scoliosis, Pulmonary arteria...	OMIM:259420
Poland Syndrome	Congenital diaphragmatic hernia, Reduced bone mineral density, Asymmetry of the thorax, Abnormal ...	ORPHA:2911
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the...	ORPHA:2064
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Low-set, posteriorly rotated ears, Hypoplastic aortic arch, Abn...	ORPHA:261311
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ...	OMIM:616329
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Short clavicles, Low-set ears, Flat acetabular roof, Chiari malformatio...	OMIM:617159
Androgen Insensitivity Syndrome	Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, Pr...	OMIM:300068
Osteogenesis Imperfecta, Type X	Tibial bowing, Thoracic hypoplasia, Dentinogenesis imperfecta, Joint hypermobility, Broad ribs, F...	OMIM:613848
Hypophosphatasia, Infantile	Stillbirth, Polyhydramnios, Unossified vertebral bodies, Metaphyseal cupping, Short ribs, Vertebr...	OMIM:241500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Cerebellar cyst, Abnormality of the vertebral column, Abnormal rib morphology, Conductive hearing...	OMIM:601076
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut...	ORPHA:90797
Chondrodysplasia, Blomstrand Type	Stillbirth, Hydrops fetalis, Polyhydramnios, Abnormal vertebral morphology, Narrow chest, Flared ...	OMIM:215045
Spondyloepiphyseal Dysplasia, Kimberley Type	Genu valgum, Flat capital femoral epiphysis, Delayed skeletal maturation, Platyspondyly, Genu varum	OMIM:608361
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch	OMIM:271620
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Imperforate hymen, Hematocolpos, Tethered cord, Chordee, Cryptorchidism, Hydrocele t...	OMIM:619522
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Pectus carinatum, Sensorineural hearing impairment, Cerebellar atrophy,...	ORPHA:309282
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Inappropriate behavior, Aggressive behavior,...	OMIM:221770
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c...	ORPHA:3068
3C Syndrome	Abnormal hip bone morphology, Kyphosis, Death in infancy, Pulmonic stenosis, Aortic valve stenosi...	ORPHA:7
Meckel Syndrome 14	Pneumothorax, Occipital encephalocele, Pulmonary hypoplasia, Holoprosencephaly	OMIM:619879
Mosaic Trisomy 20	Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Heari...	ORPHA:1724
Kleefstra Syndrome 2	Growth delay, Plagiocephaly, Bifid uvula, Everted lower lip vermilion	OMIM:617768
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Humeroradial synostosis, Proximal symphalangism, Brachyd...	OMIM:610017
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea...	ORPHA:247815
Burn-Mckeown Syndrome	Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge	ORPHA:1200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Pulmonary hypoplasia, Encephalocele	ORPHA:1865
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Pectus excavatum, W...	ORPHA:800
Charge Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Absent tibia, Tracheoesopha...	OMIM:214800
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Optic nerve hypoplasia, Arachnodactyly, Bifid uvula, Absent thumb, Lateral ventri...	ORPHA:500150
Maternal Uniparental Disomy Of Chromosome 2	Respiratory infections in early life, Pulmonary hypoplasia	ORPHA:96179
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Pulmonary artery atresia, Low-set ears, Pulmonic stenosis, Hearing impair...	OMIM:301056
Waardenburg Syndrome, Type 1	Telecanthus, Myelomeningocele, Spina bifida, Synophrys, Thick eyebrow, White eyelashes, Congenita...	OMIM:193500
Ciliary Dyskinesia, Primary, 6	Absent/shortened outer dynein arms, Recurrent respiratory infections, Recurrent sinusitis, Abnorm...	OMIM:610852
Adams-Oliver Syndrome 1	Imperforate hymen, Encephalocele	OMIM:100300
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Craniosynostosis, Herrmann-Opitz Type	Aplasia/Hypoplasia of the lungs	ORPHA:2145
Bartsocas-Papas Syndrome 1	Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Inferiorly positioned umbilicus...	OMIM:263650
Global Developmental Delay With Or Without Impaired Intellectual Development	Pulmonary sequestration	OMIM:618330
Clark-Baraitser Syndrome	Brachycephaly, Short philtrum, Exaggerated cupid's bow, High palate, Downturned corners of mouth,...	OMIM:617752
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Cat-Eye Syndrome	Anal atresia, Abnormal rib morphology, Hearing impairment, Hip dysplasia, Intrauterine growth ret...	ORPHA:195
Wildervanck Syndrome	Hearing impairment, Fused cervical vertebrae, Pseudopapilledema, Abnormality of the outer ear	OMIM:314600
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Rubinstein-Taybi Syndrome 1	Perimembranous ventricular septal defect, Spina bifida occulta, Patent foramen ovale, Low-set ear...	OMIM:180849
Fibrodysplasia Ossificans Progressiva	Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o...	OMIM:135100
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Sensorineural hearing impairment, Delayed skeletal maturation, Syndactyly, Joint...	OMIM:151050
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Tetrasomy 5P	Hydrocephalus, Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:3309
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Low-set, posteriorly rotated ears, Meningocele, Anteverted nares, Glossoptosis, Protr...	ORPHA:2031
Spondyloepiphyseal Dysplasia, Kimberley Type	Short thorax, Platyspondyly, Osteoarthritis, Abnormal epiphysis morphology	ORPHA:93283
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest...	OMIM:615558
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Limb ataxia, Microcephaly, Basal ganglia gliosis, Cerebral cortic...	OMIM:607596
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Aplasia/Hypoplasia of the th...	ORPHA:233
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Hearing impairment, Coarctation of aorta, Abnormal he...	ORPHA:284169
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte...	OMIM:618469
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Spondyloperipheral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Sensorineural hearing impai...	OMIM:271700
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Microtia, Short long bone, Pectu...	OMIM:611717
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI, Flexion contracture, Cerebellar hypoplasia	OMIM:617562
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Avas...	ORPHA:137834
Frontofacionasal Dysplasia	Short nose, Encephalocele, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, Depressed nasal...	ORPHA:1791
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Pectus carinatum, Kyphosis, Tracheoesophageal fistula, Split foo...	ORPHA:958
Duane-Radial Ray Syndrome	Sandal gap, Sensorineural hearing impairment, Short humerus, Absent thumb, Syndactyly, Absent rad...	OMIM:607323
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Finger syndactyly, Hydrocephalus, Abnormal pinna morphology, Dan...	ORPHA:1647
Humero-Radial Synostosis	Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Meningocele	ORPHA:3265
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Mosaic Trisomy 8	Clinodactyly of the 5th finger, Narrow chest, Abnormal antihelix morphology, Abnormal pinna morph...	ORPHA:96061
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Polyhydramnios, Clinodactyly of the 5th finger, Sacral dimple, Inguinal hernia, Duod...	OMIM:247200
Lamb-Shaffer Syndrome	Optic atrophy, Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Hip dysplasia	ORPHA:530983
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Chronic otitis media, Low-set ears, Abnormal rib morphology	ORPHA:276422
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ...	ORPHA:50815
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Sensorineural hearing impairment, Abnormal aortic morphology	ORPHA:3222
Verloove Vanhorick-Brubakk Syndrome	Aplasia/Hypoplasia of the lungs	ORPHA:3429
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia	OMIM:145420
Pyruvate Dehydrogenase E2 Deficiency	Microcephaly, Jerky head movements, Choreoathetosis, Ataxia	OMIM:245348
Cerebellar-Facial-Dental Syndrome	Inferior cerebellar vermis hypoplasia, Foot joint contracture, Slender long bone, Inguinal hernia...	ORPHA:444072
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Craniosynostosis 6	Dandy-Walker malformation, Agenesis of corpus callosum, Spina bifida occulta, Lateral ventricle d...	OMIM:616602
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Monosomy 18Q	Pulmonary valve defects, Aortic aneurysm, Dysplastic pulmonary valve, Sensorineural hearing impai...	ORPHA:1600
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Hyperphosphatemia	OMIM:127000
Auriculocondylar Syndrome 2B	Abnormality of the cervical spine, Question mark ear, Darwin tubercle of helix, Omphalocele	OMIM:620458
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum...	OMIM:619737
Grant Syndrome	Abnormal cortical bone morphology, Narrow chest, Joint dislocation, Joint hypermobility, Bowing o...	ORPHA:2097
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Short philtrum, Ectopic anus, Downturned corners of mouth, Cleft palate	ORPHA:94066
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Inguinal hernia, Abnormal form of the vertebral bodies, Sh...	ORPHA:3218
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Diabetes Mellitus, Transient Neonatal, 3	Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, ...	OMIM:610582
Cystinosis	Retinopathy, Hypophosphatemia, Hypokalemia	ORPHA:213
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Abnormality of the cervical spine, Superior rib anomalies	OMIM:307500
Joubert Syndrome 2	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Encephalocele, Elongated superior c...	OMIM:608091
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Fused cervical vertebrae, Scoliosis, Anal atresia, Short middle phalanx of finger, Thoracic hemiv...	ORPHA:1436
Holoprosencephaly 14	Aqueductal stenosis, Aortic valve atresia, Hydrocephalus, Alobar holoprosencephaly, Low-set ears,...	OMIM:619895
Renpenning Syndrome	Abnormal thumb morphology, High, narrow palate, Clinodactyly of the 5th finger, Sensorineural hea...	ORPHA:3242
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Anteverted nares, Short nose, Wide nasal bridge	OMIM:618577
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Myopia 25, Autosomal Dominant	Retinal detachment	OMIM:617238
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Barrel-shaped chest, Hip osteoarthritis, Hypoplastic iliac wing, Scoliosis, ...	OMIM:313400
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Low-set ears, High palate, Broad nasal tip, Prominent nasal bridge, Umbilical hernia	OMIM:613544
Scarf Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal form of the vertebral bodies, Pectus...	ORPHA:3134
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Stickler Syndrome, Type I	Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Spondylolisthesis, Sensorineu...	OMIM:108300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari...	ORPHA:93360
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Occipital encephalocele, Cerebellar cyst, Abnormal brainstem morphology, Optic ner...	ORPHA:370959
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Aortic valve stenosis, Intrauterine growth retardation, Joi...	OMIM:607095
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Chromosome 1Q41-Q42 Deletion Syndrome	Pulmonary hypoplasia, Holoprosencephaly	OMIM:612530
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the...	ORPHA:2234
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Ventriculomegaly, Colpocephaly	OMIM:616034
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Congestive heart failure, Hydrops fetalis, Inguinal hernia, Scoliosi...	OMIM:230500
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Osteogenesis Imperfecta, Type V	Osteopenia, Anterior radial head dislocation, Platyspondyly, Vertebral wedging, Hyperextensibilit...	OMIM:610967
Joubert Syndrome 9	Scoliosis, Molar tooth sign on MRI, Encephalocele	OMIM:612285
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Sensorineural hearing impairment, Pulmonic stenosis, Aortic valve stenosis, Coarctation of aorta,...	ORPHA:353281
Diaphanospondylodysostosis	Decreased skull ossification, Absent fetal nasal bone, Thoracic hypoplasia, Unossified sacrum, In...	OMIM:608022
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Mixed hearing impairment, Multiple joint dislocation, Pectus carinatum, Pectus ex...	ORPHA:536467
Intellectual Developmental Disorder, Autosomal Dominant 52	Breech presentation, Cervical C2/C3 vertebral fusion, Pectus carinatum, Sensorineural hearing imp...	OMIM:617796
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Ag...	OMIM:614120
Myoectodermal Gonadal Dysgenesis Syndrome	Limited elbow extension, Sensorineural hearing impairment, Bifid distal phalanx of toe, Scoliosis...	OMIM:618419
Li-Campeau Syndrome	Patent foramen ovale, Low-set ears, Patent ductus arteriosus, Atrial septal defect, Ventricular s...	OMIM:619189
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Short philtrum, Narrow mouth, Short stature, Wide mouth, Thick vermilion border, U...	OMIM:615834
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Global sys...	OMIM:606842
Ulnar-Mammary Syndrome	Imperforate hymen, Bicornuate uterus, Small scrotum, Shawl scrotum, Micropenis	OMIM:181450
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Patent foramen ova...	OMIM:301043
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Pulmonary hypoplasia	OMIM:251230
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Hydrocephalus, 2-3 toe syndactyly, Short r...	OMIM:617866
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Abnormal earlobe morphology, Proximal tibial and fibular fusion, Abnormal pin...	ORPHA:95699
Intellectual Developmental Disorder, Autosomal Dominant 66	Transposition of the great arteries, Aortic root aneurysm, Low-set ears, Secundum atrial septal d...	OMIM:619910
Combined Oxidative Phosphorylation Deficiency 47	Sensorineural hearing impairment, Low-set ears, Short palm, Short neck, Posteriorly rotated ears,...	OMIM:618958
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Abnormal cortical gyration, Oral-p...	ORPHA:2524
Catel-Manzke Syndrome	Chronic otitis media, Atrial septal defect, Ventricular septal defect, Low-set, posteriorly rotat...	ORPHA:1388
Schinzel-Giedion Syndrome	Kyphoscoliosis, Stiff elbow, Tibial bowing, Umbilical hernia, Short distal phalanx of finger, Ove...	ORPHA:798
Autosomal Recessive Stickler Syndrome	Genu valgum, Platyspondyly, Sensorineural hearing impairment, Epiphyseal dysplasia, Cleft palate,...	ORPHA:250984
17P13.3 Microduplication Syndrome	Low-set ears, Short nose, High palate, Wide nose	ORPHA:217385
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Spondyloepimetaphyseal Dysplasia, Shohat Type	Narrow greater sciatic notch, Bell-shaped thorax, Vertebral compression fracture, Flared metaphys...	OMIM:602557
Osteogenesis Imperfecta, Type Xviii	Vertebral compression fracture, Thin ribs, Femoral bowing, Bowing of the long bones, Biconcave ve...	OMIM:617952
Desbuquois Dysplasia 2	Pectus carinatum, Short long bone, Flat acetabular roof, Pectus excavatum, Short metacarpal, Broa...	OMIM:615777
Lumbar Syndrome	Hypospadias, Bifid scrotum, Myelomeningocele, Spina bifida, Bifid uterus, Ambiguous genitalia, Cr...	ORPHA:83628
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Multiple Pterygium-Malignant Hyperthermia Syndrome	Advanced eruption of teeth, Polyhydramnios, Inguinal hernia, Finger syndactyly, Prenatal movement...	ORPHA:2215
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Irregular epiphyses, Barrel-shaped chest, Low-set ears, Broad thumb, Short neck, Me...	OMIM:612813
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Short nose, Hydrocephalus, Anteverted nares, Microtia, Low-set ears, Umbilical hernia, Depressed ...	ORPHA:171839
Hartsfield Syndrome	Encephalocele, Non-midline cleft of the upper lip, Lobar holoprosencephaly, Cleft palate, Intraut...	ORPHA:2117
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Knee flexion contracture, Inguinal hernia, Scoliosis, Elbow flexion contracture...	OMIM:616266
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Atrial septal defect, Hydrocephalus, Patent ductus arteriosus	OMIM:614886
Heterotaxy, Visceral, 5, Autosomal	Partial anomalous pulmonary venous return, Atrioventricular canal defect, Double inlet left ventr...	OMIM:270100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Three M Syndrome 2	Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, In...	OMIM:612921
Blepharocheilodontic Syndrome 1	Neural tube defect, Euryblepharon, Distichiasis, Ectropion of lower eyelids, Lagophthalmos	OMIM:119580
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Microtia, Conotruncal defect, Anotia	OMIM:243440
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Bullet-shaped phalang...	OMIM:252500
Atelosteogenesis Type I	Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Polyhydramnios, Narrow...	ORPHA:1190
Grange Syndrome	Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus	ORPHA:79094
Meier-Gorlin Syndrome 1	Breech presentation, Absent sternal ossification, Pectus carinatum, Microtia, Short ribs, Death i...	OMIM:224690
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spondylometaphyseal Dysplasia, Schmidt Type	Narrow greater sciatic notch, Kyphoscoliosis, Short long bone, Abnormality of the epiphysis of th...	ORPHA:93316
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe...	OMIM:606176
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Spondyloepimetaphyseal Dysplasia, Shohat Type	Generalized bone demineralization, Short long bone, Hyperlordosis, Thoracic hypoplasia, Metaphyse...	ORPHA:93352
Chromosome 17P13.1 Deletion Syndrome	Telecanthus, Hydrocephalus, Highly arched eyebrow, Spina bifida, Synophrys, Ptosis, Downslanted p...	OMIM:613776
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation	OMIM:617668
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level	OMIM:618856
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology	OMIM:269630
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Bardet-Biedl Syndrome 19	Partial atrioventricular canal defect, Hearing impairment, Patent ductus arteriosus, Atrial septa...	OMIM:615996
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes...	ORPHA:99429
Pendred Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque...	ORPHA:705
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia	ORPHA:398063
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Sandal gap, Cleft soft palate, Prominent fingertip pads, Low-set ears, Camptodact...	OMIM:618529
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Postaxial hand p...	ORPHA:2166
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, Macroglo...	OMIM:607155
Mucopolysaccharidosis, Type Iiic	Beaking of vertebral bodies, Kyphoscoliosis, Dense calvaria, Asymmetric septal hypertrophy, Heari...	OMIM:252930
Scarf Syndrome	Lambdoidal craniosynostosis, Barrel-shaped chest, Inguinal hernia, Abnormal form of the vertebral...	OMIM:312830
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Recurrent otitis media, Anteverted nares, High palate, Glossoptosis, Low-set ears, He...	OMIM:613604
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty...	ORPHA:93323
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia, Frontal encephalocele	OMIM:218670
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Scoliosis, Vertebral segmentation defect, Pectus excav...	ORPHA:2970
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic girdle bone morphology, Abn...	ORPHA:1506
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Joubert Syndrome 13	Cerebellar vermis hypoplasia, Molar tooth sign on MRI	OMIM:614173
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Mucopolysaccharidosis Type 6	Chronic otitis media, Abnormal metaphysis morphology, Genu valgum, Kyphosis, Hearing impairment, ...	ORPHA:583
Crouzon Syndrome	Optic atrophy, Narrow palate, Hydrocephalus, Multiple suture craniosynostosis, Hearing impairment...	ORPHA:207
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate, Intrauterine growth retarda...	OMIM:611134
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Bruck Syndrome 2	Osteopenia, Platyspondyly, Inguinal hernia, Pterygium, Pectus carinatum, Femoral bowing, Elbow fl...	OMIM:609220
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cone-shaped epiphyses of the phalanges of the hand, Irregularity of vertebral bodies, Short palm,...	ORPHA:85172
Edinburgh Malformation Syndrome	Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Choanal atresia	ORPHA:1895
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide con...	ORPHA:157215
Acrocephalopolydactylous Dysplasia	Pulmonary hypoplasia, Extrapulmonary lobar sequestration	OMIM:200995
Genitourinary And/Or Brain Malformation Syndrome	Kyphoscoliosis, Dysplastic corpus callosum, Ileal atresia, Low-set ears, Chiari malformation, Omp...	OMIM:618820
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis	OMIM:613702
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Depressed nasal ridge, Cleft palate, Depressed nasal bri...	ORPHA:1248
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Vertebral Hypersegmentation And Orofacial Anomalies	Darwin tubercle of helix, Inguinal hernia, Scapular winging, Pectus excavatum, Unilateral cleft p...	OMIM:619122
Alg9-Cdg	Narrow greater sciatic notch, Abnormal bone ossification, Short long bone, Cerebellar atrophy, Bi...	ORPHA:79328
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted nares, Hearing impairmen...	ORPHA:2701
Warsaw Breakage Syndrome	Hearing impairment, Tetralogy of Fallot, Optic disc coloboma, Ventricular septal defect, Cupped e...	OMIM:613398
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Primary amenorrhea,...	OMIM:273250
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly	OMIM:618731
Osteogenesis Imperfecta, Type Viii	Tibial bowing, Femoral bowing, Short metacarpal, Kyphosis, Decreased skull ossification, Multiple...	OMIM:610915
Microhydranencephaly	Hydranencephaly, Athetosis, Microcephaly, Macrotia, Pachygyria, Agenesis of corpus callosum, Vent...	OMIM:605013
Developmental And Epileptic Encephalopathy 73	Sensorineural hearing impairment, Short nose, Narrow nasal bridge	OMIM:618379
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Periventricular leukomalacia, Thin corpus callosum, Hammertoe, Hydrocephalus, Micr...	OMIM:619833
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Fetal distress, Periostitis, Fused cervical vertebrae, Flaring of rib cage, Osteomyel...	OMIM:612852
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Scoliosis, Low-set ears, Camptodactyly, Tricuspid regurgitation, Hearing impairmen...	OMIM:616894
Potocki-Shaffer Syndrome	Brachycephaly, Turricephaly, Short philtrum, Parietal foramina, Downturned corners of mouth	OMIM:601224
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Flared iliac wing, Kyphosis, Biconcave vertebral bodies, ...	OMIM:607014
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Thin vermilion border, Dental crowding, Oligodontia, High palate, Narrow mouth, Sh...	ORPHA:251019
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Recurrent otitis media, Breech presentation, Narrow chest, Hydrocephalu...	OMIM:616482
Craniotelencephalic Dysplasia	Optic atrophy, Low-set, posteriorly rotated ears, Hydrocephalus, Septo-optic dysplasia, Microceph...	ORPHA:1528
Enlarged Parietal Foramina	Broad thumb, Occipital encephalocele, Short clavicles, Myelomeningocele	ORPHA:60015
Cach Syndrome	Globus pallidus hypointensity on susceptibility-weighted imaging, Cerebral atrophy, Optic atrophy...	ORPHA:135
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia, Branchial cyst	ORPHA:2260
Opsismodysplasia	Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Hypoplastic vertebra...	OMIM:258480
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele	ORPHA:101030
Progressive Pseudorheumatoid Dysplasia	Kyphoscoliosis, Sclerotic vertebral endplates, Platyspondyly, Enlarged metacarpophalangeal joints...	OMIM:208230
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Optic atrophy, Bicuspid aortic valve, Pulmonary artery atresia, Ventricular septal defect, Suprav...	OMIM:618164
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Pulmonary hypoplasia, Spina bifida	ORPHA:3412
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Bell-shaped thorax, Hydranencephaly, Meningocele, Tracheomalacia,...	ORPHA:1393
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Narrow chest, Broad mid...	OMIM:618853
Eng-Strom Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:1937
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Barrel-shaped chest, Pectus carinatum, Arthritis, Knee pain, Hypoplasia of the od...	OMIM:184100
Aortic Arch Interruption	Bicuspid aortic valve, Transposition of the great arteries, Aortic valve atresia, Aortopulmonary ...	ORPHA:2299
Joubert Syndrome 16	Polydactyly, Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele	OMIM:614465
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Brachycephaly, Encephalocele, Conical tooth, Abnormality of the dentition, Coronal craniosynostos...	ORPHA:228390
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormal lung lobation, Aplasia/Hypoplasia of the lungs	ORPHA:2063
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Kyphoscoliosis, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis...	OMIM:612350
Geroderma Osteodysplastica	Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Vertebral compression fra...	ORPHA:2078
Chopra-Amiel-Gordon Syndrome	Postnatal growth retardation, Brachycephaly, Short philtrum, Short stature, Cleft palate, Pierre-...	OMIM:619504
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete...	OMIM:604367
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Osteoporosis, Delayed skeletal maturation, Enamel hypoplasia, Metaphyseal dy...	OMIM:234250
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Recurrent otitis media, Dextrocardia, Persistent left superior vena cava,...	OMIM:615067
Spermatogenic Failure 14	Round spermatid arrest, Male infertility, Azoospermia	OMIM:615842
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology	ORPHA:2516
Multiple Acyl-Coa Dehydrogenase Deficiency	Pulmonary hypoplasia	OMIM:231680
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Reduced bone mineral density, Abnormal form of th...	ORPHA:581
Mosaic Trisomy 9	Rocker bottom foot, Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hy...	ORPHA:99776
Manitoba Oculotrichoanal Syndrome	Vaginal atresia	OMIM:248450
Joubert Syndrome 10	Molar tooth sign on MRI, Polyhydramnios, Cerebellar vermis hypoplasia, Low-set ears, Postaxial ha...	OMIM:300804
Marden-Walker Syndrome	Pulmonary hypoplasia	OMIM:248700
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Brachycephaly, High palate, Short stature, Downturned corners of mo...	OMIM:300590
Mmep Syndrome	Microphthalmia	ORPHA:3434
Ocular Motor Apraxia	Jerky head movements	OMIM:257550
Avascular Necrosis Of Femoral Head, Primary, 2	Platyspondyly, Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Giant Cell Arteritis	Optic atrophy, Vasculitis, Vertigo, Double outlet right ventricle with subpulmonary ventricular s...	ORPHA:397
Potocki-Shaffer Syndrome	Delayed puberty, Brachycephaly, Short philtrum, Parietal foramina, Downturned corners of mouth	ORPHA:52022
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus art...	OMIM:616276
Spondylodysplastic Ehlers-Danlos Syndrome	Kyphoscoliosis, Subluxation of the small joints of the hand, Pectus carinatum, Optic nerve hypopl...	ORPHA:536471
Stickler Syndrome, Type Iv	Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Sensorineural hearin...	OMIM:614134
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Optic nerve hypoplasia, Chiari malformation, ...	OMIM:609053
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Scoliosis, Anal atresia, Prominent metopic ridge, Short middle phalanx ...	OMIM:309620
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Thin corpus callosum, Inability to walk, Microcephaly, Shortening of all distal phalanges of the ...	OMIM:615716
Fatty Acyl-Coa Reductase 1 Deficiency	Macrotia, Short nose, Depressed nasal bridge	ORPHA:438178
Craniosynostosis 2	Brachycephaly, Supernumerary tooth, Turricephaly, Cleft soft palate, Unicoronal synostosis, Bicor...	OMIM:604757
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Bell-shaped thorax, Scoliosis, Wormian bones, Pectus excavatum, Bowing of th...	OMIM:619131
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia...	OMIM:156500
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os...	OMIM:156510
Mucopolysaccharidosis, Type Iiib	Dense calvaria, Asymmetric septal hypertrophy, Hearing impairment, Joint stiffness, Ovoid thoraco...	OMIM:252920
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Pectus carinatum, Microtia, Low-set ears, Pectus excavatum,...	OMIM:609654
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Cupped ribs, Short long bone, Short ...	OMIM:608940
Saul-Wilson Syndrome	Platyspondyly, Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of th...	OMIM:618150
Campomelic Dysplasia	Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Pectus carinatum, Hypoplasti...	OMIM:114290
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Short philtrum, Alobar holoprosencephaly, High palate, Dolichocephaly	OMIM:615433
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Platyspondyly, Barrel-shaped chest, Short metatarsal, Pectu...	OMIM:615222
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Butterfly vertebrae, Corneal neovascularization, Aganglionic megacolon, Death in childhood, Ingui...	OMIM:308205
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Aortic regurgitation, Broad clavicles, ...	OMIM:619698
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Delayed eruption of permane...	OMIM:618506
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect, Low-set ears, Patent ductus arteriosus	OMIM:618974
Hyperparathyroidism, Transient Neonatal	Osteopenia, Polyhydramnios, Subperiosteal bone formation, Narrow chest, Inguinal hernia, Thin rib...	OMIM:618188
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Osteoporosis, Dentinogenesis imperfe...	ORPHA:71267
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Abnormal sternum morphology, Sensorineural hearing impairment, Mi...	ORPHA:93932
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien...	ORPHA:99886
Aortic Aneurysm, Familial Thoracic 7	Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm	OMIM:613780
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology	ORPHA:3405
Bor Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Facial palsy, Abnormality of ...	ORPHA:107
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Platyspondyly, Cerebellar hypoplasia, Narrow chest, Short metacarpal, Abnormal rib m...	ORPHA:93317
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia	OMIM:619708
Infantile-Onset X-Linked Spinal Muscular Atrophy	Kyphoscoliosis, Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, Hi...	ORPHA:1145
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
46,Xy Ovotesticular Difference Of Sex Development	Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita...	ORPHA:325345
Congenital Myopathy 17	Pulmonary hypoplasia, Respiratory tract infection	OMIM:618975
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Cervical C2/C3 vertebral fusion, Low-set ears, Camptodactyly, Intrauterine growth retardation, Jo...	OMIM:617333
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Inability to w...	ORPHA:79243
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short long bone, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu...	OMIM:618019
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Short long bone, Postaxial polydactyly, ...	OMIM:615633
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Sen...	OMIM:215150
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Abnormality of the outer ear	ORPHA:2515
Stickler Syndrome Type 1	Abnormal vertebral epiphysis morphology, Sensorineural hearing impairment, Abnormal epiphysis mor...	ORPHA:90653
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited...	OMIM:277590
Mucopolysaccharidosis Type 1	Chronic otitis media, Optic atrophy, Abnormal metaphysis morphology, Congestive heart failure, Ab...	ORPHA:579
C Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Clinodactyly of the 5th finger, Low-set, posteri...	ORPHA:1308
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Neurooculocardiogenitourinary Syndrome	Sensorineural hearing impairment, Patent foramen ovale, Low-set ears, Patent ductus arteriosus, C...	OMIM:618652
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Conductive he...	OMIM:184460
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Irregular vertebral endp...	OMIM:612847
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Intrauterine growth retardation, Short nose, Low-set, posteriorly rotated ears	ORPHA:2370
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620156
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Optic nerve hypoplasia, Short distal phalanx of toe, Short distal phala...	ORPHA:79345
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Sensorineural hearing impairment, Stroke, Atrial septal defect, Ventricular septal...	ORPHA:49827
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, High, narrow palate, Ethmoidal encephalocele, Brachyturricephaly, Cleft upper lip,...	OMIM:607597
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Short ribs, Aplasia of the epiglottis, Cerebellar vermis hypoplasia, Dan...	OMIM:615948
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Dextr...	OMIM:605376
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect	OMIM:212090
Garg-Mishra Progeroid Syndrome	Narrow chest, Slender long bone, Thin ribs, Persistent open anterior fontanelle, Ovoid vertebral ...	OMIM:620601
Joubert Syndrome 1	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Elongated superior cerebellar pedun...	OMIM:213300
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Tetralogy of Fallot, Posteriorly rotated ears, Atrial septal defect, Opt...	OMIM:300887
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonary hypoplasia, Anencephaly, Encephalocele	OMIM:619148
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Delayed skeletal maturation, Enamel hypoplasia, Brachydactyly, Abnormal ...	ORPHA:2643
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Teebi Hypertelorism Syndrome 2	Short nose, Delayed eruption of teeth, High palate, Hearing impairment, Cleft palate, Broad nasal...	OMIM:619736
Mucopolysaccharidosis, Type Iiid	Recurrent otitis media, Inguinal hernia, Elbow flexion contracture, Low-set ears, Cerebellar atro...	OMIM:252940
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Spina bifida occulta, Abnormal pinna morphology, Abnormal rib morphology, Broad femor...	ORPHA:488434
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Distal Deletion 15Q	Abnormal aortic arch morphology, Low-set ears, Hearing impairment, Coarctation of aorta, Double o...	ORPHA:1596
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Dental crowding, Frontal bossing, Plagiocephaly	OMIM:619264
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal earlobe morphology, Abn...	ORPHA:2769
X-Linked Hypophosphatemia	Reduced bone mineral density, Sensorineural hearing impairment, Flared iliac wing, Abnormal epiph...	ORPHA:89936
Blomstrand Lethal Chondrodysplasia	Hydrops fetalis, Polyhydramnios, Platyspondyly, Narrow chest, Flared metaphysis, Short thorax, Br...	ORPHA:50945
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Abnormal antihelix morphology, Thoracic kyphosis, Low-se...	ORPHA:85194
Bent Bone Dysplasia Syndrome 2	Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Thin ribs, ...	OMIM:620076
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p...	ORPHA:1686
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Pectus carinatum, Generalized osteoporosis, Short palm, Shield chest...	OMIM:184095
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Osteoglosphonic Dysplasia	Abnormal clavicle morphology, Abnormal bone ossification, Inguinal hernia, Abnormal form of the v...	ORPHA:2645
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, F...	OMIM:226980
Sirenomelia	Aplasia/Hypoplasia of the radius, Sirenomelia, Absence of the sacrum, Spina bifida	ORPHA:3169
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Weiss-Kruszka Syndrome	Protruding ear, Microtia, Low-set ears, Hearing impairment, Horizontal crus of helix, Dextrotrans...	OMIM:618619
De Barsy Syndrome	Hypoplastic aortic arch, Prominent veins on trunk, Low-set ears, Bilateral sensorineural hearing ...	ORPHA:2962
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Scoliosis, Low-set ears, Short metacarpal, Kyphosis, Osteoporosi...	OMIM:617190
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Posteriorly rotated ears, Pa...	OMIM:613870
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor...	OMIM:616900
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Recurrent otitis media, Abnormal earlobe morphology, Sensorineural hearing impairment, Patent for...	ORPHA:500159
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Dysplastic corpus callosum, Inability to walk, Dandy-Walker malformation,...	ORPHA:357058
Hypercholesterolemia, Familial, 4	Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia	OMIM:603813
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Short clavicles, Short long bone, Short ribs, Low-set ears, Postaxial hand poly...	OMIM:617088
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Cebalid Syndrome	Short nose, Anteverted nares, Abnormal pinna morphology, High palate, Low-set ears, Depressed nas...	OMIM:618774
Down Syndrome	Atrioventricular canal defect, Aganglionic megacolon, Patent ductus arteriosus, Patent foramen ov...	OMIM:190685
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Recurrent otitis media, Patent foramen ovale, Low-set ears, Hearing impairment, Coarctation of ao...	OMIM:618494
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly	ORPHA:35099
Neu-Laxova Syndrome 2	Rocker bottom foot, Finger syndactyly, Low-set ears, Spina bifida, Microcephaly, Toe syndactyly, ...	OMIM:616038
Arthrogryposis Multiplex Congenita 5	Rocker bottom foot, Kyphoscoliosis, Limitation of knee mobility, Death in infancy, Decreased feta...	OMIM:618947
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Thin vermilion border, Flat occiput, Brachycephaly, High palate, In...	OMIM:613792
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Pe...	OMIM:618161
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Low-set, posteriorly rotated ears, Spina bifida occulta, Microtia, Severe sensorineur...	ORPHA:2983
Pfeiffer Syndrome Type 1	Aqueductal stenosis, Short nose, High palate, Low-set ears, Hearing impairment, Depressed nasal b...	ORPHA:93258
Intellectual Developmental Disorder, Autosomal Dominant 56	Secondary microcephaly, Bradykinesia, Protruding ear, Thin corpus callosum, Inability to walk, Br...	OMIM:617854
Craniofacial Microsomia 1	Occipital encephalocele, Unilateral external ear deformity, Hydrocephalus, Sensorineural hearing ...	OMIM:164210
Myhre Syndrome	Abnormal metaphysis morphology, Platyspondyly, Inguinal hernia, Craniofacial hyperostosis, Hypert...	ORPHA:2588
Pontocerebellar Hypoplasia, Type 3	Brachycephaly, High, narrow palate, High palate, Short stature, Downturned corners of mouth, Long...	OMIM:608027
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Craniometadiaphyseal Dysplasia	Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Scoliosis, Lo...	OMIM:269300
Developmental And Epileptic Encephalopathy 95	Pectus carinatum, Cerebellar atrophy, Umbilical hernia, Short distal phalanx of finger, Joint hyp...	OMIM:618143
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Broad ...	ORPHA:157965
Aortic Aneurysm, Familial Thoracic 9	Ascending aortic dissection, Mitral valve prolapse, Aortic tortuosity, Thoracic aortic aneurysm	OMIM:616166
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Low-set ears, Coarctation of aorta, Secundum atrial sep...	OMIM:600987
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Epilepsy With Eyelid Myoclonia	Abnormal head movements	ORPHA:139431
Mosaic Trisomy 16	Abnormal lung morphology, Large placenta, Pulmonary hypoplasia	ORPHA:1708
Joubert Syndrome 21	Occipital encephalocele, Pulmonary hypoplasia, Encephalocele	OMIM:615636
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Mildly elevated creatine kinase, Hyperglycemia, Hyperlipidemia	OMIM:604484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Non-Syndromic Metopic Craniosynostosis	Omphalocele	ORPHA:3366
Frontonasal Dysplasia 1	Low-set ears, Anterior basal encephalocele, Conductive hearing impairment, Tetralogy of Fallot, C...	OMIM:136760
Genitopatellar Syndrome	Pulmonary hypoplasia	ORPHA:85201
Fetal Valproate Spectrum Disorder	Omphalocele	ORPHA:1906
Acrofacial Dysostosis, Catania Type	Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Spina bifida occulta, Inguinal...	ORPHA:1786
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Joint stiffness, ...	ORPHA:354
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal subclavian artery morphology, Sensorineural hearing impairment, Patent foramen ovale, Lo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal subclavian artery morphology, Sensorineural hearing impairment, Patent foramen ovale, Lo...	ORPHA:353277
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Hypoplastic aortic arch, Aortic root aneurysm, Optic nerve hypoplasia, Patent foramen ovale, Low-...	OMIM:617506
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis, Brachycephaly	OMIM:612247
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Bilateral lung agenesis	OMIM:618021
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Hydrops fetalis, Polyhydramnios, Barrel-shaped chest...	OMIM:200610
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Abnormal autonomic nervous system ph...	OMIM:601559
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Ascending tubular aorta aneu...	ORPHA:3092
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal intervertebral disk morphology, Avascular necrosis, Hypertensi...	ORPHA:1345
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Inguinal hernia, Hydrocephalus, Scoliosis, Wormian bones, High palate, Pectus excavat...	OMIM:612940
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Short philtrum, Tooth malposition, High palate, Furrowed tongue, Everted lower lip...	ORPHA:1387
Acro-Renal-Ocular Syndrome	Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Aganglionic ...	ORPHA:959
Esophageal Atresia	Polyhydramnios, Abnormal vertebral morphology, Scoliosis, Laryngotracheomalacia, Barrett esophagu...	ORPHA:1199
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Tooth malposition, High palate, Cleft palate	OMIM:618603
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Coarctation of aorta, Ventricular septal defect	OMIM:620210
Pierpont Syndrome	Brachycephaly, Thin vermilion border, Widely spaced teeth, Long upper lip, Prominent median palat...	OMIM:602342
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Spinal dysraphism, Incomplete partition of the cochlea type II,...	OMIM:617660
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul...	OMIM:604169
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
X-Linked Intellectual Disability, Nascimento Type	Abnormal vena cava morphology, Patent foramen ovale, Hearing impairment, Macrotia, Mitral stenosi...	ORPHA:163956
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Hydrocephalus, Dolichocephaly, Intrauterine growth retardation	ORPHA:272
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Situs inversus totalis, Sensorineural hearing impairment, Stroke, Cardiomyopathy, ...	OMIM:249270
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Spina bifida occul...	OMIM:617877
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Short stature, Trigonocephaly, Decreased calvarial ossification, Cleft palate, Cra...	OMIM:618265
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Short nose, Hydrocephalus, High palate, Low-set ears, Anal atresia, Choanal ...	ORPHA:93259
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Platyspondyly, Femoral bowing, Thoracic kyphosis, Broad thumb, Delayed skel...	OMIM:619638
Acrocephalopolydactyly	Short nose, Microtia, Depressed nasal ridge	ORPHA:221054
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Protruding ear	OMIM:301039
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palate, Uni...	OMIM:610828
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Recurrent otitis media, Low-set ears, Conductive hearing impairment, Intrauterine gro...	OMIM:616910
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Abnormal location of ears, Ventricular septal defect, Patent ductus arteriosus	OMIM:218350
Kyphomelic Dysplasia	Lateral clavicle hook, Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, P...	OMIM:211350
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Breech presentation, Enlarged metaphyses, Microtia, Femoral bowing, Bifid first metacarpal, Short...	OMIM:210710
Pierpont Syndrome	Brachycephaly, Thin vermilion border, Widely spaced teeth, Long upper lip, Everted lower lip verm...	ORPHA:487825
Campomelia, Cumming Type	Hydrops fetalis, Abnormal intestine morphology, Bowing of the long bones, Abnormal rib morphology...	ORPHA:1318
Glycosylphosphatidylinositol Biosynthesis Defect 17	Chronic otitis media, Dysplastic corpus callosum, Clinodactyly of the 5th toe, Clinodactyly of th...	OMIM:618010
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pulmonary hypoplasia	OMIM:263200
Craniofacial-Deafness-Hand Syndrome	Short nose, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment, Depressed na...	ORPHA:1529
14Q24.1Q24.3 Microdeletion Syndrome	Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve...	ORPHA:401935
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Communicating hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo...	OMIM:615219
Pseudodiastrophic Dysplasia	Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform...	OMIM:264180
Paget Disease Of Bone 5, Juvenile-Onset	Angioid streaks of the fundus, Hydroxyprolinemia, Hyperuricemia, Retinopathy, Retinal degeneratio...	OMIM:239000
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Coach Syndrome 1	Occipital encephalocele, Molar tooth sign on MRI, Encephalocele, Cerebellar vermis hypoplasia, Hy...	OMIM:216360
Keutel Syndrome	Optic atrophy, Recurrent otitis media, Pulmonary artery stenosis, Hearing impairment, Ventricular...	ORPHA:85202
Tetraamelia Syndrome 1	Hydrocephalus, Low-set ears, Hypoplasia of the fallopian tube, Hypoplastic pelvis, Vaginal atresi...	OMIM:273395
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Brachycephaly, Thin upper lip vermilion, Smooth philtrum	OMIM:620688
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Abnormal bone ossification, Thin metacarpal cortices, Lumbar hemivertebrae, Slender l...	ORPHA:2463
Perlman Syndrome	Short nose, High, narrow palate, Anteverted nares, Low-set ears, Posteriorly rotated ears, Thicke...	ORPHA:2849
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Hypocholesterolemia, Short nose	OMIM:608776
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Severely reduced left ventricular ejection fraction, Aortic regurgitation...	OMIM:252600
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Dental crowding, Brachycephaly	ORPHA:320385
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Right aortic arch, Ventricular septal defect, Abnormal Eustachian tube morphology, Recurrent otit...	ORPHA:513456
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Osteopenia, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, M...	OMIM:616723
Neu-Laxova Syndrome	Abnormal cortical gyration, External genital hypoplasia, Ambiguous genitalia, Cerebral calcificat...	ORPHA:2671
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Narrow mouth, Everted lower lip vermilion, Short stature, Downturned corners of mo...	OMIM:618089
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Brachycephaly, Wide mouth, Smooth philtrum, Intrauterine growth ret...	OMIM:615419
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ...	ORPHA:456328
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Pectus carinatum, Broad clavicles, Abnormal...	OMIM:276820
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly, Downturned corners of mouth, Deep philtrum	OMIM:618859
Pterygium Colli, Isolated	Protruding ear, Short nose	OMIM:177990
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Hydrops fetalis, Anterior beaking of lumbar vertebrae, Abnormal hip b...	ORPHA:584
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Cervical C2/C3 vertebral fusion, Rectovaginal fistula, Hemiverte...	ORPHA:1780
Frontometaphyseal Dysplasia 2	Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphology, Pectus excav...	OMIM:617137
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Lateral ventricle dilatation, ...	OMIM:613154
Combined Oxidative Phosphorylation Deficiency 55	Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp...	OMIM:619743
Laryngotracheoesophageal Cleft Type 4	Intestinal atresia, Tracheoesophageal fistula, Abnormal rib morphology, Abnormal form of the vert...	ORPHA:93941
Microphthalmia/Coloboma 12	Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ...	OMIM:120200
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Kyphosis, Aplasia/hypoplasia ...	ORPHA:198
Gm1-Gangliosidosis, Type Iii	Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Scoliosis, Kyphosis, Flared iliac w...	OMIM:230650
8P23.1 Microdeletion Syndrome	Transposition of the great arteries, Atrioventricular canal defect, Abnormal pinna morphology, Ab...	ORPHA:251071
Chung-Jansen Syndrome	Short nose, Anteverted nares, High palate, Macrotia, Large earlobe	OMIM:617991
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hypoplasia of the corpus callosum, Femur fracture, Spina bifida occulta, Abnormal pinna morpholog...	OMIM:618291
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Abnormal vertebral morphology, 11 pairs of ribs, Esophageal atresia, Hydrocephalus, Hemivertebrae...	ORPHA:77298
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Sensorineural hearing impairment, Hydrocephalus, Patent ductus arteriosu...	ORPHA:250989
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Facial Paresis, Hereditary Congenital, 3	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, High palate, Poster...	OMIM:614744
6Q25 Microdeletion Syndrome	Plagiocephaly, High palate, Short stature, Cleft palate, Long philtrum	ORPHA:251056
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Low-set ears, Macrotia, Patent ductus arteriosus, Atrial septal defect...	OMIM:618142
Squalene Synthase Deficiency	Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc...	OMIM:618156
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Hydrops fetalis, E...	ORPHA:93271
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Intrauterine growth retardation, Oli...	OMIM:200980
Phace Association	Optic atrophy, Vascular dilatation, Aortic aneurysm, Optic nerve hypoplasia, Coarctation of aorta...	OMIM:606519
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Platyspondyly, Flared metaphysis, Scoliosis, Short long bone, Metap...	ORPHA:85167
Mucolipidosis Iv	Microcephaly, Optic atrophy, Cerebral dysmyelination, Dysplastic corpus callosum	OMIM:252650
Congenital Myopathy 22B, Severe Fetal	Spinal rigidity, Breech presentation, Pectus excavatum, Nonimmune hydrops fetalis, Thoracic hypop...	OMIM:620369
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Pectus carinatum, Short ribs, Short long bone, Intestin...	OMIM:263520
Cornelia De Lange Syndrome 5	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Widely spaced teeth, High pal...	OMIM:300882
Lowry-Maclean Syndrome	Short nose, High, narrow palate, Hydrocephalus, Midgut malrotation, Low-set ears, Choanal atresia...	ORPHA:2409
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Cleft palate,...	OMIM:602196
Dysosteosclerosis	Optic atrophy, Abnormal metaphysis morphology, Craniofacial hyperostosis, Delayed eruption of tee...	ORPHA:1782
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal pinna morphology, Thoracic kyphoscoliosis, Pectus excavatum, Umbilical hernia, Joint hyp...	ORPHA:1900
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Microform Holoprosencephaly	Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Cleft pala...	ORPHA:280200
Familial Congenital Mirror Movements	Fused cervical vertebrae, Agenesis of corpus callosum	ORPHA:238722
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Kyphoscoliosis, Increased susceptibility to fractures, Osteopenia, Flared metaphysis, Dysplasia o...	OMIM:615349
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Short nose, Low-set, posteriorly rotated ears, Spina bifida occulta	ORPHA:1185
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Orofacial cleft, Plagiocephaly, Intestinal malrotation, Incomplete cleft of the upper lip, Deep p...	ORPHA:77300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Dysgenesis of the cerebellar vermis, Narrow chest, Bowed humerus, Short ...	OMIM:619479
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Dental crowding, Brachycephaly	OMIM:615031
Nail-Patella Syndrome	Thickening of the lateral border of the scapula, Clinodactyly of the 5th finger, Patellar hypopla...	OMIM:161200
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the lungs	ORPHA:2549
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Lipodystrophy, Familial Partial, Type 1	Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:608600
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Optic atrophy, Cochlear degeneration	ORPHA:95433
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Genu valgum, Flared femo...	OMIM:184253
Spondyloenchondrodysplasia With Immune Dysregulation	Short iliac bones, Kyphoscoliosis, Recurrent otitis media, Barrel-shaped chest, Metaphyseal scler...	OMIM:607944
Intellectual Developmental Disorder, Autosomal Dominant 48	Recurrent otitis media, Sensorineural hearing impairment, Low-set ears, Umbilical hernia, Patent ...	OMIM:617751
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Brachyolmia Type 3	Radial deviation of finger, Barrel-shaped chest, Scoliosis, Kyphosis, Short femoral neck, Platysp...	OMIM:113500
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Cervical ins...	OMIM:617425
Hallermann-Streiff Syndrome	Hypertension, Hyperlordosis, Pectus excavatum, Joint hypermobility, Telangiectasia, Decreased num...	OMIM:234100
Feingold Syndrome Type 1	Tricuspid atresia, Interrupted aortic arch, Sensorineural hearing impairment, Tricuspid stenosis,...	ORPHA:391641
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Cardiac-Urogenital Syndrome	Mesocardia, Patent urachus, Patent ductus arteriosus, Dextrocardia, Interrupted aortic arch, Scim...	OMIM:618280
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Sensorineural hearing impairment, Type II lissencephaly, Optic nerve hypoplasia, Abnormal autonom...	ORPHA:300570
Osteogenesis Imperfecta, Type Xxiii	Osteopenia, Genu valgum, Reduced bone mineral density, Broad femoral head, Severe platyspondyly, ...	OMIM:620639
Jacobsen Syndrome	Cerebral atrophy, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Finger s...	ORPHA:2308
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, High palate	ORPHA:2598
Van Den Ende-Gupta Syndrome	Dislocated radial head, Small earlobe, Short ribs, Femoral bowing, Pectus excavatum, Arachnodacty...	OMIM:600920
Trisomy 8Q	Low-set, posteriorly rotated ears, Bone cyst, High palate, Myelomeningocele, Joint stiffness, Cam...	ORPHA:1752
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Cutis Laxa, Autosomal Recessive, Type Ic	Emphysema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Umbilical hernia, Peripheral p...	OMIM:613177
Methimazole Embryofetopathy	Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology	ORPHA:1923
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Microtia, Ventricular septal defect, Encephalocele	ORPHA:398156
New-Onset Refractory Status Epilepticus	Abnormal head movements, Abnormal basal ganglia MRI signal intensity, Focal T2 hyperintense basal...	ORPHA:363558
German Syndrome	Brachycephaly, Orofacial cleft, High palate, Everted lower lip vermilion, Short stature, Dolichoc...	ORPHA:2077
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus	OMIM:126320
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Pectus excavatum, Broad metatarsal, Broad thumb, Craniosynost...	OMIM:166250
Hydrolethalus Syndrome 1	Stillbirth, Polyhydramnios, Anencephaly, Upper limb undergrowth, Dandy-Walker malformation, Abnor...	OMIM:236680
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:607778
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Narrow chest, Delayed cranial suture closure, Femoral bowing, ...	ORPHA:83
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Short metacarpal, Broad metatarsal, Pulmonic stenosis, Aortic valve s...	OMIM:608328
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia, Wide nasal bridge	OMIM:618810
Alport Syndrome 3A, Autosomal Dominant	Lenticonus, Hypophosphatemia, Azotemia	OMIM:104200
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Pe...	OMIM:271665
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Fanconi Anemia, Complementation Group B	Hydrocephalus, Low-set ears, Coarctation of aorta, Patent ductus arteriosus, Ventricular septal d...	OMIM:300514
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypoplastic helices, Low-set ears, Macrotia, Coarctation of aorta, Tetralogy of Fallot, Patent du...	OMIM:600460
Sacral Defect With Anterior Meningocele	Myeloschisis, Anterior sacral meningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Myelom...	OMIM:600145
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Short nose, Anteverted nares, Low-set ears, High palate, Recurrent upper respiratory tract infect...	OMIM:614069
22Q11.2 Deletion Syndrome	Chronic otitis media, Abnormal aortic arch morphology, Small earlobe, Umbilical hernia, Optic atr...	ORPHA:567
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, High, narrow palate, Spina bifida occulta, Delayed eruption of teeth, Frontal boss...	ORPHA:2780
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Chromosome 8Q22.1 Duplication Syndrome	Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of...	OMIM:151200
Coffin-Siris Syndrome 6	Plagiocephaly, High, narrow palate, Short philtrum, Short stature, Frontal bossing, Cleft palate,...	OMIM:617808
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Combined Oxidative Phosphorylation Defect Type 39	Cerebral atrophy, Hypoplasia of the corpus callosum, Tip-toe gait, Decreased nerve conduction vel...	ORPHA:565624
Sclerosteosis 1	Optic atrophy, Sclerotic vertebral endplates, Broad clavicles, Facial palsy, Abnormal pelvic gird...	OMIM:269500
Specc1L-Related Hypertelorism Syndrome	Advanced eruption of teeth, Clinodactyly of the 5th finger, Finger syndactyly, Abnormal helix mor...	ORPHA:1519
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm...	ORPHA:536532
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Pectus excavatum, Kyphosis, Limited knee extension, Persistent...	OMIM:304150
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Protruding ear, Short nose, Intrauterine growth retardation	ORPHA:1495
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Pathologic fracture, Osteolysis, Abnormal clavicle morphology, Rickets...	ORPHA:249
Muenke Syndrome	Brachycephaly, Plagiocephaly, Cloverleaf skull, High palate, Short stature, Coronal craniosynosto...	OMIM:602849
Microphthalmia, Syndromic 2	Dextrocardia, Hypoplastic aortic arch, Sensorineural hearing impairment, Anteverted ears, Aortic ...	OMIM:300166
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypokalemia, Hypophosphatemia, Pigmentary retinopathy	ORPHA:411629
Congenital Rubella Syndrome	Sensorineural hearing impairment, Patent ductus arteriosus, Abnormality of the pulmonary artery, ...	ORPHA:290
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot	OMIM:618624
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metacarpal heads, Hip osteoarthritis, Flattened metatarsal heads, Osteoarthritis, Platy...	OMIM:271600
Fanconi Anemia	Abnormal femur morphology, Abnormal pinna morphology, Microcephaly, Hypogonadism, Umbilical herni...	ORPHA:84
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia	ORPHA:2089
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Femoral bowing, Short ribs, Short long bone, Absent tibia, Intestinal malrotation, Thoracic hypop...	OMIM:613091
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Sandal gap, Joint contracture of the 5th finger, 2-3 toe synda...	OMIM:618914
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Hypertension, Agenesis of c...	OMIM:619111
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Pulmonary hypoplasia	OMIM:619351
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Isotretinoin Syndrome	Cleft palate, Biparietal narrowing, Spina bifida occulta	ORPHA:2305
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Caudal appendage, Hypospadias, Mic...	ORPHA:314679
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low-set ears, Pulmonic stenosis, Patent ductus arteriosus, Double outlet right ventricle, Atrial ...	OMIM:618223
Adams-Oliver Syndrome 2	Hydrocephalus, Lateral ventricle dilatation	OMIM:614219
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Low-set ears, Posteriorly rotated ears	OMIM:616898
Gaucher Disease, Perinatal Lethal	Pulmonary hypoplasia	OMIM:608013
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp...	OMIM:262190
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Plagiocephaly, Short philtrum, Frontal bossing, Open mouth, Smooth philtrum, Intra...	OMIM:616801
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Protruding ear, Patent foramen ovale, Low-set ears, Umbilical hernia, Macrotia, Patent ductus art...	ORPHA:329224
Noonan Syndrome 9	Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect	OMIM:616559
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:83473
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Abnormal earlobe morphology, Accelerated skeletal maturation, La...	ORPHA:116
Rhizomelic Dysplasia, Ain-Naz Type	Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femoral head, Sho...	OMIM:619598
Hajdu-Cheney Syndrome	Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis, Aortic valve st...	ORPHA:955
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Polyhydramnios, Death in childhood, Omphalocele, Intestina...	OMIM:243150
Monosomy 18P	Brachycephaly, Short philtrum, Tooth malposition, Short stature, Carious teeth, Downturned corner...	ORPHA:1598
Pyruvate Dehydrogenase E1-Beta Deficiency	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ...	ORPHA:255138
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me...	OMIM:615812
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Hydrocephalus, Microtia, Posteriorly rotated ears, Intracranial hemorrha...	ORPHA:163979
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Thin ribs, Microcephaly, Agen...	OMIM:614833
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries...	OMIM:619472
Aymé-Gripp Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Microtia, ...	ORPHA:1272
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st...	OMIM:614823
Pfeiffer Syndrome	Short nose, Hydrocephalus, High palate, Choanal atresia, Choanal stenosis, Depressed nasal bridge	OMIM:101600
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation	OMIM:610015
Fanconi-Bickel Syndrome	Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala...	OMIM:227810
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, High palate, Low-set ears, Hearing impairment, Macrotia, Umbilical hernia, Macrogloss...	ORPHA:369891
Digeorge Syndrome	Right aortic arch with mirror image branching, Recurrent otitis media, Interrupted aortic arch, T...	OMIM:188400
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Joubert Syndrome 23	Dysplastic corpus callosum, Sensorineural hearing impairment, Polydactyly	OMIM:616490
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the corpus callosum, Inability to walk, Dandy-Walker malformation, Clubbing, Gait a...	OMIM:618606
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Low-set ears, Abnormal optic disc morphology, Hearing impairment, Patent duct...	OMIM:617516
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At...	OMIM:612561
Isolated Posterior Meningocele	Neural tube defect, Meningocele, Hydrocephalus, Lipomyelomeningocele, Occipital meningocele, Thor...	ORPHA:268810
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Cerebellar hypoplasia, Slender long bone, Scoliosis,...	OMIM:616202
Cartilage-Hair Hypoplasia	Breech presentation, Asymmetry of the thorax, Femoral bowing, Joint hypermobility, Aganglionic me...	OMIM:250250
Tarp Syndrome	Rocker bottom foot, Meckel diverticulum, Microtia, Glossoptosis, Pectus excavatum, Intrauterine g...	OMIM:311900
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation	ORPHA:284417
Lambotte Syndrome	Atresia of the external auditory canal, Macrotia, Semilobar holoprosencephaly, Ventricular septal...	OMIM:245552
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Bifid nasal tip, Thick nasal alae, Median cleft palate, Broad nasal t...	ORPHA:1827
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Low-set ears, Microcephaly, Posteriorly rotated ears, Simplified gyra...	OMIM:620001
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Biconcave vertebral bodies, Delayed skeleta...	OMIM:271510
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Dilated vestibule of the inner ear, Pectus excavatum, Abnormal ...	OMIM:611584
Joubert Syndrome 30	Molar tooth sign on MRI, Dandy-Walker malformation, Cerebellar atrophy, Postaxial hand polydactyl...	OMIM:617622
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Large earlobe, Ventricular septal defect, Hydrocephalus	OMIM:602501
Coffin-Lowry Syndrome	Pectus carinatum, Sensorineural hearing impairment, Pectus excavatum, Short metacarpal, Kyphosis,...	OMIM:303600
Hypophosphatasia	Abnormal metaphysis morphology, Narrow chest, Bowing of the long bones, Abnormal rib morphology, ...	ORPHA:436
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Cerebrooculonasal Syndrome	Tessier cleft, Brachycephaly, Widely spaced teeth, Solitary median maxillary central incisor, Hig...	ORPHA:66625
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Even-Plus Syndrome	Dysplastic corpus callosum, Microtia, Epiphyseal dysplasia, Agenesis of corpus callosum, Dysplasi...	OMIM:616854
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Saethre-Chotzen Syndrome	Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Abnormal pinna morpholog...	ORPHA:794
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Patent ductus arteriosus, Hydrocephalus, Sensorineural hearing impairment, Hypertrophic cardiomyo...	OMIM:612938
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly	OMIM:620200
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Tetralogy of Fallot, Communicating hydrocephalus, Patent ductu...	ORPHA:2184
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Abnormal vertebral morphology, Inguinal hernia, Abnormality of the vertebr...	ORPHA:2273
Geleophysic Dysplasia 1	Short long bone, Pectus excavatum, Wrist flexion contracture, Aortic valve stenosis, Joint stiffn...	OMIM:231050
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Craniofacioskeletal Syndrome	Interrupted aortic arch, Microtia, Posteriorly rotated ears, Patent ductus arteriosus, Atrial sep...	OMIM:300712
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Abnormal bone ossification, Abnormal diaphysis morphology, Generalized bone demineralization, Nar...	ORPHA:73230
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Hearing impairment, Depressed nasal bridge	OMIM:302950
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Heart murmur, Umbilical hernia, T...	ORPHA:217085
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Tracheobronchomalacia, Microtia, Pec...	OMIM:613458
Bresek Syndrome	Plagiocephaly, Aganglionic megacolon, Hydrocephalus, Growth delay, Cleft palate, Intrauterine gro...	ORPHA:85284
8Q12 Microduplication Syndrome	Abnormal cranial nerve morphology, Sensorineural hearing impairment, Atrial septal defect, Ventri...	ORPHA:228399
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Thick lower lip vermilion, High palate, Frontal bossing, Tented upper lip vermilion	OMIM:615828
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c	OMIM:609812
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Short philtrum, Prominent occiput, Downturned corners of mouth, Dol...	OMIM:618672
Gm1-Gangliosidosis, Type Ii	Optic atrophy, Beaking of vertebral bodies, Platyspondyly, Scoliosis, Protruding tongue, Joint st...	OMIM:230600
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Dandy-Walker malformation, Thoracic kyphosis, Low-set ears, Pectus ...	ORPHA:2752
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Holoprosencephaly,...	ORPHA:990
Peho-Like Syndrome	Short nose	OMIM:617507
Kapur-Toriello Syndrome	Low-set ears, Atresia of the external auditory canal, Tetralogy of Fallot, Posteriorly rotated ea...	ORPHA:2328
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel, Atresia of the external auditory canal, Shortening of all ...	OMIM:601356
Noonan Syndrome 8	Patent ductus arteriosus, Low-set ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left vent...	OMIM:615355
Transaldolase Deficiency	Patent foramen ovale, Low-set ears, Coarctation of aorta, Patent ductus arteriosus, Atrial septal...	OMIM:606003
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Abnormal palate morphology, Turricephaly, Hydrocephalus, Frontal bossing	ORPHA:93262
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal form of the vertebral bodi...	ORPHA:818
Biliary, Renal, Neurologic, And Skeletal Syndrome	Situs inversus totalis, Aqueductal stenosis, Atrioventricular canal defect, Inlet ventricular sep...	OMIM:619534
Pallister-Killian Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Aortic valve stenosis, Intestinal malrotation, B...	OMIM:601803
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macrotia, Patent foramen ovale, Transposition of the great arteries, Low-set ears	OMIM:616789
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop...	ORPHA:79113
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Morquio Syndrome C	Platyspondyly	OMIM:252300
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve...	OMIM:619343
Premature Aging Syndrome, Penttinen Type	Lipoatrophy, Sensorineural hearing impairment, Tibial bowing, Delayed skeletal maturation, Flexio...	OMIM:601812
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Thumb contracture, Agenesis o...	OMIM:307000
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Heart murmur, Umbilical hernia, T...	ORPHA:217093
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia	OMIM:614080
Rhombencephalosynapsis	Short nose, Aganglionic megacolon, Esophageal atresia, Low-set, posteriorly rotated ears, Hydroce...	ORPHA:59315
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Sensorineural hearing impairment, Patent foramen ovale, Low-set ears, Umbilical he...	OMIM:612582
Joubert Syndrome 22	Molar tooth sign on MRI, 2-3 toe syndactyly, Postaxial hand polydactyly, Agenesis of cerebellar v...	OMIM:615665
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Abnormal pinna morpho...	ORPHA:75389
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Widely spaced teeth, Microdontia, Premature loss of primary teeth, Frontal bossing	OMIM:617364
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Tetralogy of Fallot, Low-set, posteriorly rotated ears	ORPHA:3306
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Optic atrophy, Hyperactivity, Cerebral calcification, Hydrocephalus, ...	OMIM:617281
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Profound sensorineural hearing impairment, Absent internal auditory canal, Hypoplasia of the cochlea	OMIM:620469
Distal Duplication 18Q	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, High palate, Choanal atresia, Pr...	ORPHA:1716
Lethal Congenital Contracture Syndrome 5	Decreased nerve conduction velocity, Polyhydramnios, Thin ribs, Retinal hemorrhage, Congenital co...	OMIM:615368
Frank-Ter Haar Syndrome	Protruding ear, Patent foramen ovale, Low-set ears, Secundum atrial septal defect, Mitral valve p...	OMIM:249420
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Fused cervical vertebrae, Inguinal hernia, Thin ribs, Low-set ears, Cleft vertebr...	ORPHA:83617
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Mucolipidosis Type Ii	Sensorineural hearing impairment, Cardiomyopathy, Kyphosis, Umbilical hernia, Craniosynostosis, L...	ORPHA:576
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Hypospadias, Head-banging, Low-set ears, Frequent temper tantrums, Cr...	OMIM:619103
Craniofrontonasal Dysplasia	Brachycephaly, Orofacial cleft, Plagiocephaly, High palate, Abnormality of the dentition, Frontal...	ORPHA:1520
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Bradykinesia, Chorea, Dilated third ventricle, Abnormal periventricular white matter morphology, ...	OMIM:619725
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Atresia of the external auditory canal, Ventricular septal defect	OMIM:209770
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Transposition of the great arteries, Overfolded helix, Pulmonary artery stenosis, Conductive hear...	OMIM:280000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
Aspergillosis	Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal esophagus morphology...	ORPHA:1163
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Brachycephaly, Plagiocephaly, High palate, Short stature, Thin upper lip vermilion	OMIM:618862
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Short nose, Anteverted nares, Low-set ears, Intestinal malrotation, Lobar holoprosencephaly, Velo...	OMIM:614701
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Kyphoscoliosis, Congestive heart failure, Gastrointestinal hemorrhage, Osteopenia, Joint dislocat...	OMIM:225400
Koolen-De Vries Syndrome Due To A Point Mutation	Prominent fingertip pads, Microcephaly, Arachnodactyly, Anomaly of lower limb diaphyses, Ventricu...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Prominent fingertip pads, Microcephaly, Arachnodactyly, Anomaly of lower limb diaphyses, Ventricu...	ORPHA:363958
Autoimmune Hypoparathyroidism	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:36913
Joubert Syndrome 32	Molar tooth sign on MRI, Postaxial hand polydactyly, Hypertrophic cardiomyopathy, Abnormal cerebe...	OMIM:617757
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly, Anal atresia	ORPHA:93950
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ...	OMIM:609136
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate, Brachycephaly	OMIM:613456
Right Pulmonary Artery, Anomalous Origin Of, Familial	Anomalous origin of right pulmonary artery from ascending aorta, Patent foramen ovale, Coarctatio...	OMIM:610338
Vater/Vacterl Association	Occipital encephalocele, Hypoplasia of the radius, Preaxial polydactyly, Triphalangeal thumb, Sin...	OMIM:192350
Baker-Gordon Syndrome	Short nose, Prominent nasal tip	OMIM:618218
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:208500
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Umbilical hernia, Ventric...	OMIM:618651
Aica-Ribosiduria	Brachycephaly, Wide mouth, Thin upper lip vermilion	ORPHA:250977
Raine Syndrome	Hydrocephalus, Pulmonary hypoplasia	OMIM:259775
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short nose, High palate, Low-set ears, Anal atresia, Choanal atresia, Intest...	ORPHA:93260
Ollier Disease	Abnormal metaphysis morphology, Bone pain, Joint stiffness, Platyspondyly, Osteolysis	ORPHA:296
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Hydrocephalus, Sensorineural hearing impairment, Abnormal rect...	OMIM:239300
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Mohr-Tranebjaerg Syndrome	Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp...	ORPHA:52368
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Dental crowding, Downturned corners of mouth, Smooth philtrum, Long philtrum, Thin...	OMIM:615761
Lenz-Majewski Hyperostotic Dwarfism	Abnormal finger morphology, Kyphosis, Delayed skeletal maturation, Bifid uvula, Symphalangism aff...	ORPHA:2658
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Atelosteogenesis Type Ii	Pulmonary hypoplasia	ORPHA:56304
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperphosphatemia, Calcinosis, Hypercalcemia, Angioid streaks of the fundus	OMIM:211900
Mody	Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,...	ORPHA:552
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Cleft upper lip, Bifid uvula, Cleft palate	OMIM:300958
Alkaptonuria	Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ...	OMIM:203500
Acromicric Dysplasia	Anteverted nares, Short nose, Bulbous nose	ORPHA:969
Acrocardiofacial Syndrome	Truncus arteriosus, Low-set ears, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atr...	ORPHA:2008
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Low-set ears, Hearing impairment, Op...	ORPHA:52055
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hearing impairment, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616277
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Spina bifida occulta, Short stature, Cleft upper lip, Cleft palate	OMIM:268850
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Aplasia of the vagina, Hyperac...	ORPHA:457284
Muenke Syndrome	Brachycephaly, Plagiocephaly, High, narrow palate, Hydrocephalus, Coronal craniosynostosis	ORPHA:53271
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy...	ORPHA:91
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Flat occiput, Encephalocele, Long philtrum, Exencephaly	ORPHA:2211
Cerebrooculonasal Syndrome	Narrow palate, Short nose, Proboscis, Encephalocele, Hydrocephalus, Anteverted nares, High palate...	OMIM:605627
Chromosome 5Q12 Deletion Syndrome	Patent foramen ovale, Posteriorly rotated ears, Patent ductus arteriosus, Atrial septal defect, V...	OMIM:615668
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Short nose, Delayed eruption of teeth, Low hanging columella, Anteverted nares, Underd...	OMIM:615866
Fg Syndrome 5	Short nose, Anteverted nares, Depressed nasal bridge	OMIM:300581
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery hypoplasia	OMIM:620025
Osteogenesis Imperfecta, Type Vii	Breech presentation, Crumpled long bones, Pectus excavatum, Death in infancy, Multiple prenatal f...	OMIM:610682
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation	ORPHA:3078
Shprintzen Omphalocele Syndrome	Single umbilical artery, Narrow chest, Scoliosis, Kyphosis, Omphalocele, Anal atresia, Lumbar hyp...	OMIM:182210
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Autosomal Recessive Kenny-Caffey Syndrome	Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk...	ORPHA:93324
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Kyphoscoliotic Ehlers-Danlos Syndrome	Kyphoscoliosis, Pectus carinatum, Sensorineural hearing impairment, Pectus excavatum, Arachnodact...	ORPHA:536545
Orofaciodigital Syndrome Iii	Low-set ears, Pectus excavatum, Postaxial hand polydactyly, Kyphosis, Short sternum, Bifid uvula,...	OMIM:258850
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:617296
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Inguinal hernia, Pectus c...	OMIM:208050
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Thin vermilion border, Turricephaly, High palate, Short stature, Smooth philtrum, ...	OMIM:601853
Bruck Syndrome	Platyspondyly, Pterygium, Scoliosis, Bowing of the long bones, Kyphosis, Osteoporosis, Joint stif...	ORPHA:2771
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Platyspondyly, Pathologic fracture, Sensorineural hearing impairment, Scoliosis, Elbo...	OMIM:612394
Spondyloocular Syndrome	Osteopenia, Femur fracture, Duodenal ulcer, Vertebral compression fracture, Pectus carinatum, Sen...	OMIM:605822
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619244
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Fetal distress, Bell-shaped thorax, Inguinal hernia, Pulmonary arterial hypertension, Delayed ske...	OMIM:614857
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Abnormal aortic morphology, Patent ductus arteriosus	ORPHA:2001
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft, Frontal bossing, Dolichocephaly, Cleft palate, Median cleft ...	ORPHA:3374
2Q23.1 Microdeletion Syndrome	Brachycephaly, Everted lower lip vermilion, Short stature, Growth delay, Tented upper lip vermili...	ORPHA:228402
Trigonocephaly With Short Stature And Developmental Delay	Low-set ears, Ventricular septal defect, Posteriorly rotated ears	OMIM:314320
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Low-set ears, Pulmonic stenosis, Short sternum, Cleft p...	OMIM:257300
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Cofs Syndrome	Microphthalmia	ORPHA:1466
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Low-set ears, Tethered cord, Spina bifida, Downslanted palpebral fissure...	OMIM:619480
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Abnormal pinna morphology, Short ribs, Microtia, Short long bone, E...	OMIM:617925
Peroxisome Biogenesis Disorder 1A (Zellweger)	Pulmonary hypoplasia	OMIM:214100
Transketolase Deficiency	Patent foramen ovale, Hearing impairment, Abnormal coronary artery course, Abnormal heart morphol...	ORPHA:488618
Schimke Immunoosseous Dysplasia	Osteopenia, Lateral displacement of the femoral head, Thoracic kyphosis, Hypertension, Cerebral i...	OMIM:242900
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum, Cryptorchidism, Hypospadias	OMIM:620135
Emanuel Syndrome	Recurrent otitis media, Hydrocephalus, Truncus arteriosus, Low-set ears, Pulmonic stenosis, Aorti...	OMIM:609029
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect, Recurrent otitis media	OMIM:619995
Maternal Uniparental Disomy Of Chromosome 4	Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester...	ORPHA:96180
Monosomy 9P	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of the vertebral column...	ORPHA:261112
Renal-Hepatic-Pancreatic Dysplasia 1	Pulmonary hypoplasia	OMIM:208540
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Widely spaced teeth, Hydrocephalus, Trigonocephaly, Short stature, Cleft palate, S...	ORPHA:459061
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Wolcott-Rallison Syndrome	Double outlet right ventricle, Atrial septal defect	ORPHA:1667
Eiken Syndrome	Delayed ossification of carpal bones, Eruption failure, Flat acetabular roof, Broad metatarsal, M...	OMIM:600002
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod...	OMIM:194080
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Hydranencephaly, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Microcephaly...	OMIM:225790
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Short philtrum, High palate, Everted lower lip vermilion, Tented upper lip vermili...	OMIM:616579
Autosomal Recessive Spastic Paraplegia Type 11	Hypoplasia of the corpus callosum, Orthostatic hypotension, Focal T2 hyperintense basal ganglia l...	ORPHA:2822
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Premature ovarian insufficiency, Hypospadias, Endometriosis, Camptoda...	ORPHA:363444
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions, Sensorineural hearing impairment, Hearing...	ORPHA:557003
Dextrocardia	Hydrocephalus, Meckel diverticulum, Aplasia/Hypoplasia of the ear, Abnormal rib morphology, Conge...	ORPHA:1666
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Transposition of the great arteries, Encephalocele, Hydrocephalus, Pulmonic stenos...	OMIM:253800
Cystinosis, Nephropathic	Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circulating carniti...	OMIM:219800
Okamoto Syndrome	Polydactyly, Anal stenosis, Abnormal helix morphology, Scoliosis, Low-set ears, Exaggerated media...	ORPHA:2729
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Mixed hearing impairment, Scoliosis, Femoral bowing, Osteoporosis, Platyspondyly, Rec...	OMIM:126550
Al Kaissi Syndrome	Postnatal growth retardation, Brachycephaly, High, narrow palate, Intrauterine growth retardation...	OMIM:617694
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Microtia, Hearing impairment, Atresia of the external auditory canal, Coarctation ...	ORPHA:268249
Hunter-Macdonald Syndrome	Clinodactyly of the 5th finger, Aortic regurgitation, Cubitus valgus, Inguinal hernia, Pectus car...	OMIM:611962
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
16P13.11 Microdeletion Syndrome	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Atresia of the exte...	ORPHA:261236
Williams-Beuren Region Duplication Syndrome	Brachycephaly, Short philtrum, Hydrocephalus, High palate, Short stature, Diastema	OMIM:609757
Noonan Syndrome 10	Patent ductus arteriosus, Low-set ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctati...	OMIM:616564
Rhizomelic Dysplasia, Patterson-Lowry Type	Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus, Brachydacty...	OMIM:601438
Dermotrichic Syndrome	Macrotia, Short nose, Aganglionic megacolon, Depressed nasal bridge	ORPHA:99688
Ververi-Brady Syndrome	Macrotia, Transposition of the great arteries, Low-set ears, Cupped ear	OMIM:617982
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Limited elbow extension, Recurrent otitis media, Genu valgum, Broad long bone diaphyses, Hyperlor...	OMIM:301066
Cat Eye Syndrome	Tricuspid atresia, Stenosis of the external auditory canal, Low-set ears, Total anomalous pulmona...	OMIM:115470
Czech Dysplasia	Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi...	OMIM:609162
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Dental crowding, Narrow mouth, High palate, Frontal bossing, Long philtrum	OMIM:615539
Müllerian Aplasia And Hyperandrogenism	Primary amenorrhea, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Chromosome 18Q Deletion Syndrome	Optic atrophy, Dysplastic pulmonary valve, Sensorineural hearing impairment, Ascending tubular ao...	OMIM:601808
Pyknoachondrogenesis	Short iliac bones, Craniofacial hyperostosis, Short thorax, Abnormal iliac wing morphology, Enlar...	ORPHA:3003
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Abnormal earlobe morphology, Pulm...	ORPHA:141127
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Sensorineural hearing impairme...	ORPHA:1458
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip	OMIM:137550
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly, Thick vermilion border	OMIM:619927
Lessel-Kreienkamp Syndrome	Plagiocephaly, Frontal bossing, Open mouth, Dental malocclusion, Thin upper lip vermilion, Scapho...	OMIM:619149
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Microtia, Bilateral sensorineural hearing impairment, Conotruncal ...	ORPHA:40366
Atrial Septal Defect 1	Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ...	OMIM:108800
Sillence Syndrome	Large iliac wing, Flat acetabular roof, Broad metatarsal, Broad thumb, Abnormal morphology of the...	ORPHA:3168
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Pulmonary hypoplasia, Umbilical hernia	OMIM:308050
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Brachycephaly	OMIM:309541
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Intestinal malrotation, Crowd...	OMIM:102500
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Platyspondyly, Delayed eruption of teeth, Pectus carinatum...	ORPHA:1855
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Desmosterolosis	Abnormality of the nose, Short nose, Abnormal earlobe morphology, Low-set, posteriorly rotated ea...	ORPHA:35107
Incontinentia Pigmenti	Congestive heart failure, Hearing abnormality, Spina bifida occulta, Delayed eruption of teeth, F...	ORPHA:464
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Atelectasis, Hydranencephaly, Hydrocephalus, Pulmonary artery atresia, Pulmonary hypoplasia	OMIM:620371
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Stereotypical hand wringing, Micro...	OMIM:619179
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Vertebral segmentation defect, Abnormal ear morphology, He...	ORPHA:3109
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Plagiocephaly	OMIM:615516
Cerebrocostomandibular Syndrome	Anomalous rib insertion to vertebrae, Glossoptosis, Short humerus, Thoracic hypoplasia, 10 pairs ...	OMIM:117650
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Limited elbow movement, Thin ribs, Osteolytic defects of the distal phalanges of the...	OMIM:614008
Kury-Isidor Syndrome	Brachycephaly, Widely spaced teeth, Triangular mouth, High palate, Growth delay, Frontal bossing,...	OMIM:619762
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin vermilion border, Plagiocephaly, Short philtrum, Spina bifida occulta, Prominent occiput, Sh...	OMIM:617360
Contractural Arachnodactyly, Congenital	Aortic root aneurysm, Crumpled ear, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aor...	OMIM:121050
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Macrotia, Short nose, Bulbous nose, Wide nasal bridge	OMIM:620292
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Rhizomelic Limb Shortening With Dysmorphic Features	Long philtrum, Plagiocephaly, Rhizomelia, Smooth philtrum	OMIM:618821
Adult Krabbe Disease	Abnormal midbrain morphology, Delayed brainstem auditory evoked response conduction time, Abnorma...	ORPHA:206448
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin corpus callosum, Clinodactyly of the 5th finger, Hyperactivity, Sensorineural hearing impair...	OMIM:620075
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, 2-4 toe cutaneous syndactyly, Hypoplasia of the corpus callosum, Shor...	OMIM:618569
Acrofrontofacionasal Dysostosis	Brachycephaly, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Shor...	ORPHA:1784
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Esophageal atresia, Anteverted nares, Low-set ears, Choana...	OMIM:619859
Lambert Syndrome	Branchial anomaly, Ventricular septal defect	ORPHA:1296
Oculocerebrofacial Syndrome, Kaufman Type	Brachycephaly, Thin vermilion border, High, narrow palate, Short philtrum, Microdontia, Growth de...	ORPHA:2707
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft palate, Anencephaly, Cleft upper lip	OMIM:611561
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Decrease...	ORPHA:90796
Aase-Smith Syndrome I	Hydrocephalus, Abnormal pinna morphology, Ventricular septal defect	OMIM:147800
Craniotubular Dysplasia, Ikegawa Type	Optic atrophy, Diaphyseal dysplasia, Optic nerve compression, Increased intervertebral space, Opt...	OMIM:619727
Ablepharon Macrostomia Syndrome	Microtia, Omphalocele, Hearing impairment, Atresia of the external auditory canal, Camptodactyly ...	ORPHA:920
Feingold Syndrome 1	Tricuspid atresia, Interrupted aortic arch, Low-set ears, Tricuspid stenosis, Hearing impairment,...	OMIM:164280
Osteogenesis Imperfecta, Type Xx	Narrow palate, Brachycephaly, Plagiocephaly, Disproportionate short-limb short stature, High pala...	OMIM:618644
Frontonasal Dysplasia 2	Brachycephaly, Widely spaced teeth, Encephalocele, Conical tooth, Parietal foramina, Tessier numb...	OMIM:613451
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Downturned corners of mouth, Thin upper lip vermilion	ORPHA:352530
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Low-set ears, Optic disc pallor, Hearing impair...	OMIM:619268
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Long philtrum, Thick lower lip vermilion, Cranial asymmetry, Thin upper lip vermilion	ORPHA:137634
Chylomicron Retention Disease	Steatorrhea, Hypocholesterolemia	ORPHA:71
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Short greater sciatic notch, Mecke...	OMIM:312870
Dental Anomalies And Short Stature	Amelogenesis imperfecta, Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicul...	OMIM:601216
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Camptobrachydactyly	Septate vagina	OMIM:114150
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Kyph...	ORPHA:508533
Marshall Syndrome	Small distal femoral epiphysis, Small proximal tibial epiphyses, Recurrent otitis media, Clinodac...	OMIM:154780
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Amenorrhea, Hypoplasia of the uterus, Irregu...	OMIM:110100
Familial Bicuspid Aortic Valve	Abnormal left ventricular outflow tract morphology, Aortic arch aneurysm, Aortic valve stenosis, ...	ORPHA:402075
Pentasomy X	Delayed puberty, Plagiocephaly, Short stature	ORPHA:11
Hall-Riggs Syndrome	Abnormal metaphysis morphology, Platyspondyly, Delayed eruption of teeth, Abnormal dental enamel ...	ORPHA:2107
Chondrodysplasia With Joint Dislocations, Gpapp Type	Hearing impairment, Short nose, Cleft palate, Wide nasal bridge	OMIM:614078
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs, Intestinal lymphangiectasia	OMIM:152800
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, Hydrocephalus, High palate, Low-set ears, Posteriorly rotated ears, Depres...	OMIM:618590
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Flat occiput, Unilateral cleft lip, Severe short stature, Brachycephaly	ORPHA:2511
Larsen-Like Syndrome	Brachycephaly, Short stature, Frontal bossing, Cleft palate, Dental malocclusion	OMIM:608545
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Alkuraya-Kucinskas Syndrome	Short nose, Hydrocephalus, Anteverted nares, High palate, Low-set ears, Posteriorly rotated ears,...	OMIM:617822
Dent Disease 1	Hypophosphatemia	OMIM:300009
Intellectual Developmental Disorder, Autosomal Dominant 58	Plagiocephaly, Dental crowding, High palate, Protruding tongue, Short stature, Wide mouth, Thick ...	OMIM:618106
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Abnormal femoral head morphology, Hypertension, Transi...	ORPHA:1830
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine growth retardation, Short nose, Low-set ears, Depressed nasal bridge	OMIM:614732
Diamond-Blackfan Anemia 7	Recurrent otitis media, Hearing impairment, Atresia of the external auditory canal, Secundum atri...	OMIM:612562
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas...	OMIM:184705
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Mucoid extracellular matrix accumulation, Dilatation of the cerebral artery, Car...	ORPHA:91387
Tarp Syndrome	Pulmonary hypoplasia	ORPHA:2886
Pseudo-Torch Syndrome 2	Ventriculomegaly, Lateral ventricle dilatation	OMIM:617397
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Difficulty walking, Athetosis, Low-set ears, Cerebral white matter hypoplasia, ...	ORPHA:572798
Lujan-Fryns Syndrome	Brachycephaly, Short philtrum, Dental crowding, High palate, Abnormality of the dentition	ORPHA:776
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Hearing impairment, Prominent nasal bridge, Bulbous nose, Thickened helices, Depresse...	OMIM:618828
Distal Deletion 9P	Short nose, High, narrow palate, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ear...	ORPHA:1642
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Dental crowding, High palate, Coronal ...	OMIM:123500
Cleidocranial Dysplasia 1	Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p...	OMIM:119600
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Sensorineural hearing impairment, Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot...	OMIM:618748
Developmental And Epileptic Encephalopathy 65	Plagiocephaly, Tented upper lip vermilion	OMIM:618008
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation	OMIM:614105
Houge-Janssens Syndrome 3	Plagiocephaly, Short philtrum, High palate, Frontal bossing, Umbilical hernia	OMIM:618354
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Biparietal narrowing, Short stature, Frontal bossing, Wide mouth, Umbilical hernia...	ORPHA:1292
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the vagina, Aplasia of the uterus, Uterus didelphys, Primary amenorrhea, Septate vagina	OMIM:146255
Timothy Syndrome	Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se...	OMIM:601005
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia, Molar tooth sign on MRI	OMIM:619582
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Low-set, posteriorly rotated ears	ORPHA:3369
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Lathosterolosis	Short nose, Meningocele, Anteverted nares, High palate, Hearing impairment, Intrauterine growth r...	ORPHA:46059
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Clinodactyly of the 5th finger, Inability to walk, Hypospadias, Clubbing of fingers, Small earlob...	OMIM:620083
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate	OMIM:615042
Temtamy Preaxial Brachydactyly Syndrome	Plagiocephaly, Talon cusp, Microdontia, Cleft palate, Diastema, Deep philtrum	OMIM:605282
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Hearing impairment, Coarctation of aorta, Tetralogy of Fallot, Conotruncal...	ORPHA:96147
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Proximal placement of thumb, Dislocated radial head, Sensorineur...	OMIM:122470
Kenny-Caffey Syndrome, Type 1	Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased...	OMIM:244460
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hyperactivity, Bifid scrotum, Microcephaly, Colpocephaly, Small scro...	OMIM:270400
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Waardenburg Syndrome	Intestinal obstruction, Aganglionic megacolon, Aplasia/Hypoplasia of the colon, Myelomeningocele,...	ORPHA:3440
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Hypoplastic aortic arch, Spina bifida occulta, Optic nerve hypopla...	ORPHA:508488
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal temper tantrums, Cavum septum pellucidum, Abnormal corpus callosum morphology, Low-set e...	ORPHA:457279
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Atrial septal defect, Patent ductus arteriosus, Cardiomegaly, Abnormal hea...	ORPHA:363705
Lowry-Wood Syndrome	Irregular epiphyses, Platyspondyly, Dislocated radial head, Coxa vara, Epiphyseal dysplasia, Join...	ORPHA:1824
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Low-set ears, High pala...	OMIM:619383
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Limited elbow movement, Pectus excavatum, Hypoplasia of the antiheli...	ORPHA:221120
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Inguinal hernia, Low-set ears, Postaxial hand polydactyly, Hamartoma of ...	OMIM:617563
Periventricular Nodular Heterotopia 7	Sensorineural hearing impairment, Anteverted nares, Cleft palate, Short nose	OMIM:617201
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Aganglionic megacolon, Anal stenosis, Anal atresia, Growth delay, Anterior plagioc...	OMIM:614749
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Macrotia, Prominent nasal bridge, Posteriorly rotated ears, Intrauterine growth retar...	ORPHA:2083
Tetrasomy 12P	Short nose, Delayed eruption of teeth, Abnormal soft palate morphology, Anteverted nares, Anal at...	ORPHA:884
Fetal Hydantoin Syndrome	Short nose, Low-set, posteriorly rotated ears, Abnormal pinna morphology, Depressed nasal ridge, ...	ORPHA:1912
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly	OMIM:618725
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Hypoplasia of the corpus callosum, Secondary microcephaly, Clinodactyly of the 5th toe, Clinodact...	OMIM:620113
Foxp1 Syndrome	Short nose, Hypoplastic helices, Recurrent otitis media, Broad nasal tip, Recurrent upper respira...	ORPHA:391372
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Optic atrophy, Sensorineural hearing impairment, Low-set ears, Bilateral sensorineural hearing im...	OMIM:220500
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Short nose, Intestinal polyposis, Depressed nasal bridge	ORPHA:210548
Joubert Syndrome 28	Joint hypermobility, Molar tooth sign on MRI, Optic disc pallor	OMIM:617121
3P25.3 Microdeletion Syndrome	Coronary artery atherosclerosis, Sensorineural hearing impairment, Abnormality of the outer ear, ...	ORPHA:435638
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Short stature, Frontal bossing, Dolichocephaly, Long philtrum	OMIM:619721
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Aganglionic megacolon, Aortic valve steno...	ORPHA:210122
Atelis Syndrome 1	Microtia, Atrial septal defect, Ventricular septal defect, Glue ear	OMIM:620184
Camptobrachydactyly	Septate vagina	ORPHA:1319
Phakomatosis Pigmentokeratotica	Coloboma, Spina bifida	ORPHA:2874
Radio-Renal Syndrome	Hypoplasia of the radius, High, narrow palate, Abnormal form of the vertebral bodies, Abnormal ri...	ORPHA:3015
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Myotubular Myopathy With Abnormal Genital Development	Polyhydramnios, Thin ribs, High palate, Death in infancy, Neonatal death, Decreased fetal movemen...	OMIM:300219
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect	OMIM:616589
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia	OMIM:617063
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Kyphosis, Death in infancy, Joint stiffness, Umbilical hernia, Abnormal epi...	ORPHA:534
Osteogenesis Imperfecta, Type Xvii	Kyphoscoliosis, Hearing abnormality, Reduced bone mineral density, Thin metacarpal cortices, Vert...	OMIM:616507
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Desmosterolosis	Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Cleft palate, Posteriorly rotated ears...	OMIM:602398
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Narrow palate, Plagiocephaly	OMIM:617481
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Flat occiput, High palate, Intrauterine growth retardation, Short stature, Long ph...	OMIM:617452
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Chromosome 3Q29 Duplication Syndrome	Short nose, Bulbous nose, Wide nasal bridge	OMIM:611936
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Contracture of the proximal interphalangeal joint of the 3rd finger, Lateral ventri...	ORPHA:464738
Fucosidosis	Beaking of vertebral bodies, Anterior beaking of thoracic vertebrae, Anterior beaking of lumbar v...	OMIM:230000
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Joubert Syndrome 4	Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Thickened superior cerebellar peduncle, El...	OMIM:609583
Cog5-Cdg	Genu valgum, Sensorineural hearing impairment, Cerebral white matter atrophy, Truncal ataxia, Low...	ORPHA:263487
Fontaine Progeroid Syndrome	Death in infancy, Delayed skeletal maturation, Syndactyly, Umbilical hernia, Short distal phalanx...	OMIM:612289
Arima Syndrome	Optic atrophy, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Hypertension, Postaxial han...	OMIM:243910
Faciocardiorenal Syndrome	Plagiocephaly, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia	ORPHA:1973
Cdags Syndrome	Rectourethral fistula, Brachycephaly, Lambdoidal craniosynostosis, Rectovaginal fistula, Parietal...	OMIM:603116
Gracile Bone Dysplasia	Slender long bone, Hydrocephalus, Flared metaphysis, Thin ribs, Decreased skull ossification, Ank...	OMIM:602361
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Molar tooth sign on MRI, Low-set, posteriorly rotated ears, Mesoaxial polyd...	ORPHA:2754
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity, Abnormal pons...	ORPHA:99646
Non-Distal Duplication 13Q	Aplasia/Hypoplasia of the earlobes, Short nose, High palate, Abnormal antihelix morphology	ORPHA:1702
Mosaic Variegated Aneuploidy Syndrome 2	Low-set ears, Round ear, Hearing impairment, Coarctation of aorta, Atrial septal defect, Ventricu...	OMIM:614114
Geroderma Osteodysplasticum	Kyphoscoliosis, Beaking of vertebral bodies, Osteopenia, Vertebral compression fracture, Hyperext...	OMIM:231070
Phocomelia, Schinzel Type	Aplasia/Hypoplasia of the sacrum, Hypoplasia of the radius, Fibular aplasia, Abnormal tibia morph...	ORPHA:2879
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Single umbilical artery, Thin ribs, Short ribs, Abnorm...	ORPHA:3404
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect, Aganglionic megacolon	OMIM:235750
Recombinant 8 Syndrome	Chronic otitis media, Abnormality of the outer ear, Low-set ears, Pulmonary artery stenosis, Hear...	ORPHA:96167
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Delayed eruption of permanent teeth, Short nose, Anteverted nares	OMIM:619356
Catel-Manzke Syndrome	Pectus carinatum, Glossoptosis, Pectus excavatum, Short metacarpal, Ulnar deviation of the 2nd fi...	OMIM:616145
Joubert Syndrome 20	Postaxial polydactyly, Molar tooth sign on MRI, 4-5 toe syndactyly	OMIM:614970
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Exaggerated cupid's bow, Narrow mouth, Everted lower lip vermilion, Frontal bossin...	OMIM:619720
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele...	ORPHA:93322
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Holt-Oram Syndrome	Proximal placement of thumb, Cervical C2/C3 vertebral fusion, Pectus excavatum, Aplasia of the 1s...	OMIM:142900
Bladder Exstrophy	Inguinal hernia, Abnormality of the anus, Omphalocele, Umbilical hernia, Intestinal malrotation, ...	ORPHA:93930
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	OMIM:140000
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Sensorineural hearing impairment, Low-set ears, Optic disc coloboma, Pa...	OMIM:300472
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Frontal bossing, Downturned corners of mouth, Tented upper lip verm...	OMIM:618430
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Abnormal oral frenulum morphology, Intestinal malrotation, Downturned corners of m...	ORPHA:404440
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis o...	OMIM:617260
Loeys-Dietz Syndrome 2	Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Descending ao...	OMIM:610168
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Macrotia, Short nose, High palate, Wide nasal bridge	OMIM:218000
Diffuse Neonatal Hemangiomatosis	Abnormal vagina morphology	ORPHA:2123
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Interrupted aortic arch, Abnormal aortic morphology, Aortic valve steno...	ORPHA:2396
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Jansen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Posteriorly rotated ears, Low-set ears	OMIM:617450
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Stickler Syndrome	Chronic otitis media, Reduced bone mineral density, Spondylolisthesis, Abnormal form of the verte...	ORPHA:828
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Microtia, Duodenal stenosis	ORPHA:2547
Joubert Syndrome 39	Occipital encephalocele, Molar tooth sign on MRI, Joint contracture of the 5th finger, Cerebellar...	OMIM:619562
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ascending tubular aorta aneurysm, Low-set ears, Atrial septal defect, Ventricular septal defect, ...	OMIM:309520
Ear-Patella-Short Stature Syndrome	Delayed skeletal maturation, Bifid uvula, Joint hypermobility, Intrauterine growth retardation, A...	ORPHA:2554
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Turricephaly, Short philtrum, High palate, Frontal bossing, Downturned corners of ...	OMIM:613174
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Rhombencephalosynapsis, Low-set ears, Dila...	OMIM:619306
Desanto-Shinawi Syndrome	Brachycephaly, Downturned corners of mouth, Thin upper lip vermilion	OMIM:616708
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Profound sensorineural hearing impairment, Microtia, first degree, Anteverted ears, Aplasia of th...	OMIM:610706
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Patent ductus arteriosus	OMIM:617021
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Trisomy 12P	Short nose, Abnormal antihelix morphology, Low-set ears, Anal atresia, Cleft palate, Wide nasal b...	ORPHA:1699
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fastin...	ORPHA:2298
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Agitation, Polyphagia, Cerebral cortical atrophy, Lewy bodies, Disinhibition, Neurofibrillary tan...	OMIM:607485
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Abnormal palate morphology, Plagiocephaly, Abnormal dental enamel morphology, Ecto...	ORPHA:85199
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Seckel Syndrome 9	Protruding ear, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia	OMIM:616777
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Interrupted aortic arch, Sensorineural hearing impairment, Patent foramen ovale, Hypertrophic car...	ORPHA:17
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Short nose, Hydrocephalus, Low-set ears, Cleft palate, Depressed nasal bridge	ORPHA:1812
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventricular septal defect, Vascular dilatation	OMIM:219730
Penile Agenesis	Pulmonary hypoplasia, Bilateral lung agenesis	ORPHA:49
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Pearson Syndrome	Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Pigmentary retinopathy	ORPHA:699
Momo Syndrome	Delayed eruption of teeth, High palate, Short sternum, Delayed skeletal maturation, Underfolded h...	OMIM:157980
Joubert Syndrome 33	Molar tooth sign on MRI, Syndactyly	OMIM:617767
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Short philtrum, Short stature, Frontal bossing, Tented upper lip vermilion, Smooth...	ORPHA:371364
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Optic nerve compress...	ORPHA:667
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Umbilical hernia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:619769
Distal Deletion 3P	Brachycephaly, Thin vermilion border, High palate, Short stature, Downturned corners of mouth, Cl...	ORPHA:1620
Turnpenny-Fry Syndrome	Pectus carinatum, Microtia, Thoracic kyphoscoliosis, Pectus excavatum, Delayed skeletal maturatio...	OMIM:618371
Xylt1-Cdg	Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Accelerated ...	ORPHA:370930
Smith-Magenis Syndrome	Brachycephaly, Orofacial cleft, Everted upper lip vermilion, Abnormality of the dentition, Short ...	OMIM:182290
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Steatorrhea, Enlargement of the costochondral junction, Metaphyseal...	OMIM:260400
Char Syndrome	Hearing impairment, Ventricular septal defect, Patent ductus arteriosus	ORPHA:46627
Joubert Syndrome 25	Cerebellar hypoplasia, Molar tooth sign on MRI	OMIM:616781
Leukodystrophy, Hypomyelinating, 10	Short nose, Anteverted nares, Low-set ears, Hearing impairment, Hypoplasia of the antihelix, Bulb...	OMIM:616420
Primary Fanconi Renotubular Syndrome	Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat...	ORPHA:3337
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Narrow mouth, Short stature, Frontal bossing, Umbilical hernia, Intrauterine growt...	OMIM:219150
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Low-set ears, Protruding tongue, Macroglossia, Depressed nasal bridge	OMIM:242860
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Rocker bottom foot, Camptodactyly, Dysplastic corpus callosum	OMIM:604273
Suleiman-El-Hattab Syndrome	Patent foramen ovale, Low-set ears, Hearing impairment, Protruding ear, Atrial septal defect, Ven...	OMIM:618950
Coffin-Siris Syndrome 7	Recurrent otitis media, Patent foramen ovale, Low-set ears, Hearing impairment, Macrotia, Posteri...	OMIM:618027
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short nose, Aganglionic megacolon, Hydrocephalus, Microtia, Low-set ears, Wide nasal bridge, Shor...	OMIM:613603
Acrodysostosis 2 With Or Without Hormone Resistance	Intrauterine growth retardation, Anteverted nares, Short nose, Depressed nasal bridge	OMIM:614613
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly, Tented upper lip vermilion, Smooth philtrum	OMIM:620240
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Flat occiput, High palate, Intrauterine growth retardation, Short stature, Long ph...	ORPHA:505237
Robinow Syndrome, Autosomal Dominant 2	Short nose, Mixed hearing impairment, Cleft soft palate, Sensorineural hearing impairment, Anteve...	OMIM:616331
16P12.1P12.3 Triplication Syndrome	Short nose, High, narrow palate, Low-set ears, Large earlobe, Bulbous nose, Intrauterine growth r...	ORPHA:485405
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Joint sti...	ORPHA:1300
Paget Disease Of Bone 2, Early-Onset	Increased susceptibility to fractures, Vertebral compression fracture, Sandwich appearance of ver...	OMIM:602080
Peho Syndrome	Short nose, Hydrocephalus, Anteverted nares, Abnormal pinna morphology, Macrotia	ORPHA:2836
Ritscher-Schinzel Syndrome 4	Narrow palate, Brachycephaly, Plagiocephaly, Short philtrum, High palate, Short stature, Wide mou...	OMIM:619435
Joubert Syndrome 27	Polydactyly, Molar tooth sign on MRI	OMIM:617120
16P11.2P12.2 Microdeletion Syndrome	Chronic otitis media, Long nose, Short nose, Anteverted nares, Abnormal pinna morphology, Low-set...	ORPHA:261211
Frontofacionasal Dysplasia	Short nose, Midline defect of the nose, Bifid uvula, Bifid nose, Cranium bifidum occultum, Underd...	OMIM:229400
Japanese Encephalitis	Stiff neck, Genu recurvatum, Elbow flexion contracture, Facial palsy, Abnormal midbrain morpholog...	ORPHA:79139
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Bilateral conductive hearing impairment, Low-set ears, Volvulus, Natal tooth, Depress...	OMIM:617802
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Scoliosis, Broad metacarpals, Broad metatarsal, Pulmo...	OMIM:277600
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Thick lower lip vermilion, Abnormality of the dentition, Anal atres...	ORPHA:261652
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Autosomal Dominant Hypocalcemia	Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia	ORPHA:428
Delpire-Mcneill Syndrome	Ventricular septal defect, Bilateral sensorineural hearing impairment	OMIM:619083
Ohdo Syndrome	Short nose, Anteverted nares, Microtia, Hearing impairment, Wide nasal bridge, Depressed nasal br...	OMIM:249620
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Polyhydramnios, Aortic regurgitation, Abnormal brainstem morphology, S...	ORPHA:464311
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Short philtrum, High palate, Growth delay, Smooth philtrum, Thin upper lip vermilion	OMIM:619188
X Small Rings	Protruding ear, Aortic root aneurysm, Mitral stenosis, Bicuspid aortic valve, Ventricular septal ...	ORPHA:96201
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Anteverted nares, Microtia, Low-set ears, Choanal atresia, Atresi...	OMIM:610536
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Pulmonary hypoplasia, Bilateral lung agenesis	ORPHA:2753
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Recurrent otitis media, Aortic root aneurysm, Ventricular hypertrophy, Underdeveloped tragus, Low...	OMIM:620654
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Short stature, Holoprosencephaly, Craniosynostosis	ORPHA:2163
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Abnormal antihelix morphology, Protruding ear, Macroglossia, Bulbous nose, Depressed ...	ORPHA:261144
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus	ORPHA:452
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Narrow mouth, Trigonocephaly, Bifid uvula, Cleft palate, Craniosynostosis, Aplasia...	ORPHA:1790
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Oligodontia, Abnormality of the dentition, Short stature, Coronal craniosynostosis...	ORPHA:2095
Persistent Hyperplastic Primary Vitreous	Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachment, Hyaloid vas...	ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Laurence-Moon Syndrome	Short stature, Brachycephaly	ORPHA:2377
Ablepharon-Macrostomia Syndrome	Single umbilical artery, Clinodactyly of the 5th finger, Absent lanugo, Ventral hernia, Microtia,...	OMIM:200110
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Duodenal ulcer, Sandal gap, Dislocated radial head, Abnormal pin...	OMIM:135900
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Ventricular septal ...	OMIM:614576
Exstrophy-Epispadias Complex	Cloacal exstrophy, Anal stenosis, Inguinal hernia, Hydrocephalus, Anal atresia, Omphalocele, Spin...	ORPHA:322
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Wide nose, Depressed nasal ridge	ORPHA:2831
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Esophageal atresia, Anal atresia, Omphalocele, Cleft palate	ORPHA:95706
Momo Syndrome	Brachycephaly, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Short stature, ...	ORPHA:2563
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Type I diabetes mellitus, Hyperglycemia	OMIM:618857
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Intestinal malrotation, Short stature, Downturned corners of mouth, Cleft palate, ...	ORPHA:457193
Ellis-Van Creveld Syndrome	Genu valgum, Narrow chest, Delayed eruption of teeth, Pectus carinatum, Hypoplastic iliac wing, S...	OMIM:225500
Cardiomyopathy, Dilated, 1S	Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter...	OMIM:613426
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Intellectual Developmental Disorder, X-Linked 21	Short nose, Uplifted earlobe	OMIM:300143
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Chops Syndrome	Optic atrophy, High, narrow palate, Cervical C2/C3 vertebral fusion, Tracheomalacia, Hearing impa...	OMIM:616368
Summitt Syndrome	Plagiocephaly, Craniosynostosis	ORPHA:3210
Toriello-Carey Syndrome	Aganglionic megacolon, Abnormal pinna morphology, Cardiomyopathy, Low-set ears, Pulmonic stenosis...	ORPHA:3338
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Widely spaced teeth, Short philtrum, Exaggerated cupid's bow, Microdontia, Enamel ...	OMIM:619293
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Inguinal hernia, Scoliosis, Pectus excavatum, Tricuspid regurgitation, Campt...	ORPHA:1101
Marshall Syndrome	Brachycephaly, Thick lower lip vermilion, High palate, Abnormality of the dentition, Short statur...	ORPHA:560
Interstitial Cystitis	Abnormal labia morphology, Dyspareunia, Abnormality of the menstrual cycle, Abnormal vagina morph...	ORPHA:37202
Intellectual Disability-Strabismus Syndrome	Short nose, Recurrent otitis media, Narrow nasal ridge, High palate, Low-set ears, Prominent nose...	ORPHA:363528
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Mixed hearing impairment, Cervical C2/C3 vertebral fusion, Sensorineural hearing impairment, Glos...	ORPHA:444077
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Wide mouth	OMIM:616083
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Patent foramen ovale, Low-set ears, Hearing impairment, Right ventricular hypertro...	OMIM:614261
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Pericardial effusion, Papilledema, Persistent left superior vena cav...	OMIM:618775
Noonan Syndrome 2	Abnormal coronary artery origin, Atrioventricular canal defect, Patent foramen ovale, Cardiomyopa...	OMIM:605275
Desbuquois Syndrome	Ventricular septal defect, Low-set, posteriorly rotated ears	ORPHA:1425
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Short stature, Downturned corners of mouth, Cleft palate, Long philtrum, U-Shaped ...	OMIM:301041
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Smith-Magenis Syndrome	Delayed puberty, Brachycephaly, Short philtrum, Short stature, Cleft upper lip, Frontal bossing, ...	ORPHA:819
Loeys-Dietz Syndrome 1	Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Pectus excavatum, Arachnodactyl...	OMIM:609192
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Coronary artery fistula, Low-set ears, Posteriorly rotated ears, Ventricular septal...	OMIM:614294
Cranioectodermal Dysplasia 2	Short ribs, Hypertension, Pectus excavatum, Syndactyly, Joint hypermobility, Craniosynostosis, Cl...	OMIM:613610
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal brainstem morphology	ORPHA:411493
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Holoprosencephaly 9	Short nose, Single naris, Alobar holoprosencephaly, Short hard palate, Bilateral cleft palate, Hy...	OMIM:610829
16Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Chronic otitis media, Proximal placement of thumb, Optic nerve...	ORPHA:261250
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Branchial anomaly, Ascending tubular aorta aneurysm, Abnormal heli...	ORPHA:453499
Baller-Gerold Syndrome	Brachycephaly, Narrow mouth, High palate, Anal atresia, Brachyturricephaly, Short stature, Growth...	ORPHA:1225
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Oculocerebral Hypopigmentation Syndrome, Preus Type	Reduced bone mineral density, Abnormal hip bone morphology, Hydrocephalus, Abnormal brainstem mor...	ORPHA:2720
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Microtia, Atresia of the external auditory canal, Umbilical he...	ORPHA:1770
Au-Kline Syndrome	Short nose, Sensorineural hearing impairment, Microtia, Bifid nasal tip, Lipomyelomeningocele, Hi...	OMIM:616580
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Polyhydramnios, Omphalocele, Intestinal malrotation, Microcolon, Death in infancy, Umbilical hernia	ORPHA:2241
Autosomal Dominant Centronuclear Myopathy	Polyhydramnios, Thin ribs, Miscarriage, Pyloric stenosis, Decreased fetal movement	ORPHA:169189
Burn-Mckeown Syndrome	Hearing impairment, Conductive hearing impairment, Protruding ear, Atrial septal defect, Ventricu...	OMIM:608572
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Brachycephaly, Short philtrum, Short upper lip, Short stature, Thick vermilion bor...	ORPHA:364028
Kleefstra Syndrome	Chronic otitis media, Pulmonary artery stenosis, Hearing impairment, Coarctation of aorta, Tetral...	ORPHA:261494
Alg12-Cdg	Hyponatremia, Hypocholesterolemia, Hypoalbuminemia, Recurrent hypoglycemia	ORPHA:79324
Hypokalemic Periodic Paralysis	Mildly elevated creatine kinase, Episodic hypokalemia, Postprandial hyperglycemia	ORPHA:681
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Femur fracture, Osteopetrosis, Death in childhood, Optic nerve compression, Hydroc...	OMIM:612301
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Short nose	OMIM:619854
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Macrotia, Abnormal vena cava morphology, Ventricular septal defect, Low-set ears	ORPHA:166035
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev...	ORPHA:99852
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic seizures, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:93325
Diamond-Blackfan Anemia 10	Microtia, Low-set ears, Hearing impairment, Atresia of the external auditory canal, Conductive he...	OMIM:613309
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Short nose, High palate, Macrotia, Bulbous nose, Wide nasal bridge, Overfolded helix, Depressed n...	OMIM:617061
Den Hoed-De Boer-Voisin Syndrome	Secondary microcephaly, Agitation, Inability to walk, Sandal gap, 2-3 toe syndactyly, Stereotypic...	OMIM:619229
5Q14.3 Microdeletion Syndrome	Anteverted nares, Short nose	ORPHA:228384
Aspartylglucosaminuria	Chronic otitis media, Beaking of vertebral bodies, Abnormal vertebral morphology, Anterior beakin...	ORPHA:93
Isolated Anencephaly	Intrauterine growth retardation, Congenital diaphragmatic hernia, Omphalocele	ORPHA:563609
Sponastrime Dysplasia	Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Metaphyseal irregularity, Intrauteri...	ORPHA:93357
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Periventricular leukomalacia, Abnormal preputium morphology, Glandular hypospadias, Primary micro...	ORPHA:293725
Alagille Syndrome 2	Pulmonic stenosis, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot	OMIM:610205
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Short nose, Wide nasal bridge	OMIM:618437
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation	OMIM:619847
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Abnormal brainstem morphology, Vertigo, Hypertrophic cardiomyopathy, Hearing impai...	ORPHA:79279
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery steno...	OMIM:613001
Houge-Janssens Syndrome 2	Hydrocephalus, Plagiocephaly, Tented upper lip vermilion, Open mouth	OMIM:616362
Fetal Alcohol Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Cleft palate, Intrauterine growt...	ORPHA:1915
Tyshchenko Syndrome	Low-set ears, Pulmonic stenosis, Posteriorly rotated ears, Atrial septal defect, Ventricular sept...	OMIM:615102
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Hypoplasia of the corpus callosum, Secondary microcephaly, Agitation, Cerebral white matter atrop...	ORPHA:2148
Generalized Arterial Calcification Of Infancy	Mixed hearing impairment, Sensorineural hearing impairment, Hypertension, Stippled calcification ...	ORPHA:51608
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Al-Raqad Syndrome	Short nose, Low-set ears	OMIM:616459
Xq28 (MECP2) duplication	Brachycephaly, Narrow mouth	DECIPHER:45
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia, Recurrent otitis media	OMIM:616037
Coccidioidomycosis	Abnormal long bone morphology, Abnormal metacarpal morphology, Panniculitis, Abnormality of the v...	ORPHA:228123
Dpagt1-Cdg	Pulmonary hypoplasia	ORPHA:86309
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Hyperinsulinemia, Hyperlipidemia, Hyperglycemia, Glucose intolerance, Insulin-resista...	OMIM:608612
Filippi Syndrome	Optic atrophy, Ventricular septal defect	OMIM:272440
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Short nose, Microtia, Hearing impairment, Macrotia, Wide nasal bridge	OMIM:620250
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, High palate, Tented upper lip vermilion	OMIM:620149
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short nose, Wide nose, Sensorineural hearing impairment, Anteverted nares, Macrotia, Intrauterine...	ORPHA:391408
Distal 22Q11.2 Microdeletion Syndrome	Abnormal earlobe morphology, Aortic aneurysm, Sensorineural hearing impairment, Truncus arteriosu...	ORPHA:261330
Long-Olsen-Distelmaier Syndrome	Optic nerve hypoplasia, Low-set ears, Secundum atrial septal defect, Cardiomegaly, Dilated cardio...	OMIM:620609
Autosomal Recessive Polycystic Kidney Disease	Recurrent pneumonia, Pulmonary hypoplasia, Spontaneous pneumothorax	ORPHA:731
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Brachycephaly, Short philtrum, Abnormal dental enamel morphology, I...	ORPHA:439822
Developmental And Epileptic Encephalopathy 1	Growth delay, Plagiocephaly	OMIM:308350
19P13.12 Microdeletion Syndrome	Brachycephaly, Thin vermilion border, Hypodontia, Cleft palate, Long philtrum, Craniosynostosis, ...	ORPHA:254346
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Coarctation of aorta, Cardiomegaly, Dilated cardiomyopathy, Ventricular s...	OMIM:614921
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Protruding ear, Ventricular septal defect	ORPHA:2256
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Steatorrhea, Hypocholesterolemia	OMIM:212065
Fraser Syndrome 3	Abnormal lung lobation, Hydrocephalus	OMIM:617667
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:619909
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Death in childhood, Hypoplastic vertebral bodies, Abnormality of the...	OMIM:618641
Tetrasomy 18P	Short nose, Low-set, posteriorly rotated ears	ORPHA:3307
Bainbridge-Ropers Syndrome	Short nose, Anteverted nares, High palate, Low-set ears, Intestinal malrotation, Posteriorly rota...	OMIM:615485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia, Microtia, Dandy-Wa...	OMIM:236670
Abetalipoproteinemia	Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab...	ORPHA:14
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Meningocele	ORPHA:2481
Floating-Harbor Syndrome	Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Broad...	OMIM:136140
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Wormian bones, Tibial bowin...	OMIM:269150
Zimmermann-Laband Syndrome 1	Spina bifida occulta, Aortic root aneurysm, Cardiomyopathy, Aortic arch aneurysm, Low-set ears, H...	OMIM:135500
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Osteopenia, Barrel-shaped chest, Vertebral compression fracture, Pathologic fract...	OMIM:259770
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnormal rib morphology, Pul...	ORPHA:2519
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Ischemic stroke, Transposition of the great arteries, Muscular ventricular ...	OMIM:619503
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Clinodactyly of the 5th finger, Rectovaginal fistula, Spina bifida occulta,...	OMIM:300707
Silver-Russell Syndrome	Secondary microcephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sandal...	ORPHA:813
Childhood Absence Epilepsy	Attention deficit hyperactivity disorder, Jerky head movements, Punding	ORPHA:64280
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Spina bifida occulta, Sensorineural he...	OMIM:235510
Elsahy-Waters Syndrome	Anal stenosis, Cervical C2/C3 vertebral fusion, Delayed eruption of teeth, Low-set ears, Pectus e...	OMIM:211380
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Scaphocephaly	ORPHA:1143
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614262
Chromosome 2P16.1-P15 Deletion Syndrome	Postnatal growth retardation, Brachycephaly, High, narrow palate, High palate, Everted lower lip ...	OMIM:612513
Duplication Of Urethra	Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy...	ORPHA:237
Autosomal Recessive Omodysplasia	Short nose, Anteverted nares, Low-set ears, Posteriorly rotated ears, Depressed nasal bridge	ORPHA:93329
Smith-Kingsmore Syndrome	Short nose, Depressed nasal bridge, Umbilical hernia	OMIM:616638
Curry-Jones Syndrome	Triphalangeal hallux, Lipomyelomeningocele, Broad thumb, Duplication of thumb phalanx, 3-4 toe sy...	OMIM:601707
Pelger-Huet Anomaly	Ventricular septal defect, Recurrent otitis media, Umbilical hernia	OMIM:169400
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Abnormal cerebellum morphology, Agenesis of corpus callosum	ORPHA:255182
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Femoral bowing present at birth, straightening with time, Otosclero...	OMIM:166220
Meier-Gorlin Syndrome 6	Short nose, Anteverted nares, Microtia, Underdeveloped nasal alae, Depressed nasal ridge, Conduct...	OMIM:616835
Beckwith-Wiedemann Syndrome	Placental mesenchymal dysplasia, Dandy-Walker malformation, Cardiomyopathy, Diastasis recti, Prom...	OMIM:130650
Perlman Syndrome	Interrupted aortic arch, Low-set ears	OMIM:267000
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Aganglionic megacolon, Short philtrum, Abnormal parietal bone morph...	ORPHA:247262
Semilobar Holoprosencephaly	Neural tube defect, Abnormal brainstem morphology, Sensorineural hearing impairment, Scoliosis, H...	ORPHA:220386
Alobar Holoprosencephaly	Neural tube defect, Abnormal brainstem morphology, Sensorineural hearing impairment, Scoliosis, H...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Abnormal brainstem morphology, Sensorineural hearing impairment, Scoliosis, H...	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Abnormal brainstem morphology, Sensorineural hearing impairment, Scoliosis, H...	ORPHA:93924
Lennox-Gastaut Syndrome	Abnormal brainstem morphology, Vertigo	ORPHA:2382
Gabriele-De Vries Syndrome	Tip-toe gait, Sandal gap, Cortical dysplasia, Low-set ears, Waddling gait, Cryptorchidism, Long f...	OMIM:617557
Kapur-Toriello Syndrome	Low-set ears, Conductive hearing impairment, Patent ductus arteriosus, Atrial septal defect, Vent...	OMIM:244300
Treacher-Collins Syndrome	Tessier cleft, Brachycephaly, Encephalocele, Rectovaginal fistula, Abnormal dental enamel morphol...	ORPHA:861
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Tethered cord	OMIM:612918
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Histiocytoid cardiomyopathy, Hearing impairment, Overriding aorta, Atrial septal d...	OMIM:309801
Baraitser-Winter Syndrome 1	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Overfolded helix, W...	OMIM:243310
Intellectual Developmental Disorder, Autosomal Recessive 71	Macrotia, Ventricular septal defect	OMIM:618504
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Sensorineural hearing impairm...	ORPHA:2315
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Townes-Brocks Syndrome	Absent toe, Abnormal pinna morphology, Microtia, Broad thumb, Aplasia/Hypoplasia of the 3rd toe, ...	ORPHA:857
Micro Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, High palate, Macrotia, Intrauter...	ORPHA:2510
Opitz-Kaveggia Syndrome	Narrow palate, Plagiocephaly, Thick lower lip vermilion, Anal stenosis, Hydrocephalus, Dental cro...	OMIM:305450
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Proteus Syndrome	Macrodactyly, Asymmetry of the thorax, Abnormal form of the vertebral bodies, Lipoma, Abnormal fi...	ORPHA:744
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI, Optic disc pallor	OMIM:612291
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing, Wide mouth, Thin upper lip vermilion	OMIM:608688
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio...	OMIM:610442
Prolidase Deficiency	Concave nasal ridge, Short nose, High palate, Depressed nasal bridge	OMIM:170100
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Narrow mouth, High palate, Short stature, Smooth philtrum, Long philtrum, Pursed lips	ORPHA:562528
47,Xyy Syndrome	Male infertility, Hypospadias, Azoospermia, Hydrocephalus, Oligozoospermia, Varicocele, Cryptorch...	ORPHA:8
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Woods Syndrome	Optic atrophy, Ventricular septal defect	OMIM:615236
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Microphthalmia With Limb Anomalies	Short nose, Flared nostrils, Low-set ears, High palate, Cleft palate, Posteriorly rotated ears, D...	OMIM:206920
Colonic Atresia	Peptic ulcer, Omphalocele, Duodenal stenosis, Colonic atresia, Gastroschisis	ORPHA:1198
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Sandifer Syndrome	Abnormal head movements	ORPHA:71272
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, Thin vermilion border, Hypoplasia of the primary teeth, Delayed eruption of teeth,...	OMIM:257850
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Braddock-Carey Syndrome 1	Macrotia, Ventricular septal defect, Aortic valve prolapse, Posteriorly rotated ears	OMIM:619980
Kaufman Oculocerebrofacial Syndrome	Short nose, Hypocholesterolemia	OMIM:244450
Trisomy 9P	Brachycephaly, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth, ...	ORPHA:236
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, Low-set ears, Hypertrophic cardiomyopathy, Pulmon...	OMIM:609942
Weill-Marchesani Syndrome	Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis	ORPHA:3449
Van Esch-O'Driscoll Syndrome	Short nose, Esophageal atresia, Spina bifida occulta, Microtia, Tracheoesophageal fistula, Bifid ...	OMIM:301030
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Plagiocephaly	OMIM:614563
Harel-Yoon Syndrome	Short nose	OMIM:617183
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Recurrent otitis media	OMIM:616651
Orofaciodigital Syndrome Type 14	Molar tooth sign on MRI, Deviation of the hallux, Aplasia of the epiglottis, Low-set, posteriorly...	ORPHA:434179
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Absent antihelix, Dilation of Virchow-Robin spaces, Pulmonary artery stenosis, Hearing impairment...	OMIM:300998
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Tinnitus	ORPHA:369929
King-Denborough Syndrome	Ventricular septal defect, Low-set ears	OMIM:619542
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Sotos Syndrome	Muscular ventricular septal defect, Low-set ears, Macrotia, Conductive hearing impairment, Poster...	OMIM:117550
Mucopolysaccharidosis Type 2	Optic atrophy, Decreased nerve conduction velocity, Abnormal tricuspid valve morphology, Abnormal...	ORPHA:580
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Small earlobe, Hearing impairment, Cleft palate, Prominent nasal bridge, Microglossia...	ORPHA:364577
Kawasaki Disease	Myocarditis, Vasculitis, Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Doubl...	ORPHA:2331
Marshall-Smith Syndrome	Short nose, Anteverted nares, Choanal atresia, Protruding tongue, Conductive hearing impairment	ORPHA:561
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Femoral bowing, Hearing impairment, Biconcave flattened vertebrae, Dent...	OMIM:166200
Acrofrontofacionasal Dysostosis 2	Short stature, High palate, Brachycephaly	OMIM:239710
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Orofaciodigital Syndrome V	Aganglionic megacolon, Low-set ears, Hearing impairment, Tetralogy of Fallot, Optic disc coloboma...	OMIM:174300
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate	ORPHA:2736
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Low-set ears, Cleft palate, Protruding ear, Bulbous nose, Wide nasal bridge	OMIM:618571
Adenylosuccinase Deficiency	Brachycephaly, Growth delay, Wide mouth, Smooth philtrum, Long philtrum, Thin upper lip vermilion	OMIM:103050
Craniosynostosis And Dental Anomalies	Narrow palate, Supernumerary tooth, Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, Del...	OMIM:614188
Ogden Syndrome	Pulmonary edema, Pulmonary artery stenosis, Pulmonary hypoplasia, Umbilical hernia, Peripheral pu...	OMIM:300855
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Anteverted nares, Low-set ears, High palate, Intrauterine growth retardation	OMIM:219200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Low-set, posteriorly rotated ears, Sensorineur...	ORPHA:96129
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor...	ORPHA:2907
20Q11.2 Microduplication Syndrome	Short nose, Low-set, posteriorly rotated ears, Abnormal nasal bridge morphology, Anteverted nares...	ORPHA:363659
Phace Syndrome	Abnormal carotid artery morphology, Aortic root aneurysm, Optic nerve hypoplasia, Coarctation of ...	ORPHA:42775
Wrinkly Skin Syndrome	Osteopenia, Inguinal hernia, Slender long bone, Delayed eruption of teeth, Wide anterior fontanel...	OMIM:278250
Dysostosis, Stanescu Type	Brachycephaly, Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the ...	ORPHA:1798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Occipital encephalocele, Anencephaly, 11 pairs of ribs, Hydromyelia, Hydro...	OMIM:615287
Cardiofaciocutaneous Syndrome 1	Short nose, Hydrocephalus, Anterior creases of earlobe, Anteverted nares, High palate, Low-set ea...	OMIM:115150
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Gingival overgrowth, Everted ...	OMIM:212066
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:615879
49,Xxxxy Syndrome	Brachycephaly, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Short sta...	ORPHA:96264
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Clitoral hypertrophy, Hypospadias, Epiphyseal stippling, Po...	OMIM:614866
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Thin vermilion border, Plagiocephaly, High palate, Microdontia, Short stature, Fro...	OMIM:610759
Congenital Heart Defects And Skeletal Malformations Syndrome	Aortic root aneurysm, Atrial septal defect, Coarctation of aorta, Ventricular septal defect	OMIM:617602
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Brachycephaly, Short stature	OMIM:109120
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Hearing impairment, Patent ductus arteriosus, Atrial septal defect, Vent...	OMIM:620024
Acrodysostosis	Short nose, Delayed eruption of teeth, Anteverted nares, Depressed nasal ridge, Hearing impairmen...	ORPHA:950
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Abnormal pelvic girdle bone morphology, Anterior rib cupping, Platyspondyly, Growth arrest lines,...	OMIM:102700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, High, narrow palate, Thick lower lip vermilion, Short philtrum, Dental crowding, S...	OMIM:309583
Dend Syndrome	Short nose, Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Jacobsen Syndrome	Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Pyloric stenosis, Holoprosencephaly, I...	OMIM:147791
Choreoacanthocytosis	Socially inappropriate behavior, Hair-pulling, Hyperactivity, Head-banging, Chorea, Abnormal auto...	ORPHA:2388
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Broad columella, Depressed nasal bridge	OMIM:617865
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, S...	OMIM:619269
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, Widely spaced teeth, Narrow mouth, High palate, Growth delay, Tented upper lip ver...	OMIM:300260
Amoebiasis Due To Free-Living Amoebae	Abnormal brainstem MRI signal intensity, Stiff neck, Facial palsy, Abnormal midbrain morphology, ...	ORPHA:68
Xq21 Microdeletion Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal cochlea morphology, Renal artery stenos...	ORPHA:1435
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Wide nasal bridge, ...	OMIM:616430
6Q Terminal Deletion Syndrome	Hypoplasia of the corpus callosum, Low-set, posteriorly rotated ears, Hypospadias, Polymicrogyria...	ORPHA:75857
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:618870
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent otitis media, Hydrocephalus, Sensorineural hearing impairment, Low-set ears, Ventricula...	OMIM:619575
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Low-set, posteriorly rotated ears, Hearing impairment, Abnormal heart morphology, ...	ORPHA:494344
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kina...	OMIM:614643
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia	OMIM:229600
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia, Increased circulating cortisol level	OMIM:615954
Arthrogryposis And Ectodermal Dysplasia	Brachycephaly, Orofacial cleft, Abnormal dental enamel morphology, Oligodontia, Short stature, Cl...	OMIM:601701
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Sensorineural hearing impairment, Short nose, Narrow nasal bridge	ORPHA:544503
Wiedemann-Rautenstrauch Syndrome	Lipoatrophy, Small earlobe, Short humerus, Intrauterine growth retardation, Long toe, Delayed clo...	OMIM:264090
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Lambdoidal craniosynostosis, High palate, Abnormality of the dentition, Downturned...	OMIM:615398
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Scarring, Death in childhood, Inguinal ...	OMIM:614437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short nose, Anteverted nares, Low-set ears, Macrotia, Intrauterine growth retardation, Wide nasal...	OMIM:613026
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Short nose, Anteverted nares, Low-set ears, High palate, Depressed nasal bridge	ORPHA:314655
Pontocerebellar Hypoplasia, Type 8	Low-set ears, Patent foramen ovale, Ventricular septal defect, Posteriorly rotated ears	OMIM:614961
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose	ORPHA:1389
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Sensorineural hearing impairment, Cleft palate,...	OMIM:614207
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperammonemia, Hypoglycemia, Hyperglycemia	OMIM:615453
Stevenson-Carey Syndrome	Brachycephaly, Downturned corners of mouth, Pierre-Robin sequence, Narrow mouth	OMIM:611961
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Anteverted nares, Depressed nasal bridge, Macroglossia, Concave nasal ridge	OMIM:613038
Ring Chromosome 7 Syndrome	Short nose, Small earlobe, Anteverted nares, Severe intrauterine growth retardation, Median cleft...	ORPHA:1449
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Bradykinesia, Dysplastic corpus callosum, Agenesis of corpus c...	OMIM:614924
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hyperglycemia, T...	OMIM:151660
Beaulieu-Boycott-Innes Syndrome	Ventricular septal defect, Patent ductus arteriosus	OMIM:613680
Pontocerebellar Hypoplasia, Type 10	Short nose, Low hanging columella, High palate, Bulbous nose, Wide nasal bridge, Underdeveloped n...	OMIM:615803
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Menkes Disease	Intrauterine growth retardation, Brachycephaly, Short stature	OMIM:309400
Macrocephaly/Autism Syndrome	Short nose, Recurrent otitis media, High palate, Depressed nasal bridge	OMIM:605309
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Gingival overgrowth, Protruding tongue, Wide mouth, Flat occiput	OMIM:618797
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Bartsocas-Papas Syndrome	Short nose, Cleft palate, Underdeveloped nasal alae	ORPHA:1234
Kleefstra Syndrome 1	Hearing impairment, Abnormal pinna morphology, Conotruncal defect	OMIM:610253
Intellectual Developmental Disorder, Autosomal Dominant 1	Postnatal growth retardation, Brachycephaly, Widely spaced teeth, Everted lower lip vermilion, Mi...	OMIM:156200
Cole Disease	Abnormal blood phosphate concentration, Hyperglycemia	OMIM:615522
Loeys-Dietz Syndrome 5	Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Atrial septal defect, Ve...	OMIM:615582
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hyp...	ORPHA:572333
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly	ORPHA:1173
Noonan Syndrome 13	Plagiocephaly, Widely spaced teeth, High palate, Microdontia, Wide mouth, Long philtrum, U-Shaped...	OMIM:619087
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Cardiofaciocutaneous Syndrome	Short nose, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted nares, High palate, Macr...	ORPHA:1340
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Sensorineural hearing impairment, Scoliosis, Abnormal autonomic nervous system physiology, Abnorm...	ORPHA:293987
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Pierson Syndrome	Posterior lenticonus, Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular syste...	OMIM:609049
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Lisch nodules, Spina bifida	OMIM:162200
Beck-Fahrner Syndrome	Long philtrum, High palate, Open mouth, Brachycephaly	OMIM:618798
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect, Low-set ears	ORPHA:261190
Doors Syndrome	Optic atrophy, Sirenomelia, Spina bifida occulta, Low-set ears, Atresia of the external auditory ...	ORPHA:79500
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly	ORPHA:70472
19P13.3 Microduplication Syndrome	Low-set ears, Microtia, Ventricular septal defect, Posteriorly rotated ears	ORPHA:447980
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Sensorineural hearing impairment, High palate, Hearing impairment, Macrotia, Broad na...	OMIM:300749
Tetrasomy 9P	Glue ear, Dextrocardia, Juxtaductal coarctation of the aorta, Abnormal earlobe morphology, Hydroc...	ORPHA:3310
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Ventriculomegaly, Dilated third ventricle	ORPHA:500055
7Q11.23 Microduplication Syndrome	Chronic otitis media, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Aortic aneu...	ORPHA:96121
Warburg Micro Syndrome 4	Brachycephaly, Severe postnatal growth retardation, Narrow mouth, Short stature, Long philtrum	OMIM:615663
19P13.13 Microdeletion Syndrome	Short nose, Anteverted nares, Low-set ears, High palate, Macrotia, Macroglossia, Depressed nasal ...	ORPHA:357001
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Abnormal antihelix morphology, Hydrocephalus, Abnormal helix morphology...	ORPHA:261337
Branchioskeletogenital Syndrome	Brachycephaly, Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Ab...	ORPHA:1299
Aneurysm-Osteoarthritis Syndrome	Spondylolisthesis, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Arachnodactyly, Bifid u...	ORPHA:284984
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Jerky head movements, Slender long bone, Upper limb undergrowth, Low-set ears, Hearing impairment...	ORPHA:369837
Secondary Intestinal Lymphangiectasia	Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating...	ORPHA:90363
Dubowitz Syndrome	Hypocholesterolemia, Wide nasal bridge	OMIM:223370
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Iris coloboma, Retinal nonattachment, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Floating-Harbor Syndrome	Kyphoscoliosis, Dislocated radial head, Cochlear malformation, Short metacarpal, Delayed skeletal...	ORPHA:2044
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Short nose, Sensorineural hearing impairment, Microtia, Anteverted nares, Low-set ears, Protrudin...	OMIM:301040
Ciliary Dyskinesia, Primary, 9	Male infertility	OMIM:612444
Ciliary Dyskinesia, Primary, 18	Male infertility, Immotile sperm	OMIM:614874
Prune1-Related Neurological Syndrome	Plagiocephaly	ORPHA:544469
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short nose, Hydrocephalus, Sensorineural hearing impairment, Underdeveloped nasal alae, Depressed...	OMIM:616007
9P13 Microdeletion Syndrome	Short stature, Brachycephaly, High palate, Umbilical hernia	ORPHA:324313
Autosomal Dominant Omodysplasia	Short nose, Depressed nasal bridge	ORPHA:93328
Down Syndrome	Narrow palate, Delayed puberty, Brachycephaly, Aganglionic megacolon, Thick lower lip vermilion, ...	ORPHA:870
Turner Syndrome Due To Structural X Chromosome Anomalies	Reduced bone mineral density, Prolonged QT interval, Abnormal pinna morphology, Enlarged thorax, ...	ORPHA:99413
Mosaic Monosomy X	Reduced bone mineral density, Prolonged QT interval, Abnormal pinna morphology, Enlarged thorax, ...	ORPHA:99228
Monosomy X	Reduced bone mineral density, Prolonged QT interval, Abnormal pinna morphology, Enlarged thorax, ...	ORPHA:99226
Turner Syndrome	Reduced bone mineral density, Prolonged QT interval, Abnormal pinna morphology, Enlarged thorax, ...	ORPHA:881
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter...	OMIM:300963
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Anteverted ears	OMIM:618087
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Hyperphosphatemia	OMIM:101800
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormality of dental color, Cranial asymmetry, Growth delay, Abnormal dental morphology, Short s...	OMIM:163200
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Hydrolethalus	Microphthalmia, Anencephaly, Anophthalmia	ORPHA:2189
Diets-Jongmans Syndrome	Long ear, Hearing impairment, Umbilical hernia, Ventricular septal defect, Interrupted inferior v...	OMIM:618846
Noonan Syndrome 4	Low-set ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, Posteriorly rotated ears, Atrial se...	OMIM:610733
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Short philtrum, Short stature, Thick vermilion border, Tented upper lip vermilion	OMIM:618885
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Aarskog-Scott Syndrome	Short nose, Anteverted nares, Cleft palate, Large earlobe, Wide nasal bridge	OMIM:305400
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Sensorineural hearing impairment, Bifid scrotum, Arachnodactyly, Dysphagia, Lateral ventricle dil...	ORPHA:261537
Tick-Borne Encephalitis	Limb pain, Abnormal brainstem MRI signal intensity, Abnormal glossopharyngeal nerve morphology, S...	ORPHA:297
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Craniofacial-Deafness-Hand Syndrome	Sensorineural hearing impairment, Short nose, Depressed nasal bridge, Narrow naris	OMIM:122880
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Mgat2-Cdg	Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Prominent antihelix, Abnormal hea...	ORPHA:79329
White-Sutton Syndrome	Brachycephaly, Thin vermilion border, Short philtrum, High palate, Short stature, Downturned corn...	OMIM:616364
46,Xx Sex Reversal 5	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:618901
Joubert Syndrome 6	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di...	OMIM:610688
Angelman Syndrome	Brachycephaly, Widely spaced teeth, Protruding tongue, Wide mouth, Flat occiput, Macroglossia	OMIM:105830
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Anteverted nares, Low-set ears, High palate, Broad nasal tip, Intrauterine growth ret...	ORPHA:357074
Cadds	Intrauterine growth retardation, Sensorineural hearing impairment, Short nose	ORPHA:369942
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares, High palate, Glossoptosis, Cleft palate, Aplasia/Hypoplasia of the ...	ORPHA:1358
Trisomy 8P	Short nose, Abnormal middle ear morphology, Hydrocephalus, Anteverted nares, Aplasia/Hypoplasia o...	ORPHA:264450
Oculodentodigital Dysplasia	Abnormality of the nose, Short nose, Narrow nasal bridge, Anteverted nares, Abnormal pinna morpho...	ORPHA:2710
Ruvalcaba Syndrome	Intrauterine growth retardation, Short nose, Convex nasal ridge	ORPHA:3121
Alagille Syndrome 1	Hypoplasia of the ulna, Butterfly vertebral arch, Hemivertebrae, Low-set ears, Abnormal rib morph...	OMIM:118450
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventr...	ORPHA:2473
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Rhizomelic arm shortening	ORPHA:96190
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion, Plagiocephaly	OMIM:619680
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Low-set ears	OMIM:618325
Costello Syndrome	Low-set, posteriorly rotated ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve p...	ORPHA:3071
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect, Low-set ears	OMIM:616901
Popliteal Pterygium Syndrome	Spina bifida occulta, Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hyp...	OMIM:119500
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Cleft soft palate, Anteverted nares, Microtia, Hearing impairment, Submucous cleft so...	ORPHA:2282
Ciliary Dyskinesia, Primary, 14	Male infertility, Immotile sperm, Reduced sperm motility	OMIM:613807
Trisomy X	Atrial septal defect, Ventricular septal defect	ORPHA:3375
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Hyperactivity, Sensorineural hearing imp...	OMIM:613406
Diamond-Blackfan Anemia 5	Ventricular septal defect, Low-set ears	OMIM:612528
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Brachycephaly, Dental crowding, High palate, Narrow mouth, Ankyloglossia, Frontal ...	OMIM:616078
Ellis Van Creveld Syndrome	Emphysema, Aplasia/Hypoplasia of the lungs	ORPHA:289
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Omphalocele Syndrome, Shprintzen-Goldberg Type	Scoliosis, Anal atresia, Omphalocele	ORPHA:3164
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hydrocephalus, Ventricular septal defect	OMIM:615630
Sweeney-Cox Syndrome	Brachycephaly, Short philtrum, Narrow mouth, High palate, Anal atresia, Median cleft palate, Velo...	OMIM:617746
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Narrow mouth, High palate, Cleft palate, Long philtrum	OMIM:156610
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Sensorineural hearing impairment, Pulmonic stenosis, Hearing impairment, Mi...	OMIM:602782
Brain Malformations With Or Without Urinary Tract Defects	Anteverted nares, Short nose, Low-set ears, Overfolded helix	OMIM:613735
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Low-set ears, Pulmonary lymphangiectasia, Ventricular septal defect,...	OMIM:235255
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A...	ORPHA:370022
Mosaic Variegated Aneuploidy Syndrome	Low-set, posteriorly rotated ears, Abnormal aortic morphology, Hearing impairment, Coarctation of...	ORPHA:1052
Fixed Drug Eruption	Vaginal mucosal ulceration	ORPHA:293812
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Donohue Syndrome	Hyperinsulinemia, Hyperglycemia, Postprandial hyperglycemia, Fasting hypoglycemia	OMIM:246200
Mowat-Wilson Syndrome	Focal white matter lesions, Sensorineural hearing impairment, Bifid scrotum, Microcephaly, Ataxia...	ORPHA:2152
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Cervix cancer, Hypospadias, Azoospermia, Urogenital sin...	ORPHA:1772
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Low-set ears, Hearing impairment, Right ventricular hypertrophy, Atrial sep...	OMIM:208085
Peho Syndrome	Short nose	OMIM:260565
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Warburg Micro Syndrome 3	Narrow palate, Downturned corners of mouth, Postnatal growth retardation, Brachycephaly	OMIM:614222
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Anosmia	ORPHA:1295
Aprosencephaly And Cerebellar Dysgenesis	Bifid uvula, Aprosencephaly	OMIM:601374
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal right ventricle morphology, Spina bifida occulta, Sensorineural hearing impairment, Macr...	ORPHA:500095
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Abnormality of the philtrum, Short stature, Abnormal oral mucosa mo...	ORPHA:2673
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, External genital hypoplasia, Clinodactyly of the 5th finger, Head-bangi...	ORPHA:177907
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Thin vermilion border, Brachycephaly, Short stature, Long philtrum	OMIM:614800
Malan Syndrome	Short nose, Advanced eruption of teeth	OMIM:614753
Short Syndrome	Hyperglycemia, Insulin resistance, Glucose intolerance, Wide nasal bridge, Insulin-resistant diab...	OMIM:269880
Acquired Aneurysmal Subarachnoid Hemorrhage	Hyperglycemia, Hypercholesterolemia	ORPHA:90065
Lig4 Syndrome	Growth delay, Thin vermilion border, Brachycephaly, Biparietal narrowing	ORPHA:99812
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Irregular dentition, Short stature, Cleft palate, Smooth philtrum	OMIM:615656
Spinocerebellar Ataxia Type 1	Optic atrophy, Abnormal nerve conduction velocity, Abnormal brainstem morphology, Atrophy/Degener...	ORPHA:98755
Chromosome 2Q37 Deletion Syndrome	Short stature, Brachycephaly	OMIM:600430
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Oligodontia, Short stature, Cleft upper lip, Cleft palate, Wide mouth	OMIM:201180
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Colpocephaly	OMIM:618460
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Anteverted nares, Abnormal pinna morphology, Cleft palate, Anteriorly placed anus, De...	OMIM:217980
Rodrigues Blindness	Microphthalmia	OMIM:268320
48,Xxxy Syndrome	Brachycephaly, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious t...	ORPHA:96263
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Dolichocephaly, Mesomelic short stature	ORPHA:2633
Chronic Mucocutaneous Candidiasis	Dyspareunia, Abnormal vagina morphology	ORPHA:1334
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79444
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Cleft soft palate, Hydrocephalus, Intestinal malrotation, Intrauterine growth retarda...	OMIM:619321
Gapo Syndrome	Short nose, High, narrow palate, Anteverted nares, Eruption failure, Umbilical hernia, Protruding...	OMIM:230740
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Supernumerary tooth, Agenesis of molar, Bicoronal synostosis, Microdontia, Anter...	OMIM:619718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Robinow-Sorauf Syndrome	Plagiocephaly, Pansynostosis, Craniosynostosis	OMIM:180750
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Dysplastic corpus callosum	OMIM:619423
Coffin-Siris Syndrome 4	Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Hearing impairment, Patent ductus ar...	OMIM:614609
Joubert Syndrome 5	Occipital encephalocele, Molar tooth sign on MRI, Cleft palate, Thickened superior cerebellar ped...	OMIM:610188
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Low-set ears, Right ventricular hypertrophy	OMIM:613404
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Dental crowding, High palate, Frontal bossing, Dolichocephaly, Thick vermilion bor...	OMIM:619005
Hamamy Syndrome	Brachycephaly, Hypodontia, High palate, Everted lower lip vermilion, Enamel hypoplasia, Wide mout...	OMIM:611174
Toluene Embryopathy	Protruding ear, Short nose, Low-set ears	ORPHA:1920
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Short nose, Wide nose, Low-set ears, High palate, Cleft palate, Prominent nasal bridge, Convex na...	ORPHA:251028
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Oculodentodigital Dysplasia	Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, Abnormal pinna morpholo...	OMIM:164200
Developmental And Epileptic Encephalopathy 84	Plagiocephaly, Thick lower lip vermilion, Smooth philtrum	OMIM:618792
Cree Mental Retardation Syndrome	Brachycephaly, Cleft soft palate	OMIM:606851
Paternal Uniparental Disomy Of Chromosome 6	Abnormal earlobe morphology, Patent ductus arteriosus, Umbilical hernia, Cardiomegaly, Ventricula...	ORPHA:96191
Intellectual Developmental Disorder, X-Linked 98	Long nose, Short nose, Anteverted nares, Underdeveloped nasal alae, Macrotia, Prominent nasal bri...	OMIM:300912
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Narrow mouth, High palate, Everted lower lip vermilion, Growth delay, Smooth philt...	ORPHA:261349
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Intrauterine growth retardation, Short nose, High palate, Wide nasal bridge	OMIM:618005
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Abnormality of the dentition, Anal atresia, Short stature, Cleft palate, Bifid uvu...	OMIM:300968
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Sensorineural hearing impairment, Bifid scrotum, Arachnodactyly, Dysphagia, Lateral ventricle dil...	ORPHA:261552
Craniofrontonasal Syndrome	Brachycephaly, Abnormality of the dentition, Short stature, Cleft upper lip, Frontal bossing, Cle...	OMIM:304110
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Open bite, High palate, Everted lower lip vermilion, Short stature, Frontal bossin...	ORPHA:1974
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Menke-Hennekam Syndrome 1	Short nose, Narrow nasal bridge, Anteverted nares, Absent earlobe, Underdeveloped nasal alae, Hig...	OMIM:618332
Pontocerebellar Hypoplasia, Type 2E	Large earlobe, Short nose, Wide nose	OMIM:615851
Pyruvate Carboxylase Deficiency	Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal...	ORPHA:3008
Acrofacial Dysostosis 1, Nager Type	Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Low-set ears, Atresia of the external ...	OMIM:154400
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation	OMIM:619487
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Protruding ear, Low-set, posteriorly rotated ears, Abnormal pinna morphology, High pa...	ORPHA:2953
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose	ORPHA:496790
Jaberi-Elahi Syndrome	Protruding ear, Short nose, Low-set ears, Depressed nasal bridge	OMIM:617988
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Hyperglycemia, Hypercho...	OMIM:248370
Mowat-Wilson Syndrome	Aganglionic megacolon, Recurrent otitis media, Pulmonary artery stenosis, Pulmonic stenosis, Upli...	OMIM:235730
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Rectal abscess, Omphalocele, Intestinal malrotation, Congenital pulmonary airway ...	ORPHA:436252
Bardet-Biedl Syndrome	Hypoplasia of penis, Hypoplasia of the ovary, Ataxia, Syndactyly, Hypogonadism, Hydrometrocolpos,...	ORPHA:110
Trichohepatoenteric Syndrome 1	Large placenta, Microtia, Low-set ears, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septa...	OMIM:222470
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Temtamy Syndrome	Microphthalmia	OMIM:218340
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Generalized lipodystrop...	OMIM:619127
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
White-Kernohan Syndrome	Dysplastic corpus callosum, Recurrent otitis media, Rectovaginal fistula, Low-set ears, Macrotia,...	OMIM:619426
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, High palate	ORPHA:329178
Genitopatellar Syndrome	Pulmonary hypoplasia	OMIM:606170
Phelan-Mcdermid Syndrome	Hearing impairment, Macrotia, Patent ductus arteriosus, Protruding ear, Ventricular septal defect	OMIM:606232
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Intestinal malrotation, Growth delay, Wide mouth, Duodena...	OMIM:617798
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Short philtrum, Rectovaginal fistula, Short lingual frenulum, Anteriorly placed an...	OMIM:608980
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Low-set ears	OMIM:270450
Cardiofacioneurodevelopmental Syndrome	Pulmonic stenosis, Protruding ear, Atrioventricular canal defect, Ventricular septal defect	OMIM:619123
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Short nose, Anteverted nares, Choanal atresia, Cleft palate, Posteri...	OMIM:301044
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly, Molar tooth sign on MRI	OMIM:614615
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Sparse eyelashes, Sparse eyebrow, Absent eyebrow, Meningocele	ORPHA:1010
Currarino Syndrome	Septate vagina, Tethered cord, Bicornuate uterus, Rectovaginal fistula	OMIM:176450
Galloway-Mowat Syndrome 4	Short stature, Plagiocephaly	OMIM:617730
Chime Syndrome	Pulmonary valve atresia, Transposition of the great arteries, Hearing impairment, Tetralogy of Fa...	ORPHA:3474
Nablus Mask-Like Facial Syndrome	Short nose, Small earlobe, Anteverted nares, Low-set ears, High palate, Posteriorly rotated ears,...	OMIM:608156
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Protruding ear, Aortic aneurysm, Optic nerve hypoplasia, Sensorineural hearing impairment, Branch...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Protruding ear, Aortic aneurysm, Optic nerve hypoplasia, Sensorineural hearing impairment, Branch...	ORPHA:352665
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Martsolf Syndrome 1	Brachycephaly, Short philtrum, Tooth malposition, High palate, Short stature, Long philtrum	OMIM:212720
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly, Dentinogenesis imperfecta	OMIM:610968
Beta-Ketothiolase Deficiency	Hyperammonemia, Hypoglycemia, Hyperglycemia, Hyperuricemia	ORPHA:134
Nicolaides-Baraitser Syndrome	Short nose, High, narrow palate, Wide nasal base, Narrow nasal bridge, Low hanging columella, Ant...	OMIM:601358
Acrocallosal Syndrome	Short nose, Rectovaginal fistula, Abnormal pinna morphology, High palate, Low-set ears, Anal atre...	OMIM:200990
Neurodegeneration With Brain Iron Accumulation 2A	Hearing impairment, Short nose	OMIM:256600
Moebius Syndrome	Microphthalmia	OMIM:157900
3Q29 Microdeletion Syndrome	Short nose, Low-set ears, High palate, Macrotia, Prominent nasal bridge	ORPHA:65286
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia, Low...	OMIM:619476
Congenital Disorder Of Glycosylation, Type Iie	Short nose, Wide nose, Sensorineural hearing impairment, Low-set ears, Protruding tongue, Intraut...	OMIM:608779
Dihydropyrimidinase Deficiency	Growth delay, Plagiocephaly, Anal atresia	OMIM:222748
Thauvin-Robinet-Faivre Syndrome	Sensorineural hearing impairment, Macrotia, Mitral valve prolapse, Protruding ear, Varicose veins...	OMIM:617107
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Ventriculomegaly, Dilated third ventricle	OMIM:615574
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Abnormal palate morphology, Brachycephaly, Frontal bossing, Hypodontia, Lip pit	ORPHA:1236
Poikiloderma With Neutropenia	Short nose, Recurrent otitis media, Recurrent sinusitis, Depressed nasal bridge, Underdeveloped n...	OMIM:604173
Keutel Syndrome	Recurrent otitis media, Calcification of the auricular cartilage, Pulmonary artery hypoplasia, Pu...	OMIM:245150
Chromosome 14Q11-Q22 Deletion Syndrome	Optic atrophy, Patent foramen ovale, Low-set ears, Patent ductus arteriosus, Ventricular septal d...	OMIM:613457
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Macrotia, Ventricular septal defect	OMIM:234050
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, High palate, Glossoptosis, Growth delay, Pierre-Robin sequence, Cleft palate, Micr...	OMIM:254940
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Aortic dissection, Mitral valve prol...	OMIM:175050
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Conductive hearing impairment, Cranium bifidum occultum, Tetralogy of Fallot, Low-set, posteriorl...	ORPHA:306542
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect, Cholesteatoma	OMIM:610978
Distal Duplication 5Q	Macrotia, Ventricular septal defect, Low-set ears, Dextrocardia	ORPHA:96097
Recessive Dystrophic Epidermolysis Bullosa Inversa	Vaginal stricture	ORPHA:79409
Osteopetrosis With Renal Tubular Acidosis	Optic atrophy, Osteopetrosis, Prominent floating ribs, High palate, Pectus excavatum, Pulmonary a...	ORPHA:2785
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hyperglycemia, Ele...	ORPHA:465508
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Sensorineural hearing impairment, High palate, Low-set ears, Hearing impairment, Conv...	OMIM:300661
Mietens Syndrome	Short nose, Wide nasal bridge, Wide nose	ORPHA:2557
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Narrow mouth, Growth delay, Cleft palate, Long philtrum, Thin upper lip vermilion	OMIM:601353
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia	ORPHA:79443
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Lymphedema-Distichiasis Syndrome	Varicose veins, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:153400
Mitchell-Riley Syndrome	Hyperbilirubinemia, Diabetes mellitus, Hyperglycemia	OMIM:615710
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Atresia of the external auditory canal, Conductive hearing impairment, Ventricular septal defect,...	OMIM:106260
Filippi Syndrome	Optic atrophy, Ventricular septal defect	ORPHA:3255
White-Sutton Syndrome	Brachycephaly, Short philtrum, High palate, Narrow mouth, Short stature, Downturned corners of mo...	ORPHA:468678
Diamond-Blackfan Anemia	Microtia, Low-set ears, Coarctation of aorta, Abnormal heart morphology, Atrial septal defect, Ve...	ORPHA:124
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose	ORPHA:1129
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Impulsivity, Synostosis of the proximal phalanx of the thumb with the...	OMIM:300967
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Low-set ears, Uplifted earlobe	OMIM:616449
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Intestinal polyposis, Wide nose, Anteverted nares, Hamartomatous polyp...	ORPHA:109
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Abnormal dental enamel morphology, Esophagitis, Abnormal...	ORPHA:2908
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Hypospadias, Cerebral white ma...	ORPHA:477993
Warburg Micro Syndrome 2	Macrotia, Short nose, Prominent nasal bridge, Asymmetry of the ears	OMIM:614225
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Hyperactivity, Prominent fingertip pads, Short lower limbs, Dysphagia, Lateral ventri...	OMIM:615873
Kabuki Syndrome 1	Recurrent otitis media, Hydrocephalus, Low-set ears, Hearing impairment, Macrotia, Coarctation of...	OMIM:147920
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Coffin-Siris Syndrome	Short nose, Wide nasal base, Delayed eruption of teeth, Anteverted nares, Thick nasal alae, Heari...	ORPHA:1465
Distal Renal Tubular Acidosis	Rickets, Reduced bone mineral density, Bone pain, Sensorineural hearing impairment, Enlarged vest...	ORPHA:18
Trisomy 10P	Abnormality of the nose, Short nose, Rectovaginal fistula, Anteverted nares, Low-set ears, High p...	ORPHA:171929
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Growth delay, Frontal bossing, Widely spaced teeth, Plagiocephaly	OMIM:617193
Acromelic Frontonasal Dysostosis	Brachycephaly, Encephalocele, Midline facial cleft, Parietal foramina, Cleft upper lip, Cleft pal...	OMIM:603671
Zellweger Syndrome	Optic atrophy, Sensorineural hearing impairment, Abnormal pinna morphology, Ventricular septal de...	ORPHA:912
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Pulmonary artery aneurysm, Anomalous origin of right coronary artery f...	OMIM:616462
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly, Short philtrum, High palate, Wide mouth	OMIM:620224
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly, Steatorrhea, Widely spaced teeth, Dental crowding, High palate, Mic...	OMIM:618268
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology	ORPHA:467166
Autosomal Dominant Robinow Syndrome	Short nose, High, narrow palate, Wide nose, Anteverted nares, Low-set ears, Median cleft palate, ...	ORPHA:3107
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Hardikar Syndrome	Mild hearing impairment, Patent ductus arteriosus, Vertigo, Patent foramen ovale, Pulmonary arter...	OMIM:301068
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Short nose, Delayed eruption of teeth, Short hard palate, Anteverted nares, High p...	OMIM:180700
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Syndromic Diarrhea	Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicuspid aortic valve, ...	ORPHA:84064
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Aqueductal stenosis, Plagiocephaly, Short philtrum, Hydrocephalus, Exaggerated cup...	OMIM:619512
19Q13.11 Microdeletion Syndrome	Hearing impairment, Ventricular septal defect	ORPHA:217346
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Biparietal narrowing, Growth delay, Frontal bossing	ORPHA:2612
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Low-set ears, Anteverted ears, Hearing impairment, Holoprosencephaly, Umbil...	OMIM:613884
Gangliocytoma	Abnormal brainstem morphology, Accelerated skeletal maturation, Scoliosis, Abnormal cerebellum mo...	ORPHA:251937
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, High, narrow palate, Widely spaced teeth, Cleft soft palate, Short philtrum, Ankyl...	OMIM:619950
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect	OMIM:617635
Opitz Gbbb Syndrome	Low-set ears, Ventricular septal defect, Posteriorly rotated ears, Umbilical hernia	OMIM:300000
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Widely spaced teeth, Delayed eruption of teeth, Gingival overgrowth...	OMIM:301072
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Widely spaced teeth, Short stature, Frontal bossing, Downturned corners of mouth, ...	OMIM:616728
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Upper limb undergrowth, Aplasia of the uterus, Bilateral sensorineural hea...	OMIM:614527
Townes-Brocks Syndrome 1	Hydrocephalus, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr ear, Macrotia, Tetral...	OMIM:107480
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, Thick lower lip vermilion, Short philtrum, Dental crowding, High palate, Everted l...	ORPHA:3063
Hallermann-Streiff Syndrome	Brachycephaly, Supernumerary tooth, High, narrow palate, Narrow mouth, Glossoptosis, Abnormality ...	ORPHA:2108
Congenital Myopathy 13	Brachycephaly, High palate, Short stature, Downturned corners of mouth, Cleft palate	OMIM:255995
Diamond-Blackfan Anemia 1	Spina bifida occulta, Tricuspid stenosis, Coarctation of aorta, Atrial septal defect, Ventricular...	OMIM:105650
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
3Q29 Microduplication Syndrome	Hearing impairment, Ventricular septal defect, Low-set ears	ORPHA:251038
Congenital Disorder Of Glycosylation, Type Iiaa	Patent ductus arteriosus after premature birth, Ventricular septal defect	OMIM:620454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Low-set ears, Short nose, High palate, Posteriorly rotated ears	OMIM:617527
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib...	OMIM:620519
Refsum Disease	Microphthalmia	ORPHA:773
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrioventricular canal defect, Abnormal antihelix morphology, Low-set ears, Posteriorly rotated e...	ORPHA:3047
Saethre-Chotzen Syndrome	Narrow palate, Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Parietal foramina, Shor...	OMIM:101400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Short nose, Macroglossia	ORPHA:505248
Wilson Disease	Face of the giant panda sign, Decreased nerve conduction velocity, Osteomalacia, Esophageal varix...	OMIM:277900
Peters-Plus Syndrome	Square pelvis bone, Proximal placement of thumb, Short metacarpal, Microcephaly, Syndactyly, Umbi...	OMIM:261540
Costello Syndrome	Lymphangiectasis, Hydrocephalus, Low-set ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, Po...	OMIM:218040
Temtamy Preaxial Brachydactyly Syndrome	Short nose, Low-set ears, Severe sensorineural hearing impairment	ORPHA:363417
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Eruption failure, High palate	ORPHA:476126
Noonan Syndrome 1	Sensorineural hearing impairment, Low-set ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, H...	OMIM:163950
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Spina bifida occulta, Growth delay, Short stature, Intrauterine growth retardation	ORPHA:500
Plaa-Associated Neurodevelopmental Disorder	Sensorineural hearing impairment, Short nose, High palate, Low-set, posteriorly rotated ears	ORPHA:521426
Ayme-Gripp Syndrome	Brachycephaly, Narrow mouth, Abnormality of the dentition, Short stature, Craniofacial asymmetry,...	OMIM:601088
Adnp Syndrome	Brachycephaly, Plagiocephaly, Advanced eruption of teeth, Thick lower lip vermilion, Short statur...	ORPHA:404448
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Opsismodysplasia	Short nose, Depressed nasal bridge	ORPHA:2746
Histiocytoid Cardiomyopathy	Optic atrophy, Hydrocephalus, Stroke-like episode, Cardiomegaly, Ventricular septal defect	ORPHA:137675
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis	OMIM:277450
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Sensorineural hearing impairment, Low-set ears, Anteverted ears, Pulmonary artery stenosis, Macro...	ORPHA:459070
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, High palate, Low-set ears, Intestinal malrotation, Hearing impairment, Cleft palate, ...	OMIM:601776
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aggressive behavior, Clinodactyly ...	ORPHA:466791
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Trichothiodystrophy 1, Photosensitive	Protruding ear, Intestinal obstruction, Short nose, Macrotia	OMIM:601675
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect	OMIM:263630
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Short nose, High, narrow palate, Short uvula, Hydrocephalus, Anteverted nares, High palate, Bilat...	OMIM:619475
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly	OMIM:620073
Renal And Mullerian Duct Hypoplasia	Short nose	OMIM:266810
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Growth delay, Plagiocephaly, Everted lower lip vermilion	OMIM:615471
Fucosidosis	Brachycephaly, Abnormality of the dentition	ORPHA:349
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Thin vermilion border, Wide mouth, Short philtrum	ORPHA:2062
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Mild postnatal growth retardation, Brachycephaly, Thin upper lip vermilion	ORPHA:456312
Frontorhiny	Cranium bifidum occultum, Microphthalmia, Basal encephalocele, Encephalocele	ORPHA:391474
Lowe Oculocerebrorenal Syndrome	Rickets, Wrist swelling, Joint contracture of the hand, Genu valgum, Platyspondyly, Pathologic fr...	OMIM:309000
Hand-Foot-Genital Syndrome	Microtia, Ventricular septal defect	ORPHA:2438
9Q33.3Q34.11 Microdeletion Syndrome	Tented philtrum, Thin vermilion border, Brachycephaly, Plagiocephaly, Narrow mouth, Esophagitis	ORPHA:495818
Rabson-Mendenhall Syndrome	Hypokalemia, Fasting hypoglycemia, Impaired glucose tolerance, Increased C-peptide level, Diabeti...	ORPHA:769
Peters Plus Syndrome	Short nose, Low-set, posteriorly rotated ears, Spina bifida occulta, Hydrocephalus, Anteverted na...	ORPHA:709
Cohen Syndrome	Optic atrophy, Aplasia/Hypoplasia of the earlobes, Sensorineural hearing impairment, Mitral valve...	ORPHA:193
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Sensorineural hearing impairment, Patent foramen ovale, Abnormal pinna morphology,...	OMIM:616975
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Macrotia, Ventricular septal defect, Low-set ears	OMIM:250410
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Transverse vaginal septum, Semilobar holoprosencephaly, Rectovaginal fistula, Microtia, Split han...	OMIM:129900
Deeah Syndrome	Narrow palate, Short nose, Prominent nasal tip, High palate, Low-set ears, Hearing impairment, In...	OMIM:619004
Wiedemann-Steiner Syndrome	Short nose, Low-set ears, High palate, Intrauterine growth retardation, Wide nasal bridge	ORPHA:319182
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Short lingual frenulum, High palate, Wide mouth, Craniosynostosis	ORPHA:1521
Renpenning Syndrome 1	Situs inversus totalis, Hearing impairment, Macrotia, Tetralogy of Fallot, Protruding ear, Atrial...	OMIM:309500
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hyperuricemia, H...	OMIM:203800
Distal Deletion 12Q	Brachycephaly, Supernumerary tooth, High, narrow palate, Esophageal atresia, Pyloric stenosis, Sh...	ORPHA:96149
Rothmund-Thomson Syndrome, Type 2	Short nose, Delayed eruption of teeth, High palate, Underfolded helix, Prominent antihelix, Anter...	OMIM:268400
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia	ORPHA:340
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Oculocerebral Hypopigmentation Syndrome, Cross Type	Sensorineural hearing impairment, Short nose, Anteverted nares, Depressed nasal bridge	ORPHA:2719
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle	ORPHA:314404
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Macrotia, Patent ductus arteriosus, Protruding ear, Ventricular septal def...	ORPHA:464306
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	ORPHA:466650
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hypoglycemia, Hyperglycinemia, Hyperglycemia	OMIM:620423
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Microdontia	OMIM:261990
Roberts Syndrome	Postnatal growth retardation, Brachycephaly, High palate, Severe intrauterine growth retardation,...	ORPHA:3103
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Downturned corners of mouth, Smooth philtrum, Long philtrum, Thin upper lip vermilion	OMIM:618548
Adams-Oliver Syndrome	Microphthalmia, Encephalocele	ORPHA:974
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Brachycephaly, Thick lower lip vermilion, Short philtrum, Oligodontia, High palate, Narrow mouth,...	OMIM:309590
Williams Syndrome	Abnormal carotid artery morphology, Chronic otitis media, Sensorineural hearing impairment, Pulmo...	ORPHA:904
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Teebi-Shaltout Syndrome	Hypoplastic helices, Small earlobe, Low-set ears, Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Hydrocephalus, Low...	ORPHA:2461
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Esophageal atresia, Rectovaginal fistula, Microgastria, Perineal fistula, Esophagi...	ORPHA:2538
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Growth delay, Plagiocephaly, Widely spaced teeth	ORPHA:496641
Arterial Tortuosity Syndrome	Short nose, Esophagitis, Median cleft palate, Pyloric stenosis, Macrotia, Hiatus hernia	ORPHA:3342
Arboleda-Tham Syndrome	Chronic otitis media, Optic atrophy, Recurrent otitis media, Small earlobe, Underdeveloped tragus...	OMIM:616268
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:123700
Brain-Lung-Thyroid Syndrome	Sensorineural hearing impairment, Patent foramen ovale, Atrial septal defect, Ventricular septal ...	ORPHA:209905
Atelis Syndrome 2	Vitreous hemorrhage, Remnants of the hyaloid vascular system	OMIM:620185
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Rectovestibular fistula, Short nose, Anal stenosis, Anteverted nares, Microtia, High palate, Anal...	ORPHA:280633
Microlissencephaly-Micromelia Syndrome	Short nose	ORPHA:50810
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype...	OMIM:615474
Isolated Sedoheptulokinase Deficiency	Steatorrhea, Postprandial hyperglycemia	ORPHA:440713
Marfan Syndrome	Spondylolisthesis, Meningocele, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Arachnod...	ORPHA:558
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Knobloch Syndrome 1	Occipital encephalocele, Spina bifida occulta, Pyloric stenosis, Occipital meningocele, Bulbous n...	OMIM:267750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Multicentric Osteolysis, Nodulosis, And Arthropathy	Brachycephaly, Delayed eruption of teeth, Gingival overgrowth, Short stature, Frontal bossing	OMIM:259600
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Yunis-Varon Syndrome	Hydrocephalus, Abnormal pinna morphology, Cardiomyopathy, Renal artery stenosis, Low-set ears, He...	ORPHA:3472
Eisenmenger Syndrome	Atrioventricular canal defect, Bacterial endocarditis, Stroke, Aortopulmonary window, Vertigo, Ab...	ORPHA:97214
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short philtrum	ORPHA:521445
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short nose, Rectal prolapse, Anteverted nares, High palate, Broad nasal tip, Intrauterine growth ...	OMIM:617157
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Toriello-Lacassie-Droste Syndrome	Hearing impairment, Anteverted nares, Short nose, Aganglionic megacolon	ORPHA:3339
Omodysplasia 1	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:258315
X-Linked Intellectual Disability, Armfield Type	Brachycephaly, Short philtrum, Short stature, Downturned corners of mouth, Cleft palate, Wide mouth	ORPHA:85276
Scalp-Ear-Nipple Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Small earlobe, Microtia, Underdeveloped tragus...	OMIM:181270
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric...	ORPHA:26793
Lathosterolosis	Anteverted nares, Short nose, Prominent nasal tip	OMIM:607330
Carpenter Syndrome 2	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Sensorineural hearing ...	OMIM:614976
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Steatorrhea, Brachycephaly, Short stature, Thin up...	OMIM:616263
Chilton-Okur-Chung Neurodevelopmental Syndrome	Agenesis of incisor, Plagiocephaly, Widely spaced teeth, Posterior plagiocephaly, Short philtrum,...	OMIM:619841
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation	OMIM:300868
Cleidocranial Dysplasia 2	Supernumerary tooth, Plagiocephaly, Delayed eruption of primary teeth	OMIM:620099
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Short nose, Prominent nasal tip, High palate, Bifid uvula, Posteriorly rotated ears, Broad nasal ...	OMIM:620330
Faundes-Banka Syndrome	Delayed puberty, Plagiocephaly, Frontal bossing, Cleft palate, Intrauterine growth retardation, T...	OMIM:619376
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Low-set ears, Optic disc coloboma	ORPHA:251014
Trichorhinophalangeal Syndrome, Type Ii	Hydrometrocolpos, Hip subluxation, Recurrent otitis media, Clinodactyly of the 5th finger, Cone-s...	OMIM:150230
Combined Oxidative Phosphorylation Deficiency 15	Optic atrophy, Ventricular septal hypertrophy, Ventricular septal defect, Optic disc pallor	OMIM:614947
Degcags Syndrome	Short nose, Unilateral conductive hearing impairment, Sensorineural hearing impairment, Anteverte...	OMIM:619488
Microphthalmia, Syndromic 1	Pulmonary hypoplasia	OMIM:309800
Full Nf2-Related Schwannomatosis	Retinal hamartoma, Remnants of the hyaloid vascular system, Epiretinal membrane, Abnormal optic n...	ORPHA:637
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Low-set ears, Aganglionic megacolon	OMIM:609460
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Low-set ears, Hypertrophic cardiomyopathy, Pulmonic stenosis, Posteriorly rotated ears, Atrial se...	OMIM:607721
Aspartylglucosaminuria	Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Pathologic fracture, Scoliosis, Ky...	OMIM:208400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Low-set ears	OMIM:614653
Norrie Disease	Optic atrophy, Sensorineural hearing impairment, Abnormal helix morphology, Abnormal cochlea morp...	ORPHA:649
Lig4 Syndrome	Brachycephaly	OMIM:606593
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:231160
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Short nose, Cleft soft palate, Pyloric stenosis, Hearing impairment, Broad nasal tip, Prominent n...	ORPHA:268261
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Wiedemann-Rautenstrauch Syndrome	Short philtrum, Hydrocephalus, Premature loss of teeth, Narrow mouth, Abnormality of the dentitio...	ORPHA:3455
Cornelia De Lange Syndrome	Short nose, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Sensorineural hearing i...	ORPHA:199
Congenital Disorder Of Glycosylation, Type Iiw	Low-set ears, Ventricular septal defect, Tetralogy of Fallot, Recurrent otitis media	OMIM:619525
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly	ORPHA:2988
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Microtia, Split hand, Ectrodactyly, Hearing impairment, Split foot, To...	OMIM:604292
Mandibuloacral Dysplasia With Type B Lipodystrophy	Convex nasal ridge, Short nose	ORPHA:90154
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Recurrent otitis media, Sensorineural hearing impairment, S...	OMIM:194050
Proboscis Lateralis	Optic nerve hypoplasia, Holoprosencephaly, Optic disc coloboma, Patent ductus arteriosus, Ventric...	ORPHA:141099
1P21.3 Microdeletion Syndrome	Short nose, Long ear, Broad nasal tip	ORPHA:293948
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Isolated Exencephaly	Low-set ears, Holoprosencephaly, Depressed nasal bridge	ORPHA:563612
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris	OMIM:251300
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem morphology, Choroid hemorrhage, Abnormal brainstem MRI signal intensity	ORPHA:88619
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:620558
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hydrocephalus, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Abnormal hea...	ORPHA:363700
Peroxisome Biogenesis Disorder 4B	Sensorineural hearing impairment, Short nose	OMIM:614863
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Pmm2-Cdg	Kyphoscoliosis, Osteopenia, Abnormal subcutaneous fat tissue distribution, Angina pectoris, Cereb...	ORPHA:79318
Toxic Epidermal Necrolysis	Polydipsia, Dysphagia, Abnormal vagina morphology	ORPHA:537
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Abnormal brainstem morphology, Cerebellar hypoplasia, Cerebellar atrophy, Intrauterine growth ret...	OMIM:301310
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abnormal hea...	ORPHA:438213
Pancreatic And Cerebellar Agenesis	Hypoglycemia, Diabetes mellitus, Hyperglycemia	OMIM:609069
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Cerebellar cyst, Abnormal pons morph...	ORPHA:370997
Cousin Syndrome	Microphthalmia, Hydranencephaly	OMIM:260660
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Prominent nasal tip	ORPHA:522077
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Rhinitis, Depressed nasal bridge, Underdeveloped nasal alae	OMIM:305100
Fanconi Anemia, Complementation Group C	Hearing impairment, Ventricular septal defect	OMIM:227645
Ctcf-Related Neurodevelopmental Disorder	Short columella, Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Cleft palate, B...	ORPHA:363611
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Sensorineural hearing impairment, Low-set ears, Posteriorly rotat...	OMIM:608670
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose	OMIM:252160
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Protruding ear, Conductive hearing impairment, Ventricular septal defect	ORPHA:1071
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Leprechaunism	Hyperinsulinemia, Hypokalemia, Fasting hypoglycemia, Increased circulating renin level, Hyperaldo...	ORPHA:508
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Liver Disease, Severe Congenital	Left atrial enlargement, Recurrent otitis media, Patent foramen ovale, Umbilical hernia, Dilatati...	OMIM:619991
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hydrocephalus, Abnormal palate morphology, Plagiocephaly, Short stature	ORPHA:3042
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia, Hypertyrosinemia	OMIM:124000
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Brachycephaly, Abnormal periodontium morphology, Tooth malposition, Gingival ove...	ORPHA:480880
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea	OMIM:308300
14Q22Q23 Microdeletion Syndrome	Short stature, Downturned corners of mouth, Brachycephaly	ORPHA:264200
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Microtia, Ventricular hypertrophy, Tricuspid stenosis, Pulmonic stenosis, Aortic valve stenosis, ...	OMIM:143095
Atypical Werner Syndrome	Hypertriglyceridemia, Hyperinsulinemia, Glycosuria, Hyperglycemia, Type II diabetes mellitus, Fas...	ORPHA:79474
Sotos Syndrome	Chronic otitis media, Aganglionic megacolon, Aortic aneurysm, Hearing impairment, Conductive hear...	ORPHA:821
Meckel Syndrome	Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris	ORPHA:564
Acromesomelic Dysplasia 1	Short nose	OMIM:602875
Roberts-Sc Phocomelia Syndrome	Hydrocephalus, Abnormal pinna morphology, Absent earlobe, Low-set ears, Posteriorly rotated ears,...	OMIM:268300
Isolated Permanent Neonatal Diabetes Mellitus	Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus	ORPHA:99885
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:616682
Scorpion Envenomation	Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia, Increased ...	ORPHA:466677
Common Variable Immunodeficiency	Brachycephaly, Anal atresia, Gastrointestinal stroma tumor	ORPHA:1572
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Hypertension, Hypotension, Abnormal autonomic nervous system physi...	ORPHA:93256
Holoprosencephaly 2	Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170
Trichothiodystrophy	Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Primary Sjögren Syndrome	Vaginal dryness, Abnormality of the peripheral nervous system, Chorea, Abnormal spinal cord morph...	ORPHA:289390
Geleophysic Dysplasia 2	Short nose	OMIM:614185
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Open mouth	OMIM:615273
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris	OMIM:133540
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Brachycephaly, Hydrocephalus, Esophageal varix, Growth delay, Gastric ulcer	ORPHA:2072
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Microphthalmia, Syndromic 6	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, High palate, Bifid uvula, Cleft palate...	OMIM:607932
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hyperammonemia, Hypoglycemia, Hyperglycemia, Wide nasal bridge	OMIM:220111
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly	ORPHA:45358
Neuroocular Syndrome	Lens coloboma, Hypoplasia of the fovea, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Death in childhood, Hypospadias, Rectovaginal fistula, Urethrovaginal fistu...	OMIM:243800
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Short philtrum, Narrow mouth, Short stature, Sagittal craniosynostosis	OMIM:620455
Mend Syndrome	Microphthalmia	ORPHA:401973
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Branchial cyst	OMIM:620186
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Cockayne Syndrome	Microphthalmia	ORPHA:191
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:468631
Lipodystrophy, Familial Partial, Type 7	Narrow nasal ridge, Short nose, Tinnitus, Low-set ears	OMIM:606721
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Aicardi-Goutières Syndrome	Short stature, Plagiocephaly	ORPHA:51
Chronic Graft Versus Host Disease	Anorexia, Phimosis, Dysphagia, Abnormal vagina morphology	ORPHA:99921
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Yunis-Varon Syndrome	Small earlobe, Patent foramen ovale, Microtia, Cardiomyopathy, Low-set ears, Sensorineural hearin...	OMIM:216340
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Vaginal stricture, Vaginal dryness, Oral-pharyngeal dysphagia, Abnormal penis morphology	ORPHA:95455
Primrose Syndrome	Delayed puberty, Brachycephaly, Thick lower lip vermilion, High palate, Narrow mouth, Short statu...	OMIM:259050
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Short stature, Plagiocephaly, Postnatal growth retardation	OMIM:613355
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Cloverleaf skull, Frontal bossing, Craniosynostosis, Anteriorly placed anus	OMIM:201750
Branchiooculofacial Syndrome	Branchial anomaly, Microphthalmia, Anophthalmia	OMIM:113620
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Vangl2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Vangl2.

No publications found that use IMPC mice or data for Vangl2.

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MGI Allele	Allele Type	Produced
Vangl2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Vangl2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Vangl2^{tm2e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Vangl2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Vangl2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Vangl2^{tm3a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Vangl2^{tm3e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Vangl2 MGI:2135272

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E14.5-E15.5

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Vangl2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.0 Data