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Gene: Mmachc MGI:1914346

Gene Summary

Name:

methylmalonic aciduria cblC type, with homocystinuria

Synonyms:

1810037K07Rik

Order Alleles

IMPC Data Collections

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
abnormal epididymis morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
facial cleft	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
preweaning lethality, incomplete penetrance	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	Early adult
small kidney	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
abnormal eye morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E12.5
preweaning lethality, complete penetrance	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	Early adult
abnormal lung morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
microphthalmia	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
polydactyly	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
edema	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
pallor	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
anophthalmia	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
abnormal embryo size	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5
enlarged lymph nodes	Mmachc^{tm1.1(NCOM)Mfgc}	HET	Early adult
abnormal craniofacial morphology	Mmachc^{tm1.1(NCOM)Mfgc}	HOM	E15.5

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Brain	N/A	heterozygote	50% (2 of 4)
Brain	N/A	homozygote	Ambiguous
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Ear	N/A	heterozygote	0.0% (0 of 4)
Ear	N/A	homozygote	Ambiguous
Embryo	N/A	heterozygote	100% (4 of 4)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	50% (2 of 4)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	0.0% (0 of 4)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	50% (2 of 4)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	50% (2 of 4)
Forelimb	N/A	homozygote	Ambiguous
Gut	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Handplate	N/A	heterozygote	0.0% (0 of 4)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	0.0% (0 of 4)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	50% (2 of 4)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	50% (2 of 4)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	50% (2 of 4)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	50% (2 of 4)
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	50% (2 of 4)
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	0.0% (0 of 4)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	50% (2 of 4)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	50% (2 of 4)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Oral cavity	N/A	heterozygote	50% (2 of 4)
Oral cavity	N/A	homozygote	Ambiguous
Chorioallantoic placenta	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Skeleton	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Skin	N/A	heterozygote	50% (2 of 4)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous
Tail somite	N/A	heterozygote	50% (2 of 4)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	0.0% (0 of 4)
Tail	N/A	homozygote	Ambiguous
Trachea	N/A	heterozygote	0.0% (0 of 2)
	N/A		Ambiguous
Urinary system	N/A	heterozygote	100% (2 of 2)
	N/A		Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	Ambiguous
brain	0.0%
central nervous system ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
gut	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
placenta	Ambiguous
skeleton	Ambiguous
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%
trachea	Ambiguous
urinary system	Ambiguous

Associated Images

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

Gross Pathology and Tissue Collection

Images

9 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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Gross Morphology Embryo E14.5-E15.5

Images

11 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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X-ray

XRay Images Hind Leg and Hip

1 Images

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Human diseases caused by Mmachc 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 Mmachc (2 diseases)
Human diseases predicted to be associated with Mmachc (1155 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Methylmalonic Aciduria And Homocystinuria, Cblc Type		Hydrocephalus, Pallor	OMIM:277400
Methylmalonic Acidemia With Homocystinuria, Type Cblc		Hydrops fetalis, Glossitis, Hydrocephalus, Atrophy of the spinal cord, Dehydration, Abnormal hear...	ORPHA:79282

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

Disease	Matching phenotypes	Source
Fryns Microphthalmia Syndrome	Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera...	OMIM:600776
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Deep palmar crease, Microphthalmia	OMIM:600251
Gombo Syndrome	Microphthalmia, Radial deviation of finger, Clinodactyly, Brachydactyly	OMIM:233270
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Anophthalmia	OMIM:611638
Anophthalmia Plus Syndrome	Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi...	ORPHA:1104
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Abnormal heart morphology, S...	ORPHA:294975
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Cerebrooculofacioskeletal Syndrome 3	Rocker bottom foot, Microphthalmia, Cleft palate, Intrauterine growth retardation, Edema, Talipes...	OMIM:616570
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Intestinal malrotation, Neonatal death, Cl...	OMIM:615524
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Holoprosencephaly, Foot oligodacty...	OMIM:601357
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the humerus, Aplasia/Hypoplasia affecting the eye, Camptodactyly of...	ORPHA:1794
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerve hypoplasia, Cleft p...	OMIM:607597
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Microphthalmia, Encephalocele, Anophthalmia, Pericardial ef...	OMIM:613885
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Anencephaly 2	Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate, Anophthalmia	OMIM:619452
Mosaic Trisomy 9	Rocker bottom foot, Microphthalmia, Intestinal malrotation, Intrauterine growth retardation, Olig...	ORPHA:99776
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Frontonasal Dysplasia 3	Tessier cleft, Microphthalmia, Cleft palate	OMIM:613456
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Microphthalmia, Sandal g...	OMIM:206920
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P...	OMIM:618167
Mmep Syndrome	Split foot, Orofacial cleft, Microphthalmia, Triphalangeal thumb	ORPHA:3434
Cerebrooculonasal Syndrome	Tessier cleft, Postaxial hand polydactyly, Anophthalmia	ORPHA:66625
Microphthalmia, Isolated 4	Postaxial polydactyly, Microphthalmia	OMIM:613094
Adams-Oliver Syndrome 4	Microphthalmia, Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes...	OMIM:615297
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Overlapping fingers, S...	ORPHA:952
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Cleft palate	OMIM:164180
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Immunodeficiency 75 With Lymphoproliferation	Lymphadenopathy, Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Follicular...	OMIM:619126
Hydrolethalus	Microphthalmia, Polyhydramnios, Anencephaly, Anophthalmia, Hydrocephalus, Postaxial hand polydact...	ORPHA:2189
Trisomy 13	Bilateral single transverse palmar creases, High, narrow palate, Microphthalmia, Hydrops fetalis,...	ORPHA:3378
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty...	ORPHA:93323
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, 2-3 toe syndactyly, Cleft palate, Abnormal heart morphology, Short 5th finger, Sma...	OMIM:239800
Frontofacionasal Dysplasia	Tessier cleft, Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Microphthalmia, Syndromic 8	Orofacial cleft, Microphthalmia, Premature skin wrinkling, Split foot, Cleft palate	OMIM:601349
2Q24 Microdeletion Syndrome	Microphthalmia, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenchi...	ORPHA:1617
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Acrofacial Dysostosis, Catania Type	Tessier cleft, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Spina ...	ORPHA:1786
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Microphthalmia, Hydrops fetalis, Hydrocephalus, Tracheoesophageal...	ORPHA:268249
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Median cleft palate	ORPHA:2432
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Trisomy 1Q	Hydrops fetalis, Polyhydramnios, Anophthalmia, Hydrocephalus, Anal atresia, Increased nuchal tran...	ORPHA:261344
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Meckel Syndrome, Type 4	Microphthalmia, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyl...	OMIM:611134
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia...	ORPHA:1647
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia, Micromelia	ORPHA:291
Eng-Strom Syndrome	Camptodactyly of finger, Brachydactyly, Intrauterine growth retardation, Ventricular septal defec...	ORPHA:1937
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Jawad Syndrome	Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy...	OMIM:251255
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Syndactyly, Brachydactyly	OMIM:610023
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Hartsfield Syndrome	Microphthalmia, Encephalocele, Non-midline cleft of the upper lip, Split hand, Lobar holoprosence...	ORPHA:2117
Frontonasal Dysplasia 1	Microphthalmia, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand po...	OMIM:136760
Bartsocas-Papas Syndrome 1	Microphthalmia, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly,...	OMIM:263650
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios, Anal atresia, Atrial septal defect, Ventricular septal defect, Ab...	ORPHA:3469
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Meckel Syndrome, Type 5	Occipital encephalocele, Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the l...	OMIM:611561
Meckel Syndrome, Type 2	Polydactyly, Microphthalmia, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly,...	OMIM:603194
Bardet-Biedl Syndrome 11	Polydactyly	OMIM:615988
17Q12 Microduplication Syndrome	Microphthalmia, Polyhydramnios, Finger syndactyly, Cleft palate, Toe syndactyly	ORPHA:261272
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Glossoptosis, Radial deviation of the 2nd finger, Camptodactyly o...	ORPHA:1388
Joubert Syndrome 18	Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft pa...	OMIM:614815
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Bilateral single transverse palmar creases, Microphthalmia, Broad thumb, Camptodac...	ORPHA:1236
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi...	ORPHA:2476
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Constricting Bands, Congenital	Tessier cleft, Ectopia cordis, Encephalocele, Hand polydactyly, Cleft palate, Syndactyly, Talipes...	OMIM:217100
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Proximal placement of thumb, Anophthalmia, Finger syndactyly, Postaxial foot poly...	ORPHA:139471
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Congenital Heart Block	Peripheral edema, Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, ...	ORPHA:60041
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Joubert Syndrome 22	Microphthalmia, 2-3 toe syndactyly, Postaxial hand polydactyly, Intrauterine growth retardation, ...	OMIM:615665
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Microphthalmia, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Cleft...	ORPHA:306542
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Intrauterine growth retardation,...	ORPHA:2515
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Feingold Syndrome Type 2	Ventricular septal defect, Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndac...	ORPHA:391646
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Pallor, A...	OMIM:609053
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Microphthalmia, Short thumb	OMIM:609054
Nanophthalmos 4	Microphthalmia	OMIM:615972
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios, Cleft palate, High palate	OMIM:615731
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Microphthalmia, Sandal gap, Abnormality of the upper ...	ORPHA:1106
Feingold Syndrome 2	Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Short middle phalanx of the 5th finge...	OMIM:614326
Bardet-Biedl Syndrome 7	Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly	OMIM:615984
Meckel Syndrome, Type 11	Polydactyly, Occipital encephalocele, Oligohydramnios	OMIM:615397
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Cleft palate	OMIM:120433
Biemond Syndrome Type 2	Preaxial polydactyly, Microphthalmia	ORPHA:141333
Sandestig-Stefanova Syndrome	Rocker bottom foot, Orofacial cleft, Perimembranous ventricular septal defect, Muscular ventricul...	OMIM:618804
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Unilateral Ocular Duplication	Midline facial cleft, Polyhydramnios, Cleft palate, Encephalocele	ORPHA:3374
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly	OMIM:248340
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Microphthalmia, Hydrocephalus, Syndactyly, Ventricular septal defect	OMIM:602501
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Esophageal atresia, Anophthalmia, Hydrocephalus, Tracheoesophageal fistula, Holop...	ORPHA:77298
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Bardet-Biedl Syndrome 10	Polydactyly	OMIM:615987
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Carpenter Syndrome	Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,...	ORPHA:65759
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Acropectoral Syndrome	Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx	OMIM:605967
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Abnormal finger morphology, Oligodactyly, Tracheoesophageal fistula, Intestinal m...	ORPHA:2538
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Vacterl With Hydrocephalus	Aqueductal stenosis, Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Esophageal atresia...	ORPHA:3412
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Orofacial cleft, Occipital encephalocele, Microphthalmia	ORPHA:324416
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Anencephaly, Encephalocele, Anophthalmia, Hydrocephalus, ...	ORPHA:564
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Bresek Syndrome	Microphthalmia, Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Postaxial hand poly...	ORPHA:85284
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic ste...	OMIM:601186
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft...	ORPHA:1908
Fraser Syndrome 1	Tessier cleft, Bilateral microphthalmos, Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocep...	OMIM:219000
Retinitis Pigmentosa 51	Polydactyly, Pallor	OMIM:613464
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Microphthalmia, Patent foramen ovale, Prominent fingertip pads, Increased nu...	OMIM:618494
Orofaciodigital Syndrome Xviii	Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac...	OMIM:617927
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Hb Bart'S Hydrops Fetalis	Hydrops fetalis, Pallor, Polyhydramnios, Oligohydramnios	ORPHA:163596
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Ascites, Cardiomegaly, Intrauterine growth retardation	ORPHA:858
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Rhizomelia, Metaphyseal cupping, Hypoplastic iliac wing, Hypoplasia of the calcan...	OMIM:300863
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Intrauterine growth retardation, Microphthalmia, Talipes equinovarus	OMIM:616171
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Microphthalmia, Polyhydramnios, Symphalangism affecting the phalanges of...	ORPHA:2547
Braddock-Carey Syndrome 2	Microphthalmia, Cleft palate, Clinodactyly	OMIM:619981
Breath-Holding Spells	Pallor	OMIM:607578
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Bartsocas-Papas Syndrome 2	Microphthalmia, Bilateral cleft palate, Absent distal phalanges, 2-5 finger cutaneous syndactyly,...	OMIM:619339
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car...	OMIM:608180
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Microphthalmia, Absent radius, Oligodactyly, Forearm undergrowth, Micromelia...	OMIM:251230
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Ventricular septal defect, High palate, Bilateral talipes equinovarus, Post...	OMIM:618142
Curry-Jones Syndrome	Microphthalmia, Finger syndactyly, Broad thumb, Foot polydactyly, Abnormality of thumb phalanx, P...	ORPHA:1553
Pierpont Syndrome	Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Excessive wrinkling o...	ORPHA:487825
Fetal Minoxidil Syndrome	Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia	ORPHA:1918
Myopathic Ehlers-Danlos Syndrome	Congenital bilateral hip dislocation, Shoulder flexion contracture, Elbow flexion contracture, Co...	ORPHA:536516
Temtamy Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum	ORPHA:1777
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Cleft palate, Anophthalmia	OMIM:610125
Frontonasal Dysplasia 2	Microphthalmia, Encephalocele, Tessier number 13 facial cleft, Intrauterine growth retardation, O...	OMIM:613451
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Pallister-Hall Syndrome	Microphthalmia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Synda...	OMIM:146510
Cofs Syndrome	Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia	ORPHA:1466
Isolated Arrhinia	Tessier cleft, Microphthalmia	ORPHA:1134
3P25.3 Microdeletion Syndrome	High, narrow palate, Microphthalmia, Proximal placement of thumb, Acromesomelia, Pyloric stenosis...	ORPHA:435638
Treacher-Collins Syndrome	Tessier cleft, Microphthalmia, Rectovaginal fistula, Encephalocele, High palate, Glossoptosis, Tr...	ORPHA:861
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Mesoaxial han...	OMIM:615996
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Microphthalmia, Rhizomelia, Proximal placement of thumb, Bowing o...	ORPHA:93267
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Holoprosencephaly	Spinal cord tumor, Microphthalmia, Encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly,...	ORPHA:2162
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia, Hydrocephalus, Bifid uvula, Cleft palate, Metatarsus valgus, Submuc...	ORPHA:899
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Pallor	OMIM:606353
Cat-Eye Syndrome	Intrauterine growth retardation, Microphthalmia, Hip dysplasia	ORPHA:195
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Pallor, Ventricular septal defect	ORPHA:49827
Pierpont Syndrome	Short finger, Microphthalmia, Deep palmar crease, Prominent fingertip pads, Short palm, Short toe...	OMIM:602342
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Moebius Syndrome	Microphthalmia, Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, C...	OMIM:157900
Microphthalmia, Syndromic 2	Microphthalmia, Sandal gap, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve p...	OMIM:300166
Oculofaciocardiodental Syndrome	Microphthalmia, Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, Delayed e...	ORPHA:2712
Optic Atrophy 1	Pallor	OMIM:165500
Septooptic Dysplasia	Polydactyly, Short finger, Optic nerve hypoplasia, Optic disc hypoplasia	OMIM:182230
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Meckel diverticulum, Single tra...	OMIM:311900
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Cleft palate, Syndactyly	OMIM:300484
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Encephalocele, Midline facial cleft, Optic nerve hypoplasia, Mesomelic leg s...	OMIM:603671
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Microphthalmia, Single t...	OMIM:244300
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Pneumonia, Absent ton...	OMIM:602450
Cerebrooculonasal Syndrome	Narrow palate, Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia, High palate, P...	OMIM:605627
Mosaic Trisomy 1	Rocker bottom foot, Microphthalmia, Broad 2nd toe, Arachnodactyly, Long toe, Deviation of the 5th...	ORPHA:1692
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia, Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Metaphyseal cup...	ORPHA:163966
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Neonatal death, Ventricular septal defect	OMIM:613730
Neurooculocardiogenitourinary Syndrome	Redundant neck skin, Microphthalmia, Abnormality of the palmar creases, Patent foramen ovale, Car...	OMIM:618652
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Pallor, Hypertrophic cardiomyopathy	OMIM:613561
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot	OMIM:125520
Congenital Rubella Syndrome	Abnormal metaphysis morphology, Microphthalmia, Aplasia/Hypoplasia of the iris, Intrauterine grow...	ORPHA:290
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Hand polydactyly, Atrial septal defect, Ventricular septal defect, Abnormal 3r...	OMIM:249670
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Cleft soft pa...	ORPHA:2756
Hemoglobin D Disease	Pallor	ORPHA:90039
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Craniotelencephalic Dysplasia	Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Al-Gazali-Bakalinova Syndrome	Polydactyly, Genu valgum, Lymphedema, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Ta...	OMIM:607131
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Ventricular se...	OMIM:601355
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Upper limb undergrowth, Median cleft palate, Short 3rd metacar...	OMIM:169400
Pelvis-Shoulder Dysplasia	Microphthalmia, Clinodactyly of the 5th finger, Spina bifida occulta, Hypoplastic acetabulae, Sho...	OMIM:169550
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Bilateral microphthalmos, Prominent protruding coccyx, Hydranenc...	ORPHA:2839
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly, Occipital encephalocele	OMIM:213010
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Encephalocele, Hydrocephalus, 2-3 toe syndactyly...	OMIM:264480
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor, Syndactyly	OMIM:615631
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect, Abnormal hand morphology	OMIM:122850
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda...	OMIM:614175
Orofaciodigital Syndrome Xvii	Polydactyly, High, narrow palate, Clubbing of fingers, Central Y-shaped metacarpal, Partial dupli...	OMIM:617926
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	High, narrow palate, Tricuspid valve prolapse, Aniridia, Anophthalmia, Camptodactyly of finger, U...	ORPHA:1101
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Sandal gap, Joint contracture of the 5th finger, Patent foramen ovale, 2-3 toe sy...	OMIM:618914
Cousin Syndrome	Microphthalmia, Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypopl...	OMIM:260660
Adams-Oliver Syndrome	Microphthalmia, Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Abnorma...	ORPHA:974
Duane-Radial Ray Syndrome	Microphthalmia, Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absen...	OMIM:607323
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica...	OMIM:201000
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Broad distal phalanx of finger, 2-3 toe syndactyly, Intestinal malrotation, Posta...	ORPHA:404440
Cockayne Syndrome Type 2	Intrauterine growth retardation, Delayed eruption of primary teeth, Anophthalmia	ORPHA:90322
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Hydrops fetalis, Short long bone, Flat acetabular roof, Bowing of the long bones, As...	OMIM:614091
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect	OMIM:300887
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Sonoda Syndrome	Ventricular septal defect, High axial triradius	OMIM:270460
Trisomy 18	Narrow palate, Bilateral single transverse palmar creases, Microphthalmia, Anencephaly, Esophagea...	ORPHA:3380
Holoprosencephaly 1	Tessier cleft, Microphthalmia, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Singl...	OMIM:236100
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Intrauterine growth retardation, Microphthalmia, Flexion contracture of toe, Finger joint contrac...	ORPHA:48431
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele...	ORPHA:93322
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Small placenta, Clinodactyly of the 5th finger, Ectrodactyly, Cleft palate, Syndacty...	ORPHA:397590
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Short metacarpal, Myelomeningocele, Intestinal malrotation, Split foot,...	OMIM:305600
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Glossoptosis, Epiphyseal stippling	OMIM:614876
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Toe syndactyly, Ventricular septal defect, High palate	ORPHA:261120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Matthew-Wood Syndrome	Intrauterine growth retardation, Microphthalmia, Anophthalmia	ORPHA:2470
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of u...	ORPHA:163649
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Bilateral microphthalmos, Flexion contracture of toe, Flared metaphysis, Disl...	OMIM:610758
Joubert Syndrome 14	Microphthalmia, Encephalocele, Meningocele, Hydrocephalus, Postaxial polydactyly, Cleft palate, V...	OMIM:614424
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Anal atresia, Aortic valve stenosis, Pulmonic stenosis, Cleft palate, Tetralogy of...	OMIM:220210
Joubert Syndrome 40	Postaxial polydactyly, Optic nerve hypoplasia	OMIM:619582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus, Microphthalmia, Macroglossia, Cardiomyopathy	OMIM:613155
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:615877
Neu-Laxova Syndrome 1	Rocker bottom foot, Microphthalmia, Radial deviation of finger, Intrauterine growth retardation, ...	OMIM:256520
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Cleft palate	ORPHA:1135
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br...	OMIM:113000
Polysyndactyly With Cardiac Malformation	Stillbirth, Polyhydramnios, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydacty...	OMIM:263630
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular...	OMIM:617102
Nevus Comedonicus Syndrome	Preaxial polydactyly, Spina bifida occulta, Finger syndactyly, Spina bifida, Toe syndactyly	ORPHA:64754
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydrops fetalis, Polyhydramnios, Flared metaphysis, Pleural effusion, Ascites, Hypertrophic cardi...	OMIM:616897
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Ventricular septal de...	OMIM:620393
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia, Cubitus valgus, Down-sloping shoulders, Camptodactyly	OMIM:619694
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Bilateral cleft palate, Microphthalmia	ORPHA:1473
Chromosome 13Q33-Q34 Deletion Syndrome	Advanced eruption of teeth, Microphthalmia, Anencephaly, Encephalocele, Delayed eruption of teeth...	OMIM:619148
Congenital Sialidosis Type 2	Polydactyly, Petechiae, Hydrocephalus, Ascites, Protruding tongue, Abnormal heart morphology, Hyp...	ORPHA:93400
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Ectopic anus, Aplasia/Hypoplasia of the d...	ORPHA:94066
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Ectopic anus, Anal atresia, Spina bifida, Cleft palate, Ventricular...	ORPHA:2345
Short-Rib Thoracic Dysplasia 12	Anencephaly, Short long bone, Ascites, Intestinal malrotation, Intrauterine growth retardation, E...	OMIM:269860
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, M...	OMIM:616300
Chromosome 3Pter-P25 Deletion Syndrome	Atrioventricular canal defect, High palate, Anal atresia, Postaxial polydactyly, Intrauterine gro...	OMIM:613792
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Meckel Syndrome, Type 3	Polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot po...	OMIM:607361
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Esophageal atresia, Cleft soft palate, Broad thumb, Brachydactyly, Atrial septal ...	OMIM:614526
Meckel Syndrome 14	Occipital encephalocele, Microphthalmia, Postaxial hand polydactyly, Bowing of the long bones, In...	OMIM:619879
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Tyshchenko Syndrome	Narrow palate, High, narrow palate, Polyhydramnios, High palate, Pulmonic stenosis, Cleft palate,...	OMIM:615102
American Trypanosomiasis	Myocarditis, Aganglionic megacolon, Cardiomyopathy, Periorbital edema, Edema, Pallor	ORPHA:3386
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Polyhydramnios, Short long bone, Brachydactyly	OMIM:615633
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,...	ORPHA:264200
Indomethacin Embryofetopathy	Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:1909
1Q21.1 Microdeletion Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, High palate, Ankyloglossia, Broad ...	ORPHA:250989
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Microphthalmia, Clinodactyly of the 5th finger, Absent radius, Aplasia/Hy...	ORPHA:1352
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, Tibial bowing, High palate, Tongue nodules, Postaxia...	OMIM:277170
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Cleft palate, Brachydact...	OMIM:258860
Lissencephaly 8	Occipital encephalocele, Microphthalmia, Talipes equinovarus	OMIM:617255
Marden-Walker Syndrome	High, narrow palate, Microphthalmia, Dextrocardia, High palate, Camptodactyly, Pyloric stenosis, ...	OMIM:248700
Bardet-Biedl Syndrome 16	Polydactyly	OMIM:615993
Verheij Syndrome	Optic nerve hypoplasia, Truncus arteriosus, Clinodactyly, Cleft palate, Intrauterine growth retar...	OMIM:615583
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia, Tapered finger, Sandal gap	ORPHA:1438
Charge Syndrome	Polydactyly, Aqueductal stenosis, Microphthalmia, Abnormal aortic valve morphology, Abnormal tibi...	ORPHA:138
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Microphthalmia, Rhizomelia, Flared metaphysis, Short long bone, Met...	ORPHA:85167
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, High, narrow palate, Truncus arteriosus, Short distal...	ORPHA:2516
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Bilateral microphthalmos, Patent foramen ovale, High palate, Ventricular...	ORPHA:369891
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Congenital Disorder Of Glycosylation, Type Iil	Hydrocephalus, Esophageal varix, Peau d'orange, Dry skin, Postaxial polydactyly, Inflammation of ...	OMIM:614576
Diabetic Embryopathy	Transposition of the great arteries, Hydrocephalus, Aplasia/Hypoplasia affecting the eye, Cleft p...	ORPHA:1926
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Microphthalmia, Second metatarsal posteriorly placed, Elbow flexion contractu...	OMIM:214150
Bardet-Biedl Syndrome 22	Polydactyly, Postaxial foot polydactyly	OMIM:617119
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema, Cerebral edema	ORPHA:439218
2Q31.1 Microdeletion Syndrome	Abnormal fibula morphology, Microphthalmia, Abnormal tibia morphology, Abnormal metacarpal morpho...	ORPHA:251014
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Warburg Micro Syndrome 1	Overlapping toe, Microphthalmia	OMIM:600118
Hyperinsulinism Due To Ucp2 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Suleiman-El-Hattab Syndrome	Polydactyly, Single transverse palmar crease, Patent foramen ovale, High palate, Brachydactyly, A...	OMIM:618950
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb b...	ORPHA:2788
Cat Eye Syndrome	Rectal fistula, Anal stenosis, Tricuspid atresia, Microphthalmia, Meckel diverticulum, Ventricula...	OMIM:115470
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Microphthalmia, Skin ulcer, Anophthalmia, Chylothorax, Lymphedema, Pleural effusion...	ORPHA:2526
Roberts Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Radial deviation of finger, Mesomelic...	ORPHA:3103
Monosomy 18P	Microphthalmia, Cleft palate, Brachydactyly, Lymphedema	ORPHA:1598
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Slender long bone, Flared metaphysis, Ascites, Brachydactyly	OMIM:602361
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Cutan...	OMIM:600987
Curry-Jones Syndrome	Microphthalmia, Anal stenosis, Intestinal pseudo-obstruction, Triphalangeal hallux, Lipomyelomeni...	OMIM:601707
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect	ORPHA:1296
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Microphthalmia, Proximal placement of thumb, Hypoplastic pubic r...	OMIM:609945
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sandal gap, Ectopic anus, High palate, Camptodactyly of toe, Cleft pala...	ORPHA:251038
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Ventricular septal defect, Postaxial hand polydactyly, Abnormal cardiac septum mor...	ORPHA:83473
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Pyloric stenosis, Pulmonic stenosis, Overlapping toe, Atrial septal defect, Ventri...	OMIM:614262
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v...	ORPHA:3099
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Camptodactyly of finger, Microphthalmia, Rocker bottom foot	OMIM:610756
Frontorhiny	Microphthalmia, Encephalocele, Camptodactyly of finger, Cleft palate, Basal encephalocele, Brachy...	ORPHA:391474
Roifman Syndrome	Clinodactyly of the 5th finger, Noncompaction cardiomyopathy, Single transverse palmar crease, Sh...	OMIM:616651
Holt-Oram Syndrome	Atrioventricular canal defect, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndac...	ORPHA:392
Cohen Syndrome	High, narrow palate, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Slend...	ORPHA:193
Charge Syndrome	Microphthalmia, Tracheoesophageal fistula, Absent tibia, Pulmonic stenosis, Abnormal palmar derma...	OMIM:214800
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Duodenal atresia, Finger syndactyly, Short clavicles, Spl...	ORPHA:2092
Diamond-Blackfan Anemia 1	Atrial septal defect, Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, High p...	OMIM:105650
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydac...	OMIM:235750
Pentalogy Of Cantrell	Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Non-midlin...	ORPHA:1335
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Hypertrophic cardiomyopathy, Protruding tongue, Bifid uvula, Cleft palate, Brachyd...	OMIM:612938
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Galloway-Mowat Syndrome 7	Cubitus valgus, Hallux valgus, Single transverse palmar crease, High palate, Arachnodactyly, Part...	OMIM:618348
Coenzyme Q10 Deficiency, Primary, 7	Intrauterine growth retardation, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplas...	OMIM:616276
Adams-Oliver Syndrome 2	Microphthalmia, Single transverse palmar crease, Absent distal phalanges, Short middle phalanx of...	OMIM:614219
Hydrolethalus Syndrome 1	Stillbirth, Microphthalmia, Polyhydramnios, Anencephaly, Talipes equinovarus, Upper limb undergro...	OMIM:236680
Dravet Syndrome	Pallor, Tibial torsion	ORPHA:33069
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia...	OMIM:274000
Filippi Syndrome	Single transverse palmar crease, Ventricular septal defect, Cutaneous syndactyly, 2-4 toe syndact...	OMIM:272440
3C Syndrome	Orofacial cleft, High, narrow palate, Atrioventricular canal defect, Abnormal tricuspid valve mor...	ORPHA:7
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Polydactyly, Upper limb asymmetry, High palate, Clinodactyly of the 5th finger	ORPHA:231140
Phaver Syndrome	Triphalangeal thumb, Myelomeningocele, Broad thumb, Camptodactyly of finger, Short thumb, Radioul...	ORPHA:2876
Nephronophthisis 15	Polydactyly	OMIM:614845
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, 4-5 finger syndactyly, Cl...	OMIM:617201
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Encepha...	ORPHA:90652
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Single transverse palmar crease, High palate, Hypertrophic cardiomyopathy, Oligoh...	OMIM:619053
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Delayed eruption of permanent teeth, Ventricular septal defect, Clinodactyly ...	OMIM:618506
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Sandal gap, High palate, Cleft palate, Holoprosencephaly, 3-4 finger cutaneous sy...	OMIM:612530
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Microphthalmia, Polyhydramnios, Encephalocele, Hydrocephalus, Postaxial hand pol...	ORPHA:2166
Baraitser-Winter Syndrome 2	Orofacial cleft, Microphthalmia	OMIM:614583
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Tetralogy of Fallot, Atria...	ORPHA:261243
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Split hand,...	ORPHA:2008
Deafness-Lymphedema-Leukemia Syndrome	Pallor, Lymphedema	ORPHA:3226
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Evans Syndrome	Petechiae, Pallor	ORPHA:1959
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Transposition of the great arteries, High palate, Tet...	ORPHA:1913
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl...	OMIM:619721
Histiocytoid Cardiomyopathy	Pulmonary edema, Microphthalmia, Hydrocephalus, Congenital aphakia, Cleft palate, Cardiomegaly, P...	ORPHA:137675
Noonan Syndrome 12	Polyhydramnios, Proximal placement of thumb, Tetralogy of Fallot, Ventricular septal defect, Ante...	OMIM:618624
Lethal Congenital Contracture Syndrome 10	Narrow palate, Overlapping fingers, Adducted thumb, Hydrops fetalis, Femoral bowing, High palate,...	OMIM:617022
Bardet-Biedl Syndrome 17	Polydactyly, Situs inversus totalis, Dextrocardia, Mesoaxial polydactyly, Postaxial hand polydact...	OMIM:615994
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor, Nonimmune hydrops fetalis	OMIM:266200
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Microphthalmia, Cardiac rhabdomyoma, Palmar pits, Hydrocephalu...	OMIM:109400
Fetal Alcohol Syndrome	Microphthalmia, Non-midline cleft of the upper lip, Cleft palate, Intrauterine growth retardation...	ORPHA:1915
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Short finger, Microphthalmia, Ventricular septal hypertrophy, Aplasia of the distal phalanx of th...	OMIM:608670
Heart And Brain Malformation Syndrome	High, narrow palate, Microphthalmia, Polyhydramnios, Camptodactyly of finger, Hand clenching, Ven...	OMIM:616920
Holoprosencephaly 9	Microphthalmia, Alobar holoprosencephaly, Short hard palate, Bilateral cleft palate, Hydrocephalu...	OMIM:610829
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Ventricular hypertrophy, Bifid uvula, Cleft palate, Tetralogy of Fallot, Mit...	OMIM:612561
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Abnormal intestine morphology...	ORPHA:2369
Basel-Vanagaite-Smirin-Yosef Syndrome	Overlapping fingers, High, narrow palate, Microphthalmia, Finger syndactyly, Single transverse pa...	ORPHA:464738
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe, Hydrocephalus, Postaxial polydactyly, Atrial septal defect, Ventricular s...	OMIM:603387
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Ivic Syndrome	Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H...	OMIM:147750
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,...	OMIM:618870
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Anophthalmia, Microphthalmia	ORPHA:2250
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Overlapping fingers, Redundant neck skin, Polyhydramnios, Deep palmar crease,...	OMIM:301056
Insulin-Like Growth Factor I, Resistance To	Short finger, Radial deviation of finger, Sandal gap, Patent foramen ovale, High palate, Short fo...	OMIM:270450
Senior-Loken Syndrome 8	Polydactyly, Pallor	OMIM:616307
Martsolf Syndrome 1	Microphthalmia, Slender ulna, Talipes equinovarus, Cardiomyopathy, Short metacarpal, High palate,...	OMIM:212720
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Hypoplastic iliac wing, Nonimmune hydrops fetalis, Um...	OMIM:235510
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Upper limb asymmetry, Cleft palate, Umbilical hernia, Edema	ORPHA:2505
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Membranous subvalvular aortic stenosi...	ORPHA:3191
Orofaciodigital Syndrome V	Aganglionic megacolon, Sandal gap, High palate, Ventricular septal defect, Ankyloglossia, Postaxi...	OMIM:174300
Fanconi Anemia	Microphthalmia, Abnormal femur morphology, Meckel diverticulum, Abnormality of the upper limb, Tr...	ORPHA:84
8P23.1 Duplication Syndrome	Pulmonic stenosis, Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Joubert Syndrome 16	Polydactyly, Encephalocele	OMIM:614465
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, Intestinal ma...	ORPHA:401935
Beta-Thalassemia	Pallor, Skin ulcer, Hypertrophic cardiomyopathy	ORPHA:848
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Abnormal heart morphology, Hip dysplasia, Intrauterine growth retardation, Ventri...	ORPHA:494344
Fanconi Anemia, Complementation Group R	Microphthalmia, Radial dysplasia, Hydrocephalus, Tethered cord, Anal atresia, Absent thumb	OMIM:617244
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal metaphysis morphology, Hydrops fetalis, Esophageal atresia, Abnormal pelv...	ORPHA:93271
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Microphthalmia, Radial club hand, Triphalangea...	ORPHA:959
Bohring-Opitz Syndrome	Narrow palate, Polyhydramnios, Deep palmar crease, Dislocated radial head, Bilateral cleft palate...	OMIM:605039
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Polyhydramnios, Rhizomelia, Epiphyseal stippling, Stippled calcification in carpa...	OMIM:302960
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, High palate, Broad thumb, Arachnodactyly, Toe syndactyly...	ORPHA:505237
ERI1-related disease	Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Hi...	OMIM:608739
Lambotte Syndrome	Intrauterine growth retardation, Semilobar holoprosencephaly, Ventricular septal defect, Preaxial...	OMIM:245552
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Narrow greater sciatic notch, Short finger, Microphthalmia, Rhizomelia, Flared metaphysis, Metaph...	OMIM:608940
Yunis-Varon Syndrome	Rocker bottom foot, Redundant neck skin, Microphthalmia, Abnormal finger morphology, Glossoptosis...	ORPHA:3472
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallot, Ventricular septal def...	OMIM:615779
Short Stature-Micrognathia Syndrome	Rhizomelia, 2-3 toe syndactyly, High palate, Broad femoral neck, Cleft palate, Large hands, Metap...	OMIM:617164
Fliedner-Zweier Syndrome	Meningocele, High palate, Tethered cord, Anal atresia, Tracheoesophageal fistula, Bicuspid aortic...	OMIM:620511
Temtamy Syndrome	Microphthalmia, Short 2nd toe, Brachydactyly, Talipes equinovarus, Hip dislocation	OMIM:218340
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Microphthalmia, Oligohydramnios, Encephalocele	ORPHA:228390
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology, Cleft palate, Autoamputation of digits, Honeycomb palmoplantar h...	ORPHA:494
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hydrocephalus, Triceps weakn...	ORPHA:99947
Char Syndrome	Clinodactyly of the 5th finger, Symphalangism of the 5th finger, Mesoaxial foot polydactyly, Shor...	ORPHA:46627
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Hydrops fetalis, Polyhydramnios, Anencephaly, Hydrocephalus, Micromelia, Po...	OMIM:616546
Oculoauriculofrontonasal Syndrome	Cleft palate, Ventricular septal defect, Encephalocele	ORPHA:398156
Fanconi Anemia, Complementation Group C	Microphthalmia, Absent radius, Anemic pallor, Complete duplication of thumb phalanx, Absent thumb...	OMIM:227645
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Polyhydramnios, Finger syndactyly, Aplasia of the proximal phalanges of t...	ORPHA:2256
Teebi-Shaltout Syndrome	Rocker bottom foot, High, narrow palate, Caudal appendage, Microphthalmia, Single transverse palm...	OMIM:272950
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Non-midline cleft of the upper lip, Broad thumb, Clef...	ORPHA:1770
9Q21.13 Microdeletion Syndrome	Polydactyly, Syringomyelia, Abnormal tongue morphology, Abnormal heart morphology, Hip dysplasia	ORPHA:531151
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Abnormal palmar dermatoglyphics, Cleft palate, Intrauterine growth retardation, A...	ORPHA:2728
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor, High palate, Scapular winging	OMIM:600462
Refsum Disease	Microphthalmia, Hammertoe, Short metacarpal, Dry skin, Abnormal epiphysis morphology	ORPHA:773
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, ...	OMIM:615630
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Cardiomyopathy, M...	ORPHA:370959
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Microphthalmia, Hypoplast...	OMIM:617925
Primary Myelofibrosis	Petechiae, Purpura, Ecchymosis, Pallor	ORPHA:824
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Furrowed tongue...	OMIM:616449
Congenital Disorder Of Glycosylation, Type Iq	Cutis laxa, Microphthalmia, Dry skin	OMIM:612379
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Broad thumb, Bicuspid aortic valve, Short 5th finger, Ove...	ORPHA:508498
Microphthalmia, Syndromic 3	Microphthalmia, Esophageal atresia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ve...	OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Fraser Syndrome	Orofacial cleft, Microphthalmia, Anal stenosis, Encephalocele, Anophthalmia, Finger syndactyly, E...	ORPHA:2052
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Pulmonic stenosis, Aplasia o...	OMIM:142900
Myoclonic-Astatic Epilepsy	Microphthalmia, Premature skin wrinkling, Syndactyly	ORPHA:1942
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Meningocele, Short hard palate, Hydranencephaly, Glossoptosis, My...	ORPHA:1393
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Polyhydramnios, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus...	OMIM:612651
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short long bone...	OMIM:613091
Seckel Syndrome 2	Microphthalmia, Clinodactyly of the 5th finger	OMIM:606744
Baraitser-Winter Syndrome 1	Orofacial cleft, Microphthalmia, Aortic valve stenosis, Duplication of phalanx of hallux, Bicuspi...	OMIM:243310
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Retinitis Pigmentosa 89	Bicuspid aortic valve, Esophageal varix, Postaxial polydactyly	OMIM:618955
Aase-Smith Syndrome I	Hydrocephalus, Slender finger, Cleft palate, Ventricular septal defect, Talipes equinovarus	OMIM:147800
Degcags Syndrome	Microphthalmia, Pulmonic stenosis, Syndactyly, Intrauterine growth retardation, Polydactyly, Pate...	OMIM:619488
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Cleft palate, Tetralogy of Fallot, Abnormal hip bone morphology	ORPHA:1166
Emanuel Syndrome	Hydrocephalus, Truncus arteriosus, High palate, Anal atresia, Congenital hip dislocation, Intesti...	OMIM:609029
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	High palate, Broad thumb, Down-sloping shoulders, Intrauterine growth retardation, Overlapping to...	OMIM:617452
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microphthalmia, Polyhydramnios, Absent thumb, 2-3 finger syndactyly, Sh...	OMIM:603467
Fryns Syndrome	Microphthalmia, Aganglionic megacolon, Clinodactyly of the 5th finger, Polyhydramnios, Abnormal c...	ORPHA:2059
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect, High palate, Clinodactyly of the 5th finger	OMIM:314320
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Cleft palate, Ventricular septal defect	OMIM:616898
Lymphedema-Distichiasis Syndrome	Microphthalmia, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Cleft palate, Tetra...	OMIM:153400
Kapur-Toriello Syndrome	Orofacial cleft, Microphthalmia, Intestinal malrotation, Tetralogy of Fallot, Ventricular septal ...	ORPHA:2328
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad thumb, Preaxial hand polydactyly, Broad hallux phalanx, E...	ORPHA:2211
Diamond-Blackfan Anemia 7	Polyhydramnios, Triphalangeal thumb, Esophagitis, Secundum atrial septal defect, Cleft palate, Te...	OMIM:612562
Meckel Syndrome, Type 1	Occipital encephalocele, Microphthalmia, Radial deviation of finger, Anencephaly, Intestinal malr...	OMIM:249000
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Emanuel Syndrome	Redundant neck skin, Delayed eruption of teeth, Hydrocephalus, Ectopic anus, Truncus arteriosus, ...	ORPHA:96170
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Microphthalmia, Clinodactyly of the 5th finger, Anophthalmi...	OMIM:607932
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemic pallor, Complete duplication of thumb phalanx, Absent thumb, Short thumb, ...	OMIM:600901
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr...	OMIM:618719
19P13.3 Microduplication Syndrome	Hip subluxation, Long fingers, Cleft palate, Hip dysplasia, Intrauterine growth retardation, Vent...	ORPHA:447980
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Microphthalmia, Anophthalmia, Hydrocephalus, Abnormal rectum morphology...	ORPHA:2556
Hadziselimovic Syndrome	Ventricular hypertrophy, High palate, Anal atresia, Tetralogy of Fallot, Atrial septal defect, Ve...	OMIM:612946
Irida Syndrome	Pallor	ORPHA:209981
Adams-Oliver Syndrome 1	Microphthalmia, Encephalocele, Pulmonic stenosis, Aortic valve stenosis, Cleft palate, Tetralogy ...	OMIM:100300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Intrauterine growth retardation, Ventricular septal defect, Micromelia, Hypoplastic left heart	ORPHA:2772
C Syndrome	Radial deviation of finger, Dislocated radial head, High palate, Short metacarpal, Postaxial hand...	OMIM:211750
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly	OMIM:614970
Diamond-Blackfan Anemia	Atrial septal defect, Abnormality of the thenar eminence, Triphalangeal thumb, Cleft soft palate,...	ORPHA:124
Genitopalatocardiac Syndrome	Double outlet right ventricle, Transposition of the great arteries, Cleft palate, Ventricular sep...	OMIM:231060
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, High palate, Fifth finger distal phalanx clinodactyly	ORPHA:3369
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Fanconi Anemia, Complementation Group D2	Microphthalmia, Esophageal atresia, Hydrocephalus, Anemic pallor, Tracheoesophageal fistula, Apla...	OMIM:227646
Esophageal Atresia	Polyhydramnios, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Intestinal malrotation...	ORPHA:1199
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Braddock-Carey Syndrome 1	Camptodactyly, Cleft palate, Small hand, Ventricular septal defect, Aortic valve prolapse, Clinod...	OMIM:619980
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Joint contracture of the hand, Polyhydramnios, Deep palmar crease, Clinodactyly of t...	OMIM:247200
Contractural Arachnodactyly, Congenital	Limited elbow extension, Elbow flexion contracture, High palate, Wrist flexion contracture, Conge...	OMIM:121050
Mend Syndrome	Microphthalmia, Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve stenosis, Hand polyd...	ORPHA:401973
Joubert Syndrome 37	Postaxial polydactyly, Microphthalmia	OMIM:619185
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Microphthalmia, Short first metatarsal, Ulnar bowing, Epiphyseal stipplin...	OMIM:619135
Purine Nucleoside Phosphorylase Deficiency	Recurrent lower respiratory tract infections, Elevated urinary inosine level, Decreased urinary u...	OMIM:613179
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Finger clinodactyly, Mesoaxial polydactyly, High palate, Tongue nodules, Ce...	ORPHA:2754
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Long toe, Patent foramen ovale, Cutaneous syndactyly, Intestinal malrotat...	OMIM:618316
Stevenson-Carey Syndrome	Microphthalmia, Camptodactyly, Hip dysplasia, Atrial septal defect, Joint contracture of the hand	OMIM:611961
Stromme Syndrome	Stillbirth, Preaxial polydactyly, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Intestin...	OMIM:243605
Nephrotic Syndrome, Type 11	High palate, Arachnodactyly, Partial duplication of thumb phalanx, Cleft palate, Dilated cardiomy...	OMIM:616730
Garg-Mishra Progeroid Syndrome	Microphthalmia, Slender long bone, Slender metacarpals, Broad palm, Coxa valga	OMIM:620601
Spondylo-Ocular Syndrome	Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens	ORPHA:85194
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Polydactyly, Short long bone, Brachydactyly	OMIM:613819
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Cleft palate, Right ventricular hypertrophy, Brachydactyly, Short distal ph...	OMIM:614261
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Short thumb, Brachydactyly, Ventricular septal defect	ORPHA:3449
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, 2-3 toe syndactyly, High palate, Tetralogy of Fallot, Brachydacty...	ORPHA:3306
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Abnormal spinal cord morphology, Skin ulcer, Acral ulceration	ORPHA:139578
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Polyhydramnios, Short long bone, Femoral bowing, Acetabular spurs, Postaxia...	OMIM:615503
Joubert Syndrome 7	Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly, Encephalocele	OMIM:611560
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap	OMIM:615761
Chromosome 5Q12 Deletion Syndrome	Long toe, Patent foramen ovale, Ventricular septal defect, Increased nuchal translucency, Long fi...	OMIM:615668
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Anal atresia	OMIM:619318
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy...	OMIM:617895
Fumarase Deficiency	Perimembranous ventricular septal defect, Polyhydramnios, Necrotizing enterocolitis, High palate,...	OMIM:606812
Cockayne Syndrome Type 1	Delayed eruption of primary teeth, Anophthalmia	ORPHA:90321
Warsaw Breakage Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, High palate,...	OMIM:613398
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Sandal gap, Truncus arteriosus, Bowing of th...	ORPHA:261330
Recombinant Chromosome 8 Syndrome	Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Double out...	OMIM:179613
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemic pallor, Complete duplication of thumb phalanx, Absent thumb, Short thumb, ...	OMIM:227650
Proboscis Lateralis	Orofacial cleft, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, High palate, Holoprosencep...	ORPHA:141099
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Polyhydramnios, Intestinal polyposis, Clinodactyly of the 5th finger, Stomach can...	ORPHA:1052
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Prominent fingertip pads, High palate, Camptodactyly, Protruding ...	OMIM:300963
Fanconi Anemia, Complementation Group S	Clinodactyly, Microphthalmia, Proximal placement of thumb	OMIM:617883
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect, High palate, Dry skin	OMIM:620184
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Fryns Syndrome	Rocker bottom foot, Microphthalmia, Proximal placement of thumb, Meckel diverticulum, Prominent f...	OMIM:229850
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 5th finger, Clinodactyly of the 2nd finger, Broad thumb, Short palm, Broad ha...	OMIM:620073
Li-Ghorbani-Weisz-Hubshman Syndrome	Overlapping toe, Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger	OMIM:618974
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocephalus, Broad toe, Patent foramen oval...	OMIM:612582
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypoplasia of the thumb...	OMIM:184705
Myhre Syndrome	Short finger, Microphthalmia, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndact...	OMIM:139210
Li-Campeau Syndrome	Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Atrial septal defect,...	OMIM:619189
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Postaxial polydactyly, Broad hallux, Dou...	OMIM:217095
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Polyhydramnios, Premature skin wrinkling, Abnormal heart valve morphology,...	ORPHA:363705
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Clinodactyly of the 5th finger	OMIM:167730
19P13.12 Microdeletion Syndrome	Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Toe clinodacty...	ORPHA:254346
Joubert Syndrome 23	Polydactyly	OMIM:616490
Rhombencephalosynapsis	Polydactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Finger syndactyly, Anal at...	ORPHA:59315
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen ovale, Slender fi...	ORPHA:329224
Galloway-Mowat Syndrome 3	Microphthalmia, High palate, Camptodactyly, Arachnodactyly, Intrauterine growth retardation, Olig...	OMIM:617729
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Proximal placement of thumb, Patent ...	OMIM:620113
Tetraamelia-Multiple Malformations Syndrome	Orofacial cleft, Microphthalmia, Polyhydramnios, Aplasia/Hypoplasia involving the pelvis, Septo-o...	ORPHA:3301
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Pallor	ORPHA:99931
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Syringomyelia, Atrioventricular canal defect, Branchial anomaly, High palate, Furrowed tongue, Ve...	ORPHA:453499
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Single transverse palmar crease, Microphthalmia, High palate, Broad hallux	OMIM:614105
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly	OMIM:618727
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Hydrocephalus, High palate, Tongue nodules, Ankyloglossi...	OMIM:311200
Meige Disease	Pleural effusion, Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Okamoto Syndrome	Polydactyly, Redundant neck skin, Anal stenosis, Syringomyelia, Abnormal left ventricle morpholog...	ORPHA:2729
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Oculopalatocerebral Syndrome	Microphthalmia, Cleft palate	OMIM:257910
Noonan Syndrome 8	Polyhydramnios, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Pulmoni...	OMIM:615355
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, U...	OMIM:618164
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Clinodactyly of the 5th finger, Triphalangeal thumb, High palate, Cleft palate, Short distal phal...	OMIM:220500
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Volvulus, Right ventricular hypertrophy, Left ventricular hy...	ORPHA:335
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Severe intrauterine growth retardation, Short palm, Bifid uvula, Short foot, Smal...	OMIM:241410
Costello Syndrome	Narrow palate, Polyhydramnios, Redundant skin, Ventricular septal defect, Hypertrophic cardiomyop...	ORPHA:3071
Microphthalmia, Lenz Type	Orofacial cleft, Microphthalmia, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Fi...	ORPHA:568
Kury-Isidor Syndrome	Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, High palate, Brachydactyly, H...	OMIM:619762
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Ventricular...	OMIM:607941
Beta-Ketothiolase Deficiency	Edema, Pallor, Dehydration	ORPHA:134
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Ecto...	ORPHA:2473
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Joint contracture of the 5th finger, Single transverse palmar crease, 2-3 toe syn...	OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Microphthalmia, Transposition of the great arteries, Encephalocele, Hydroce...	OMIM:253800
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Abnormal heart morphology, Umbilical hernia, Bicuspid aortic valve, Short 5...	ORPHA:500159
Lymphatic Malformation 7	Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc...	OMIM:617300
Cold Agglutinin Disease	Pallor	ORPHA:56425
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Overlapping toe, Microphthalmia, Cleft palate, Abnormal heart morphology	OMIM:618571
Waldenström Macroglobulinemia	Purpura, Pleural effusion, Periorbital edema, Pallor, Pedal edema	ORPHA:33226
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Nonimmune hydrops fetal...	OMIM:620609
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Short foot	ORPHA:228399
Agammaglobulinemia, X-Linked	Prostatitis, Recurrent lower respiratory tract infections, Recurrent pneumonia, Recurrent sinusit...	OMIM:300755
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ...	OMIM:271640
Syngap1-Related Developmental And Epileptic Encephalopathy	Postaxial polydactyly, High palate	ORPHA:544254
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
3Q29 Microdeletion Syndrome	Orofacial cleft, Microphthalmia, Clinodactyly of the 5th finger, High palate, Tapered finger, Sub...	ORPHA:65286
Incontinentia Pigmenti	Orofacial cleft, Microphthalmia, Skin ulcer, Spina bifida occulta, Delayed eruption of teeth, Fin...	ORPHA:464
19Q13.11 Microdeletion Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Dry skin, Congenital hip dislocation, Toe clin...	ORPHA:217346
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Situs inversus totalis	OMIM:615985
Burn-Mckeown Syndrome	2-3 toe syndactyly, Bifid uvula, Cleft palate, Atrial septal defect, Ventricular septal defect	OMIM:608572
Larsen Syndrome	Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Spina bifida occulta, T...	OMIM:150250
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Redundant neck skin, Polyhydramnios, Spina bifida occulta, Camptodactyly, Intrauterine growth ret...	OMIM:617360
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	ORPHA:2438
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Aplasia of the distal phalanx of the 5th toe, Cleft palate, Brachydactyly, Microg...	ORPHA:364577
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Microphthalmia	OMIM:618805
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Int...	OMIM:210710
Grange Syndrome	Short palm, Ventricular septal defect, Syndactyly	ORPHA:79094
Coffin-Siris Syndrome 7	Polyhydramnios, Clinodactyly of the 5th finger, Patent foramen ovale, Brachydactyly, Bicuspid aor...	OMIM:618027
Monosomy 9Q22.3	Polydactyly, Orofacial cleft, Microphthalmia, Palmar pits, Delayed eruption of teeth, Hydrocephal...	ORPHA:77301
Myelofibrosis	Purpura, Pallor	OMIM:254450
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Short long bone, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Righ...	OMIM:306955
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic...	OMIM:614980
Fanconi Anemia, Complementation Group B	Esophageal atresia, Optic disc hypoplasia, Hydrocephalus, Tracheoesophageal fistula, Bilateral ra...	OMIM:300514
Apert Syndrome	Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Narrow palate, Hydrocephalus, Posta...	OMIM:101200
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Cleft palate, Intrauterine growth retardation, Short foot, Small hand	ORPHA:2714
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Limb undergrowth, Complete atr...	OMIM:619142
Frank-Ter Haar Syndrome	Redundant neck skin, Short long bone, Mitral valve prolapse, Patent foramen ovale, Camptodactyly,...	OMIM:249420
Adams-Oliver Syndrome 6	Truncus arteriosus, Esophageal varix, Foot oligodactyly, Syndactyly, Brachydactyly, Ventricular s...	OMIM:616589
Catel-Manzke Syndrome	Glossoptosis, Short metacarpal, Ulnar deviation of the 2nd finger, Bifid uvula, Short humerus, Um...	OMIM:616145
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Intestinal atresia, Ventric...	ORPHA:3405
Mend Syndrome	Polydactyly, Redundant neck skin, Hydrocephalus, 2-3 toe syndactyly, High palate, Aortic valve st...	OMIM:300960
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Glossoptosis, Postaxial p...	ORPHA:2886
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Proximal placement of thumb, Dysplastic pulmonary valve, Absence of the pulmo...	OMIM:601808
Lateral Meningocele Syndrome	Syringomyelia, Dural ectasia, Meningocele, Hydrocephalus, High palate, Tethered cord, Cleft palat...	OMIM:130720
Jansen-De Vries Syndrome	Brachydactyly, Bicuspid aortic valve, Ventricular septal defect, Short foot, Small hand	OMIM:617450
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bilateral cleft palate, High palate, Unilateral microphthalmos, Ankyloglossia, Mitral valve prola...	OMIM:618874
Vater/Vacterl Association	Occipital encephalocele, Hypoplasia of the radius, Transposition of the great arteries, Preaxial ...	OMIM:192350
X-Linked Dominant Chondrodysplasia Punctata	Scaling skin, Microphthalmia, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asy...	ORPHA:35173
Joubert Syndrome 27	Polydactyly	OMIM:617120
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Micromel...	OMIM:617866
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Oculodentodigital Dysplasia, Autosomal Recessive	2-4 toe cutaneous syndactyly, Microphthalmia, 4-5 finger syndactyly, Broad long bones, Fifth fing...	OMIM:257850
Koolen-De Vries Syndrome	Narrow palate, Prominent fingertip pads, High palate, Dry skin, Slender finger, Pyloric stenosis,...	OMIM:610443
Prune Belly Syndrome	Atrial septal defect, Anal atresia, Congenital hip dislocation, Intestinal malrotation, Volvulus,...	ORPHA:2970
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Redundant neck skin, Protein-losing enteropathy, Polyhydramnios, Lymphedema, High palate, Postaxi...	OMIM:235255
Joubert Syndrome 21	Occipital encephalocele, Encephalocele, Anophthalmia	OMIM:615636
Joubert Syndrome 17	Postaxial polydactyly, Preaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Meckel diverticulum, Pyloric stenosis, Natal tooth, Intrauterine growth retardation	OMIM:616395
Cooper-Jabs Syndrome	Proximal placement of thumb, Abnormal hip bone morphology, Camptodactyly of finger, Umbilical her...	ORPHA:1488
Jacobsen Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Hydrocephalus, Pyloric stenosis, Holoprosencephal...	OMIM:147791
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Intestinal malrotation, Arachnodactyly, Bifid uvula, Oligohydramnios,...	OMIM:300373
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Syringomyelia, Sandal gap, Patent foramen ovale, 2-3 toe syndactyly, Abnormal heart morphology, B...	ORPHA:477817
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Renal Cysts And Diabetes Syndrome	Hypospadias, Unilateral renal agenesis, Bicornuate uterus, Nephrolithiasis, Renal cyst, Glycosuri...	OMIM:137920
Sepsis In Premature Infants	Petechiae, Purpura, Edema, Pallor	ORPHA:90051
Chromosome 9P Deletion Syndrome	Narrow palate, Clinodactyly of the 5th toe, Perimembranous ventricular septal defect, High, narro...	OMIM:158170
Joubert Syndrome 2	Microphthalmia, Encephalocele, Hydrocephalus, High palate, Postaxial hand polydactyly, Postaxial ...	OMIM:608091
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ...	OMIM:617061
Pallister-Hall Syndrome	Microphthalmia, Mesoaxial polydactyly, Oligodactyly, Broad thumb, Bifid uvula, Umbilical hernia, ...	ORPHA:672
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hydrocephalus, Hypoplasia of the iris, Atrial septal defect, Ventricular septal d...	OMIM:613001
Plummer-Vinson Syndrome	Glossitis, Pallor, Esophageal web, Tongue atrophy	ORPHA:54028
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion...	OMIM:268300
Nance-Horan Syndrome	Broad finger, Short phalanx of finger, Microphthalmia	OMIM:302350
Rabson-Mendenhall Syndrome	Polydactyly, Advanced eruption of teeth, High palate, Dry skin, Furrowed tongue, Cardiomyopathy, ...	ORPHA:769
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Cleft palate, Ventricular septal defect	OMIM:620210
Branchiooculofacial Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Proximal placement of thumb, Anophthalmia, Branch...	OMIM:113620
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Intrauterine growth retardation, Oligohydramnios, Postaxial polydactyly	OMIM:615824
3-Hydroxy-3-Methylglutaric Aciduria	Edema, Pallor, Dilated cardiomyopathy, Dehydration	ORPHA:20
Galloway-Mowat Syndrome 1	Microphthalmia, Talipes equinovarus, High palate, Camptodactyly, Slender finger, Hypoplasia of th...	OMIM:251300
Methimazole Embryofetopathy	Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation, V...	ORPHA:1923
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen o...	OMIM:613884
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Pneumonia, Absent tonsils, Lymph node hypoplasia	ORPHA:276
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Microphthalmia, Anal atresia, Absent thumb, Short thumb, Atrial septal ...	OMIM:610832
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Abnormal pelvic girdle bone morphology, Congenital h...	ORPHA:1458
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Houge-Janssens Syndrome 2	Hydrocephalus, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia	OMIM:616362
Dominant Beta-Thalassemia	Skin ulcer, Genu valgum, Bowing of the long bones, Pallor, Dilated cardiomyopathy	ORPHA:231226
Serkal Syndrome	Orofacial cleft, Pulmonic stenosis, Malrotation of small bowel, Ventricular septal defect, Oligoh...	ORPHA:139466
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Microphthalmia, Aplasia/Hypopl...	ORPHA:3186
Microphthalmia, Syndromic 1	Orofacial cleft, High, narrow palate, Rectal prolapse, Aganglionic megacolon, Radial deviation of...	OMIM:309800
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hydrops fetalis, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Shor...	OMIM:263520
Craniofacial Microsomia 1	Occipital encephalocele, Microphthalmia, Transverse facial cleft, Genu valgum, Anophthalmia, Hydr...	OMIM:164210
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2710
Acrofacial Dysostosis 1, Nager Type	Radial deviation of finger, Absent thumb, Absent radius, Overlapping toe, Clinodactyly, Hip dislo...	OMIM:154400
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Short metacarpal, Camptodactyly, Cleft palate, Syndactyly, Absent palmar crease	OMIM:614230
Hallermann-Streiff Syndrome	Narrow palate, Abnormality of the hand, High, narrow palate, Microphthalmia, Slender long bone, H...	OMIM:234100
22Q11.2 Deletion Syndrome	Microphthalmia, Intestinal malrotation, Arachnodactyly, Umbilical hernia, Intrauterine growth ret...	ORPHA:567
Trisomy X	Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Hip dysplasia	ORPHA:3375
Yuan-Harel-Lupski Syndrome	Syringomyelia, Clinodactyly of the 5th finger, Sandal gap, High palate, Bicuspid aortic valve, Ve...	OMIM:616652
Woods Syndrome	Limited elbow extension, Single transverse palmar crease, Ventricular septal defect, 3-4 finger c...	OMIM:615236
Ellis Van Creveld Syndrome	Situs inversus totalis, Atrioventricular canal defect, Cubitus valgus, Dextrocardia, Genu valgum,...	ORPHA:289
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Fontaine Progeroid Syndrome	High, narrow palate, Microphthalmia, Deep palmar crease, Premature skin wrinkling, Hydrocephalus,...	OMIM:612289
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Ascites, Nonimmune hydrops fetalis, Intrauterine growth retardation, Overriding aorta, Ventricula...	OMIM:617021
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia, Hydrocephalus, Histiocytoid cardiomyopathy, Single transverse palmar crease, Anal...	OMIM:309801
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Intellectual Developmental Disorder, Autosomal Dominant 47	Intrauterine growth retardation, Ventricular septal defect, Increased nuchal translucency	OMIM:617635
Oculodentodigital Dysplasia	Microphthalmia, Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, High ...	OMIM:164200
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Tapered finger, Atrial septal defect, Ventricular septal defect, Interphal...	OMIM:613870
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Protein-losing enteropathy, Polyhydramnios, Abnormally large globe, High pal...	ORPHA:1655
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Ventricular septal defect	OMIM:214300
Tay-Sachs Disease	Pallor	OMIM:272800
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect, Cleft palate, High palate	OMIM:609654
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Umbilical hernia	OMIM:617751
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Slender long bone, Corneal stromal edema, Tibial bowing, Osteolytic defects of th...	OMIM:601812
Incontinentia Pigmenti	Pallor, Microphthalmia, Hypoplasia of the fovea, Erythema	OMIM:308300
Mosaic Trisomy 20	Abnormal mitral valve morphology, Clinodactyly, Cleft palate, Down-sloping shoulders, Limited pro...	ORPHA:1724
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Mesomelia, Intrauterine growth retardation, Hip dislocation, Advance...	ORPHA:818
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect, Postaxial hand ...	ORPHA:75389
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Encephalocele, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia	OMIM:613150
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Coronary artery fistula, Patent foramen ovale, High palate, Ventricular sep...	OMIM:619343
Mosaic Trisomy 16	Large placenta, Meckel diverticulum, Single transverse palmar crease, Clinodactyly, Abnormal hear...	ORPHA:1708
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Broad thumb...	ORPHA:1507
Lateral Meningocele Syndrome	High, narrow palate, Syringomyelia, Dural ectasia, Meningocele, High palate, Umbilical hernia, Ve...	ORPHA:2789
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Dehydration	OMIM:246450
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, 2-3 toe cutaneous syndactyly, Polyhydramnios, Clinodactyly of the 5th finger, Singl...	OMIM:300998
Beta-Thalassemia Intermedia	Pallor, Skin ulcer, Spinal cord compression	ORPHA:231222
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Acetabular dysplasia, Short metacarpal, Broad thumb, Cleft palate, Short distal p...	OMIM:201180
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, 2-3 toe syndactyly, Dry skin, Cutis laxa, Postaxial polydactyly, 2-4 toe ...	OMIM:614099
Refractory Anemia With Excess Blasts	Anemic pallor, Pedal edema	ORPHA:86839
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Hydrops fetalis, Lymphedema, Overriding aorta, Atrial septal defect, Ventricular septal defect, O...	OMIM:601927
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Edema, Anemic pallor	ORPHA:329971
Down Syndrome	Redundant neck skin, Sandal gap, Hypoplastic iliac wing, Broad palm, Clinodactyly, Aganglionic me...	OMIM:190685
Warburg Micro Syndrome 2	Clinodactyly of the 5th toe, Overlapping toe, Microphthalmia, Clinodactyly of the 4th toe	OMIM:614225
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia, Clinodactyly of the 5th finger	OMIM:617306
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Optic nerve hypoplasia, Abnormal heart morphology, Intrauterine growth retard...	ORPHA:508488
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Polyhydramnios, Abnormal heart morphology, Umbilical hernia, Ventricular septal d...	ORPHA:254534
Maternal Phenylketonuria	Esophageal atresia, High palate, Clinodactyly, Abnormal heart morphology, Tetralogy of Fallot, Bi...	ORPHA:2209
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Arachnodactyly, Cleft palate, Umbilical hernia...	ORPHA:96129
Loeys-Dietz Syndrome 2	Arachnodactyly, Bifid uvula, Syndactyly, Mitral valve prolapse, Umbilical hernia, Bicuspid aortic...	OMIM:610168
Multiple Osteochondromas	Intestinal obstruction, Cervical myelopathy, Abnormal femur morphology, Abnormal lower limb bone ...	ORPHA:321
Congenital Heart Defects And Skeletal Malformations Syndrome	Clinodactyly of the 5th finger, Sandal gap, High palate, Anal atresia, Camptodactyly, Intestinal ...	OMIM:617602
Pseudoaminopterin Syndrome	Orofacial cleft, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip s...	ORPHA:221120
Fanconi Anemia, Complementation Group L	Microphthalmia, Esophageal atresia, Absent radius, Hydrocephalus, Anal atresia, Tracheoesophageal...	OMIM:614083
Codas Syndrome	Atrioventricular canal defect, Genu valgum, Proximal placement of thumb, Rectovaginal fistula, De...	OMIM:600373
Radio-Tartaglia Syndrome	High, narrow palate, High palate, Dry skin, Tapered finger, Brachydactyly, Ventricular septal def...	OMIM:619312
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Single trans...	OMIM:610759
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Holoprosencephaly 7	Semilobar holoprosencephaly, Microphthalmia, Bilateral microphthalmos, Alobar holoprosencephaly, ...	OMIM:610828
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Esophageal atresia, Slender finger, Cleft palate, Preaxial hand poly...	OMIM:610536
Myopathy, Mitochondrial, And Ataxia	Pallor, High palate	OMIM:617675
Microcephaly 20, Primary, Autosomal Recessive	Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Optic nerve hypoplasia, Ex...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Intestinal pseudo-obstruction, Branchial anomaly, Optic nerve hypoplasia, Ex...	ORPHA:352665
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Cleft palate, Microphthalmia	OMIM:156610
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Idiopathic Hypereosinophilic Syndrome	Myocardial eosinophilic infiltration, Clubbing, Pleural effusion, Angioedema, Swelling of proxima...	ORPHA:3260
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Abnormally large globe	OMIM:618504
Elliptocytosis 1	Pallor	OMIM:611804
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,...	ORPHA:3138
Lethal Congenital Contracture Syndrome 2	Edema, Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:615879
Skraban-Deardorff Syndrome	Cleft palate, Ventricular septal defect	OMIM:617616
Von Hippel-Lindau Syndrome	Epididymal cyst, Pulmonary capillary hemangiomatosis, Papillary cystadenoma of the epididymis, Mu...	OMIM:193300
De Barsy Syndrome	Excessive wrinkled skin, Delayed eruption of teeth, High palate, Ventricular septal defect, Conge...	ORPHA:2962
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor	OMIM:301310
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bicuspid aortic valve, Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Cel...	ORPHA:284169
Cranioectodermal Dysplasia 2	Polydactyly, Hydrops fetalis, Rhizomelia, Polyhydramnios, Patent foramen ovale, High palate, Post...	OMIM:613610
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Carpenter Syndrome 2	Cutis laxa, Broad thumb, Umbilical hernia, Narrow palate, Transposition of the great arteries, Ca...	OMIM:614976
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Abnormal tricuspid valve leaflet morphology, Bacterial ...	ORPHA:99095
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Clinodactyly of the 5th finger, Acromesomelia, Pyloric stenosis, Aortic valve stenos...	ORPHA:464306
Beta-Thalassemia Major	Skin ulcer, Genu valgum, Bowing of the long bones, Pallor, Dilated cardiomyopathy	ORPHA:231214
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula, Hip dislocation	OMIM:619083
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia, Clinodactyly of the 5th finger	ORPHA:2399
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Redundant neck skin, Rhizomelic leg shortening, Early ossification of ca...	ORPHA:397715
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Tibial bowing, High palate, Bilater...	ORPHA:251028
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, ...	OMIM:619123
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short foot, Anal atresia, Postaxial polydactyly, Bifid uvula, Cleft palate, Hip dysplasia, Small ...	OMIM:300968
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Calcaneal epi...	ORPHA:79345
Donnai-Barrow Syndrome	Intestinal malrotation, Ventricular septal defect, Umbilical hernia	ORPHA:2143
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Skin ulcer	ORPHA:1806
X Small Rings	Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Cutaneous syndactyly,...	ORPHA:96201
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Aniridia	ORPHA:29072
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Warburg Micro Syndrome 3	Narrow palate, Microphthalmia, Clinodactyly of the 5th finger	OMIM:614222
Noonan Syndrome 10	Cubitus valgus, High palate, Ventricular septal defect, Hypertrophic cardiomyopathy, Increased nu...	OMIM:616564
Au-Kline Syndrome	Syringomyelia, Deep palmar crease, Clinodactyly of the 5th finger, Lipomyelomeningocele, High pal...	OMIM:616580
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi...	OMIM:143095
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head	OMIM:616629
Ohdo Syndrome, X-Linked	Microphthalmia, High palate, Ulnar deviation of the hand, Short thumb, Hip dysplasia, Overlapping...	OMIM:300895
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect...	ORPHA:3282
Bardet-Biedl Syndrome 1	High, narrow palate, Radial deviation of finger, Aganglionic megacolon, High palate, Postaxial ha...	OMIM:209900
Sotos Syndrome	Narrow palate, Advanced eruption of teeth, Muscular ventricular septal defect, High, narrow palat...	OMIM:117550
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Broad distal phalanx of finger, Intestinal malrotation, Pulmonic stenos...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Broad distal phalanx of finger, Intestinal malrotation, Pulmonic stenos...	ORPHA:353277
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Weiss-Kruszka Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar crease, Dex...	OMIM:618619
Hereditary Folate Malabsorption	Glossitis, Pallor	ORPHA:90045
Hereditary Spherocytosis	Pallor, Skin ulcer, Restrictive cardiomyopathy	ORPHA:822
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Loeys-Dietz Syndrome 5	Increased arm span, Flexion contracture of toe, Cleft soft palate, Talipes equinovarus, Patent fo...	OMIM:615582
Dubowitz Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Delayed eruption of teeth, Single transverse palm...	OMIM:223370
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Delayed eruption of teeth, 2-3 toe syndactyly, Dry skin, Intrauterine growth retardat...	OMIM:619229
8Q21.11 Microdeletion Syndrome	Microphthalmia, Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absen...	ORPHA:284160
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, High palate, Dry skin, Increased nuchal translucency, Pulmonic stenosis,...	OMIM:620654
Alagille Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bifida occulta, Short distal phalan...	ORPHA:52
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Atrial septal defect, Patent foramen ovale, High palate, Congenital hip dislocation, Pyloric sten...	ORPHA:457279
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Prominent fingertip pads, Broad thumb, Bifid uvula, Short distal phalanx of finge...	OMIM:612474
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic...	ORPHA:96334
Weill-Marchesani Syndrome 1	Narrow palate, Broad phalanges of the hand, Microspherophakia, Broad metacarpals, Broad metatarsa...	OMIM:277600
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Redundant skin, Campt...	ORPHA:96167
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia, Clinodactyly of the 5th finger, Patent foramen ovale, High palate, Furrowed tongu...	OMIM:616975
Rodrigues Blindness	Microphthalmia	OMIM:268320
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Ventricular septal defect, Anomalous pulmonary venous ret...	ORPHA:860
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Abnormal heart morphology, High palate	ORPHA:314655
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis involving bones of t...	ORPHA:371428
Autosomal Recessive Malignant Osteopetrosis	Abnormal metaphysis morphology, Delayed eruption of teeth, Hydrocephalus, Bowing of the long bone...	ORPHA:667
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Dislocated radial head, Malrotation of colon, Intrauterine growth re...	OMIM:122470
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Polyhydramnios, Ventricular septal defect, Intestinal malr...	OMIM:243150
Micro Syndrome	Intrauterine growth retardation, Microphthalmia, High palate	ORPHA:2510
Letterer-Siwe Disease	Pallor	OMIM:246400
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Tracheoesophageal fistula, Broad thumb, Umbilical hernia, Aplasia/Hy...	OMIM:107480
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Cardiomyopathy	OMIM:249270
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short metacarpal, Brachydactyly, Metaphyseal chondrodysplasia, Intrauterine growth retardation, H...	ORPHA:166035
Chime Syndrome	Pulmonary valve atresia, Transposition of the great arteries, Skin ulcer, Aplasia/Hypoplasia of t...	ORPHA:3474
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Polyhydramnios, Single transverse palmar crease, Patent foramen ovale, Ankyloglos...	OMIM:620186
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Tracheoesophageal fistula, Intestinal malrotation, Nonimmune hydrops fetalis...	OMIM:265380
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Cleft palate, Tetralogy of Fallot, Ventricular septal defect...	ORPHA:1727
Timothy Syndrome	Patent foramen ovale, Cutaneous syndactyly, Tetralogy of Fallot, Cardiomegaly, Ventricular septal...	OMIM:601005
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly of the 5th finger, Single transverse palmar crease, Severe intrauterine ...	OMIM:614114
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri...	OMIM:212093
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of primary teeth, Umbilical hernia, Atrial septal defect, Ventricular septal defect, ...	OMIM:619769
Kagami-Ogata Syndrome	Polyhydramnios, Pulmonic stenosis, Long fingers, Limb undergrowth, Atrial septal defect, Ventricu...	OMIM:608149
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Acute colitis, Intestinal perforation, Pleural empyema, Generalized edema, Edema, In...	ORPHA:544482
Marshall-Smith Syndrome	Optic nerve hypoplasia, Prominent fingertip pads, Glossoptosis, Umbilical hernia, Short distal ph...	OMIM:602535
Ogden Syndrome	Cutis laxa, High, narrow palate, Ventricular septal defect, Broad hallux	ORPHA:276432
Transaldolase Deficiency	Patent foramen ovale, Intrauterine growth retardation, Atrial septal defect, Ventricular septal d...	OMIM:606003
Alternating Hemiplegia Of Childhood	Pallor, Cardiomyopathy, Dehydration	ORPHA:2131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia, Meningoencephaloc...	OMIM:236670
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Narrow iliac wing, Short palm, Cleft palate, Brachydactyly, Intra...	OMIM:300712
Loeys-Dietz Syndrome 1	Dural ectasia, Hydrocephalus, High palate, Postaxial hand polydactyly, Bicuspid pulmonary valve, ...	OMIM:609192
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Hydrops fetalis, Abnormal diaphysis morphology, Cardiomyopathy, V...	ORPHA:354
Double Outlet Right Ventricle	Truncus arteriosus, Intestinal malrotation, Pulmonic stenosis, Cleft palate, Tetralogy of Fallot,...	ORPHA:3426
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Camptodactyly, Arachnodactyly, Atrial septal defect, Ventricular septal defect, Talipes equinovarus	OMIM:301039
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Triphalangeal thumb, Calcaneovalgus deformity, Congenital hip dislocation, Ve...	ORPHA:3078
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries, High palate, Brachydactyly	OMIM:619995
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Helsmoortel-Van Der Aa Syndrome	Polydactyly, High, narrow palate, Advanced eruption of teeth, Genu valgum, Clinodactyly of the 5t...	OMIM:615873
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Encephalocele, Hydrocephalus, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Sifrim-Hitz-Weiss Syndrome	Short clavicles, Flat acetabular roof, Bifid uvula, Tetralogy of Fallot, Short femoral neck, Atri...	OMIM:617159
3Mc Syndrome 1	Caudal appendage, Clinodactyly of the 5th finger, Spina bifida occulta, Single interphalangeal cr...	OMIM:257920
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Cleft soft palate, Pyloric stenosis, Ao...	ORPHA:268261
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Dehydration, Right ventricular hypertrophy, Hip dysplasia, Atrial septal de...	OMIM:208085
Khan-Khan-Katsanis Syndrome	Patent foramen ovale, Tethered cord, Postaxial polydactyly, Intrauterine growth retardation, Buph...	OMIM:618460
Jacobsen Syndrome	Finger syndactyly, Ectopic anus, Spina bifida, Intestinal malrotation, Pyloric stenosis, Aortic v...	ORPHA:2308
Pearson Marrow-Pancreas Syndrome	Pallor, Hydrops fetalis, Dehydration, Erythema	OMIM:557000
Meier-Gorlin Syndrome 7	Bowing of the legs, Anal stenosis, Dislocated radial head, Aplasia/Hypoplasia of the patella, 2-3...	OMIM:617063
Hajdu-Cheney Syndrome	Syringomyelia, Skin ulcer, Partial absence of toe, Hydrocephalus, Dry skin, Bowing of the long bo...	ORPHA:955
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Partial anomalous pulmonary venous return, Dextrocard...	OMIM:619657
Atelis Syndrome 2	Microphthalmia, Single transverse palmar crease, High palate, Supravalvar pulmonary stenosis, Pul...	OMIM:620185
Seckel Syndrome 9	Polyhydramnios, Intrauterine growth retardation, Atrial septal defect, Ventricular septal defect,...	OMIM:616777
Joubert Syndrome 39	Joint contracture of the 5th finger, Occipital encephalocele, Postaxial polydactyly, Hypoplastic ...	OMIM:619562
Noonan Syndrome 2	Redundant neck skin, Atrioventricular canal defect, Cubitus valgus, Polyhydramnios, Patent forame...	OMIM:605275
Robinow Syndrome	Orofacial cleft, Pulmonary valve atresia, Tricuspid atresia, Mesomelic arm shortening, Acromesome...	ORPHA:97360
Imerslund-Gräsbeck Syndrome	Glossitis, Pallor	ORPHA:35858
Otodental Syndrome	Microphthalmia, Lens coloboma, Delayed eruption of teeth	ORPHA:2791
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Intestinal malrotation, Cleft palate, Brachydactyly, Atrial septal defect, Ventricular septal defect	ORPHA:457193
Pontocerebellar Hypoplasia, Type 17	Intrauterine growth retardation, Secundum atrial septal defect, Ventricular septal defect	OMIM:619909
Stankiewicz-Isidor Syndrome	2-3 toe syndactyly, Truncus arteriosus, Absent thumb, Short thumb, Ventricular septal defect	OMIM:617516
Wolf-Hirschhorn Syndrome	Malrotation of small bowel, Craniofacial asymmetry, Intrauterine growth retardation, Hip dislocat...	OMIM:194190
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Coronary artery fistula, Long fingers, Cleft palate, Intrauterine growth retardatio...	OMIM:614294
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Camptodactyly, Broad thumb, Short phalanx of finger, Cleft palate, Mesomeli...	OMIM:616894
Monosomy 13Q14	Microphthalmia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyl...	ORPHA:1587
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Cardiomyopathy, F...	OMIM:312870
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a...	OMIM:280000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Dextrocardia, Hydrocephalus, Pyl...	ORPHA:2461
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Cleft palate, Holoprosencephaly, Metatarsus valgus, Atrial septal defect...	ORPHA:261236
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Total anomalous pulmon...	OMIM:208530
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Total anomalous pulmonary venous return, Pulmonic stenosis, ...	OMIM:613854
Craniofacial Dyssynostosis With Short Stature	Pyloric stenosis, Ventricular septal defect, Hydrocephalus	OMIM:218350
Down Syndrome	Narrow palate, Bilateral single transverse palmar creases, Aganglionic megacolon, Atrioventricula...	ORPHA:870
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Cleft palate, Ventricular septal defect	ORPHA:261190
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Clinodactyly of the 5th finger, Esophageal atresia, Spina bifida occulta...	OMIM:301030
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Preaxial polydactyly, Aplasia of the epiglottis, Ventricular septal defe...	OMIM:615948
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Clinodactyly of the 5th finger, High palate, Anal atresia...	OMIM:309500
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Adnp Syndrome	Polydactyly, Advanced eruption of teeth, Sandal gap, Single transverse palmar crease, Abnormal fi...	ORPHA:404448
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, High, narrow palate, Redundant neck skin, Cubitus valgus, Epiphyseal stipplin...	OMIM:214100
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, High palate, Hip dysplasia	OMIM:618798
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Aganglionic megacolon, Atrioventricular canal defect, Anal atresia, Trac...	ORPHA:210122
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Tether...	OMIM:600145
Trichothiodystrophy	High, narrow palate, Bilateral microphthalmos, Clubbing, Cardiomyopathy, Dry skin, Umbilical hern...	ORPHA:33364
Adenohypophysitis	Pallor	ORPHA:95512
Ogden Syndrome	Left atrial enlargement, Redundant neck skin, Sandal gap, Redundant skin, Cutis laxa, Umbilical h...	OMIM:300855
Donnai-Barrow Syndrome	Hypoplasia of the iris, Intestinal malrotation, Short sternum, Umbilical hernia, Ventricular sept...	OMIM:222448
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Radial deviation of finger, Talipes equinovarus, Ventri...	OMIM:301040
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Tarsal synostosis, Elbow flexion contracture, Camptodactyly, Cutaneous finger syndactyly, Hip con...	OMIM:178110
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Single transverse palmar crease, High palate, Postaxial polydactyly, Long fin...	OMIM:617527
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Spina bifida occulta, Abnormal right ventricle morphology, Tibial bowi...	ORPHA:500095
Aregenerative Anemia	Pallor	ORPHA:101096
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Intrauterine growth retardation, Oligohydramnios, Cleft palate, Ventricular septal defect	OMIM:611812
Momo Syndrome	Bilateral microphthalmos, Delayed eruption of teeth, Femoral bowing, High palate, Short sternum, ...	ORPHA:2563
Bardet-Biedl Syndrome 12	Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly	OMIM:615989
Panhypophysitis	Pallor	ORPHA:95513
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Polyhydramnios, Clinodactyly of the 5th finger, Short 2nd finger, Finger syn...	ORPHA:373
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Patent foramen ova...	OMIM:301043
Noonan Syndrome 4	Polyhydramnios, Cubitus valgus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal def...	OMIM:610733
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Palmoplantar keratoderma, Polyhydramnios, Patent foramen ovale, Right atrial enlargement, Pericar...	OMIM:620519
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Tapered finger, 1-2 toe syndactyly, Camptodactyly, Short foot, Cleft...	OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, High palate, Broad thumb, Arachnodactyly, Atrial septal ...	OMIM:309520
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Optic nerve hypoplasia, High palate, Hip dysplasia, Dilated cardiomy...	ORPHA:261250
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Dysosteosclerosis	Abnormal metaphysis morphology, Ventricular septal defect, Coarse metaphyseal trabecularization, ...	ORPHA:1782
Coffin-Siris Syndrome 4	Short phalanx of the 5th toe, Pulmonic stenosis, Prominent interphalangeal joints, Cleft palate, ...	OMIM:614609
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Ascites, Broad thumb, Syndactyly, Edema, Polydactyly, Hydrocepha...	OMIM:619534
Sheehan Syndrome	Pallor, Dry skin	ORPHA:91355
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Delayed eruption of teeth, High palate, Congenital hip dislocation, Short palm, S...	OMIM:268400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Talipes equinovarus, High palate, Hand clenching, Intrauterine growth retardation, Ventricular se...	OMIM:614653
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic pulmonary valve, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard p...	OMIM:619103
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
46,Xx Sex Reversal 5	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:618901
Pituitary Apoplexy	Pallor	ORPHA:95613
Systemic Mastocytosis With Associated Hematologic Neoplasm	Peptic ulcer, Pallor	ORPHA:98849
Tetraamelia Syndrome 2	Glossoptosis, Ankyloglossia, Cleft palate, Ventricular septal defect, Bilateral cleft lip	OMIM:618021
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Edema, Ol...	OMIM:609049
Cockayne Syndrome B	Normal pressure hydrocephalus, Square pelvis bone, Microphthalmia, Hypoplastic iliac wing, Dry sk...	OMIM:133540
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Redundant neck skin, Ventricular septal defect, Postaxial hand polydactyly	ORPHA:2519
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Microphthalmia, Delayed eruption of primary ...	OMIM:300952
Thakker-Donnai Syndrome	Transposition of the great arteries, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistul...	ORPHA:1780
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Long toe, Hydrocephalus, Hyperextensibility of the finger joints, 2-3 toe syn...	ORPHA:163979
Tetrasomy 9P	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Dextrocardia, Hydroce...	ORPHA:3310
Teebi Hypertelorism Syndrome 1	Natal tooth, Broad palm, Atrial septal defect, Ventricular septal defect, Small hand	OMIM:145420
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Dry skin	OMIM:601675
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Total anomalous...	OMIM:613751
Phelan-Mcdermid Syndrome	Palpebral edema, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Lymphedema, High palate, Lar...	OMIM:606232
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Pallor	OMIM:277400
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Patent foramen ovale, Hip dysplasia, Intrauterine growth retardation, Atrial sept...	OMIM:620005
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Cubitus valgus, Epiphyseal stippling, Single transverse palmar crease, High pala...	OMIM:614866
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hypertrophy, Ventricular sep...	OMIM:108900
Alg9-Cdg	Narrow greater sciatic notch, Atrial septal defect, Hydrops fetalis, Rhizomelia, Abnormal left ve...	ORPHA:79328
Neuroocular Syndrome	Microphthalmia, Deep palmar crease, Short uvula, Clinodactyly of the 5th finger, Tibial torsion, ...	OMIM:619539
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Hallux valgu...	OMIM:602782
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Tbck-Related Intellectual Disability Syndrome	Broad finger, High, narrow palate, Broad toe, 2-3 toe syndactyly, Ventricular septal defect, Pulm...	ORPHA:488632
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Short palm, Long fingers, Cle...	OMIM:616734
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb, Spina bifida, Cleft palate, Hiatus hernia	OMIM:304050
Meacham Syndrome	Stillbirth, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary ...	OMIM:608978
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Oligodactyly, Intestinal...	ORPHA:199
Prolactinoma	Pallor	ORPHA:2965
Mullegama-Klein-Martinez Syndrome	Polydactyly, Clinodactyly of the 5th finger, Submucous cleft of soft and hard palate, Bifid uvula...	OMIM:301022
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Pallor, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Truncus arteriosus, Generalized edema, Tetralogy of Fallot, Partial anomalous ...	OMIM:617478
Traboulsi Syndrome	Short finger, Microphthalmia, Cubitus valgus, High palate, Arachnodactyly, Bifid uvula, Broad hallux	OMIM:601552
Opitz Gbbb Syndrome	Rectourethral fistula, High palate, Anal atresia, Cleft palate, Unilateral cleft lip, Umbilical h...	OMIM:300000
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Fraser Syndrome 2	Microphthalmia, Cutaneous syndactyly, Oligohydramnios	OMIM:617666
Cerebrocostomandibular Syndrome	Anal stenosis, Clinodactyly of the 5th finger, Polyhydramnios, Cleft soft palate, Short hard pala...	OMIM:117650
Paternal Uniparental Disomy Of Chromosome 6	High palate, Dehydration, Umbilical hernia, Cardiomegaly, Ventricular septal defect, Oligohydramn...	ORPHA:96191
Cardiac Diverticulum	Transposition of the great arteries, Tricuspid atresia, Dextrocardia, Partial anomalous pulmonary...	ORPHA:1686
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Intestinal malrotation, Bifid uvula, Intrauterine growth retardation...	OMIM:270400
Neuroblastoma	Anemic pallor, Spinal cord compression	ORPHA:635
Townes-Brocks Syndrome	Microphthalmia, Clinodactyly of the 5th finger, Triphalangeal thumb, Rectovaginal fistula, Absent...	ORPHA:857
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Intrauterine growth retardation, Pericardial effusion, Ventricular septal defect, Hypertrophic ca...	OMIM:618775
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Optic nerve hypoplasia, Patent foramen ovale, High palate, Ventricular septal def...	OMIM:617506
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Palpebral edema, Hydrocephalus, High palate, Ventricular septal defect,...	ORPHA:261337
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Polyhydramnios, Fibular bowing, Clinodactyly of the 5th finger, Bilateral coxa valga...	OMIM:618268
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short...	OMIM:181450
Witteveen-Kolk Syndrome	High, narrow palate, Radial deviation of finger, Clinodactyly of the 5th finger, Proximal placeme...	OMIM:613406
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Cleft palate, High palate	ORPHA:52055
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia, Bifid uvula, Orofacial cleft	OMIM:229400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Pedal edema	OMIM:126320
Velocardiofacial Syndrome	Abnormality of the hand, Velopharyngeal insufficiency, Cleft palate, Tetralogy of Fallot, Umbilic...	OMIM:192430
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Dry skin, Bilateral talipes equinovarus, Mitral stenosis, Tetralogy of Fall...	ORPHA:163956
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Redundant neck skin, Cardiomyopathy, Flat acetabular ...	OMIM:216340
Papillorenal Syndrome	Edema, Microphthalmia	OMIM:120330
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Dextrocardia, Absent thumb, Brachydactyly, Vent...	ORPHA:96097
Phace Association	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect	OMIM:606519
Culler-Jones Syndrome	Postaxial polydactyly, Cleft palate	OMIM:615849
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Delayed eruption of teeth, Finger syndactyly, Non-midline cleft o...	ORPHA:1071
Cardiac-Urogenital Syndrome	Mesocardia, Patent urachus, Partial anomalous pulmonary venous return, Dextrocardia, Scimitar ano...	OMIM:618280
Hallermann-Streiff Syndrome	High, narrow palate, Microphthalmia, Clinodactyly of the 5th finger, Glossoptosis, Natal tooth, S...	ORPHA:2108
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Clinodactyly of the 5th finger, Finger syndactyly, T...	ORPHA:1519
Trichohepatoenteric Syndrome 1	Large placenta, Polyhydramnios, Pulmonic stenosis, Bifid uvula, Tetralogy of Fallot, Intrauterine...	OMIM:222470
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Short foot, Aortic valve stenosis, Flexion contracture of finger, Short toe, Intr...	ORPHA:464311
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Monosomy 9P	Bilateral single transverse palmar creases, Microphthalmia, Proximal placement of thumb, High pal...	ORPHA:261112
Feingold Syndrome 1	Tricuspid atresia, Polyhydramnios, Esophageal atresia, 2-3 toe syndactyly, High palate, Tricuspid...	OMIM:164280
Von Hippel-Lindau Disease	Myocarditis, Pallor, Macular edema, Cardiomyopathy	ORPHA:892
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Transposition of the great arteries, Double outlet left...	OMIM:600001
Noonan Syndrome 1	High, narrow palate, Radial deviation of finger, Cubitus valgus, Chylothorax, Lymphedema, High pa...	OMIM:163950
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Coffin-Siris Syndrome 1	Duodenal ulcer, Sandal gap, Dislocated radial head, Prominent fingertip pads, Intestinal malrotat...	OMIM:135900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Orofacial cleft, Patent foramen ovale, Hypertrophic cardiomyopathy, Short humerus, S...	ORPHA:17
Holoprosencephaly 2	Semilobar holoprosencephaly, Microphthalmia, Alobar holoprosencephaly, Bilateral cleft palate, Me...	OMIM:157170
Neurocardiofaciodigital Syndrome	Polydactyly, Double inlet left ventricle, High palate, Tetralogy of Fallot, Syndactyly, Atrial se...	OMIM:619869
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of hallux, Proximal placement of thumb, Sandal gap, Small ...	OMIM:613458
Oculocerebrorenal Syndrome Of Lowe	Narrow palate, Abnormal metaphysis morphology, Microphthalmia, Skin ulcer, Genu valgum, Delayed e...	ORPHA:534
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Deviation of the hallux, Hammertoe, Sandal...	OMIM:616268
Spinal Arteriovenous Metameric Syndrome	Abnormal spinal cord morphology, Spinal arteriovenous malformation	ORPHA:53721
Beaulieu-Boycott-Innes Syndrome	Velopharyngeal insufficiency, Ventricular septal defect	OMIM:613680
Developmental Delay With Or Without Dysmorphic Facies And Autism	2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Patent foramen ovale, Cleft palate,...	OMIM:618454
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Microphthalmia, Abnormality of the medullary cavity of the long b...	OMIM:127000
Congenital Total Pulmonary Venous Return Anomaly	Atrial septal defect, Atrial situs ambiguous, Transposition of the great arteries, Infracardiac t...	ORPHA:99125
Oculoauricular Syndrome	Microphakia, Microphthalmia, Spina bifida occulta, Phthisis bulbi, Macular hypoplasia	OMIM:612109
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Metaphyseal dysplasia, Brachydactyly, Metaphyseal chondrodysplasia, Short dista...	OMIM:250410
Opitz Gbbb Syndrome	Ectopic anus, Patent foramen ovale, High palate, Anal atresia, Tracheoesophageal fistula, Ankylog...	ORPHA:2745
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, High palate, Congenital hip disl...	OMIM:244450
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Ankylog...	OMIM:619297
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,...	ORPHA:2255
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Atrial s...	ORPHA:261183
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Hydrocephalus, Disl...	OMIM:102500
Noonan Syndrome 3	Tricuspid valve prolapse, Polyhydramnios, Patent foramen ovale, High palate, Hypertrophic cardiom...	OMIM:609942
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric...	ORPHA:26793
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology, Flexion contracture of finger, Camptodactyly	ORPHA:88628
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Duodenal atresia, Total...	OMIM:270100
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor	ORPHA:91347
Bardet-Biedl Syndrome 20	2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Atrial septal defect, Prea...	OMIM:619471
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Aicardi Syndrome	Microphthalmia, Intestinal polyposis, Cleft palate, Hip dysplasia, Hiatus hernia, Small hand	ORPHA:50
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pulmon...	OMIM:261540
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia, 4-5 finger syndactyly, Lobar holoprosencephaly,...	ORPHA:468631
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Optic disc hypoplasia, Ventricular septal defect, Dry skin	OMIM:619306
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Clinodactyly of the 5th finger, Arachnodactyly, Short palm, Hip dy...	OMIM:620568
Scimitar Syndrome	Tricuspid atresia, Partial anomalous pulmonary venous return, Dextrocardia, Truncus arteriosus, V...	ORPHA:185
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Viss Syndrome	Rocker bottom foot, Coronary sinus enlargement, Intestinal malrotation, Cutis laxa, Malposition o...	OMIM:619472
Choanal Atresia	Polydactyly	ORPHA:137914
Syndromic Diarrhea	Gastritis, Colitis, Dry skin, Abnormal heart morphology, Tetralogy of Fallot, Bicuspid aortic val...	ORPHA:84064
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Cleft palate, Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect	OMIM:614921
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited elbow flexion/extension, Rhizomelia, Increas...	OMIM:258315
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Narrow palate, Spinal cord tumor, Syringomyelia, Broad distal phalanx of finger, Abnormal proxima...	ORPHA:353281
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Tibial bowing, Metaphyseal widening, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Legius Syndrome	Pulmonic stenosis, Polydactyly, Clinodactyly of the 5th finger, Mitral valve prolapse	ORPHA:137605
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Thin long bone diaphyses, Cortical thickening of long bone diaphyses, P...	ORPHA:93325
Chops Syndrome	High, narrow palate, Patent foramen ovale, Anomalous pulmonary venous return, Brachydactyly, Vent...	OMIM:616368
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Pallor, Aganglionic megacolon, Abnormal tongue morphology	ORPHA:653
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Scaling skin, Internally rotated shoulders, Cutis laxa, Oligohydramnios, Transposition of the gre...	OMIM:619503
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Atrial septal defect, Atrioventricular canal defect, ...	ORPHA:3047
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se...	OMIM:620570
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Atrioventricular canal defect, Aplasia of the epiglottis, Polyhydramnios, Short clavicles, Short ...	OMIM:617088
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, Clinodactyly of the 5th finger, Finger syndactyly, Optic nerve hypoplasia, 2-3 to...	OMIM:620025
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Bifid uvula, High palate	OMIM:300472
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Costello Syndrome	Limited elbow movement, Redundant neck skin, Polyhydramnios, Deep palmar crease, Hydrocephalus, H...	OMIM:218040
Holoprosencephaly 14	Aqueductal stenosis, Alobar holoprosencephaly, Hydrocephalus, Aortic valve atresia, Cleft palate,...	OMIM:619895
Koolen-De Vries Syndrome Due To A Point Mutation	Dural ectasia, Hydrocephalus, Prominent fingertip pads, Cardiomyopathy, Calcaneovalgus deformity,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Dural ectasia, Hydrocephalus, Prominent fingertip pads, Cardiomyopathy, Calcaneovalgus deformity,...	ORPHA:363958
Truncus Arteriosus	Pulmonary edema, Transposition of the great arteries, Abnormal heart valve morphology, Truncus ar...	ORPHA:3384
X-Linked Cerebral Adrenoleukodystrophy	Abnormal spinal cord morphology, Myelopathy	ORPHA:139396
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Optic nerve hypoplasia, Postaxial polydactyly, Broad hallux, Hip ...	ORPHA:457284
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Clinodactyly of the 5th finger, Increased femoral anteversion, Ventricular...	OMIM:609460
Coffin-Siris Syndrome	Delayed eruption of teeth, Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth re...	ORPHA:1465
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Deep palmar crease, Cubitus valgus, High palate, Hypertrophic cardiomyopathy, Pul...	OMIM:607721
Orofaciodigital Syndrome Type 14	Aplasia of the epiglottis, Deviation of the hallux, Ventricular septal defect, Postaxial hand pol...	ORPHA:434179
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Clubbing, Split hand, Cleft palate, Tetralogy of Fallot, Ventricular septal defect	OMIM:600460
Acute Disseminated Encephalomyelitis	Abnormal spinal cord morphology, Cerebral edema, Myelitis	ORPHA:83597
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, High palate	OMIM:110100
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo...	ORPHA:42775
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Increased nuchal translucency, Secundum atri...	OMIM:620066
Early Infantile Epileptic Encephalopathy	Broad finger, Short finger, Broad phalanx of the toes, Cleft palate, Umbilical hernia, Ventricula...	ORPHA:1934
Intellectual Developmental Disorder, X-Linked, Syndromic 34	High, narrow palate, Hallux valgus, Patent foramen ovale, Ventricular septal defect, Synostosis o...	OMIM:300967
Pallister-Killian Syndrome	Intestinal malrotation, Aortic valve stenosis, Bifid uvula, Umbilical hernia, Edema of the dorsum...	OMIM:601803
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Long hallux, Large hands, Mitral valve prolapse, Macroglossia, Bowing ...	OMIM:617107
Chromosome 1P36 Deletion Syndrome, Distal	Bifid uvula, Abnormality of the anus, Bicuspid aortic valve, Short 5th finger, Hydrocephalus, Pat...	OMIM:607872
Heterotaxy, Visceral, 12, Autosomal	Situs inversus totalis, Dextrocardia, Patent foramen ovale, Double inlet right ventricle, Pulmoni...	OMIM:619702
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Phthis...	OMIM:619727
Floating-Harbor Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Precocious puberty, Varicocele, Nephrocalci...	ORPHA:2044
Double Outlet Left Ventricle	Orofacial cleft, Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicusp...	ORPHA:3427
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly	ORPHA:163681
Congenital Tracheomalacia	Esophageal atresia, Tracheoesophageal fistula, Cutis laxa, Abnormal heart morphology, Tetralogy o...	ORPHA:95430
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Palmoplantar keratoderma, 2-3 toe syndactyly, Cleft palate, Ventricular septal defect	OMIM:106260
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Cardiomyopathy, High palate, Anal atresia, Congenital hip dislocation, Slender fin...	ORPHA:480880
Tetraamelia Syndrome 1	Microphthalmia, Hydrocephalus, Anal atresia, Hypoplastic pelvis, Cleft palate	OMIM:273395
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Atrial septal defect, Neonatal death, Ventricular septal defect	OMIM:620024
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Varicocele, Nephrocalcinosis, Hydronephrosis, Congenital post...	OMIM:136140
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Bifid uvula, Abnormal h...	ORPHA:261537
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short finger, Clinodactyly of the 5th finger, Abnormality of the palmar creases, Single transvers...	OMIM:619522
Transketolase Deficiency	Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect	ORPHA:488618
Aortic Arch Interruption	Transposition of the great arteries, Aortic valve atresia, Aortopulmonary window, Truncus arterio...	ORPHA:2299
Renal Agenesis	Talipes equinovarus, Ventricular septal defect, Oligohydramnios, Anal atresia	ORPHA:411709
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype...	OMIM:615474
Acrofacial Dysostosis, Cincinnati Type	Aqueductal stenosis, Biventricular hypertrophy, Cleft anterior mitral valve leaflet, Clinodactyly...	OMIM:616462
Combined Immunodeficiency-Enteropathy Spectrum	Polyhydramnios, Rectal abscess, Intestinal malrotation, Jejunoileal ulceration, Intrauterine grow...	ORPHA:436252
Zttk Syndrome	Intestinal atresia, High palate, Submucous cleft hard palate, Bifid uvula, Intrauterine growth re...	OMIM:617140
Mowat-Wilson Syndrome	Atrial septal defect, Microphthalmia, Aganglionic megacolon, Delayed eruption of teeth, Pyloric s...	OMIM:235730
Williams Syndrome	Redundant skin, Tracheoesophageal fistula, Pulmonic stenosis, Mitral valve prolapse, Umbilical he...	ORPHA:904
Hardikar Syndrome	Gastric varix, Partial anomalous pulmonary venous return, Cleft soft palate, Bilateral cleft pala...	OMIM:301068
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cleft soft palate, Cleft palate, Abnormal heart morphology, Abnormal pa...	OMIM:154500
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Bifid uvula, Abnormal h...	ORPHA:261552
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous...	ORPHA:3097
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Optic nerve hypoplasia, Abnormal digit morphology, Median cleft palate, Septo-optic ...	ORPHA:95494
Mowat-Wilson Syndrome	Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Abnormal heart morphology,...	ORPHA:2152
Diets-Jongmans Syndrome	Polyhydramnios, Umbilical hernia, Hip dysplasia, Ventricular septal defect, Duodenal atresia	OMIM:618846
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cleft palate, High palate	OMIM:603457
Autosomal Dominant Coarctation Of Aorta	Ventricular septal defect, Hypoplastic left heart	ORPHA:1455
Genitopatellar Syndrome	Anal stenosis, Polyhydramnios, Delayed eruption of teeth, Anal atresia, Hypoplastic ischia, Conge...	OMIM:606170
Diamond-Blackfan Anemia 10	Cleft palate, Ventricular septal defect	OMIM:613309
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Absence of Stensen duct, ...	OMIM:149730
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Fibular hypoplasia, Hip subluxation, Patent foramen ovale, High palate, Glossoptosis, Ventricular...	ORPHA:444077
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Increased axial length of the globe, Osteopathia striata, Metatarsus adductus, Cleft palate, Hip ...	ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Optic nerve hypoplasia, High palate, Cutaneous syndactyly, Toe clinodactyly, Long fin...	OMIM:620330
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Microphthalmia, Genu valgum, Camptodactyly of finger, Finger swelling, Hip disloc...	OMIM:309000
Combined Oxidative Phosphorylation Deficiency 15	Single transverse palmar crease, Ventricular septal hypertrophy, Ventricular septal defect, Small...	OMIM:614947
Congenital Disorder Of Glycosylation, Type Iiaa	Short long bone, Ventricular septal defect, Bilateral talipes equinovarus	OMIM:620454
Amoebiasis Due To Free-Living Amoebae	Abnormal spinal cord morphology, Skin ulcer, Myocardial necrosis, Cerebral edema	ORPHA:68
Congenital Tracheal Stenosis	Polyhydramnios, Meckel diverticulum, Anal atresia, Tracheoesophageal fistula, Hypoplastic left he...	ORPHA:141127
Cockayne Syndrome	Abnormal epiphysis morphology, Microphthalmia, Premature skin wrinkling, Delayed eruption of prim...	ORPHA:191
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Hydrocephalus, Prominent fingertip pads, High palate, Anal at...	OMIM:147920
Faciocardiomelic Syndrome	Polydactyly, Common atrium, Slender long bone, Hypoplastic pelvis	OMIM:612731
Bardet-Biedl Syndrome	Aganglionic megacolon, Finger syndactyly, Cardiomyopathy, High palate, Postaxial polydactyly, Inf...	ORPHA:110
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Short finger, Polyhydramnios, Clinodactyly of the 5th finger, Single transverse palmar crease, Di...	ORPHA:459070
Cockayne Syndrome Type 3	Microphthalmia, Cardiomyopathy	ORPHA:90324
Alstrom Syndrome	Polydactyly, Dilated cardiomyopathy	OMIM:203800
Eisenmenger Syndrome	Atrioventricular canal defect, Bacterial endocarditis, Aortopulmonary window, Clubbing, Ascites, ...	ORPHA:97214
Adrenomyeloneuropathy	Dorsal column degeneration, Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:139399
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Genu valgum, Abnormal tibia morphology, Hydrocephalus, Patent foramen ovale, High palate, Hypertr...	ORPHA:363700
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Tarsal synostosis, Patent foramen ovale, Short foot, Pseudoep...	OMIM:157800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Abnormal left ventricle morphology, Hallux v...	ORPHA:466791
Liver Disease, Severe Congenital	Left atrial enlargement, Pulmonary edema, Protein-losing enteropathy, Chronic gastritis, Patent f...	OMIM:619991
Penile Agenesis	Rectal fistula, Atrophy of the spinal cord, Anal atresia, Tracheoesophageal fistula, Bilateral ta...	ORPHA:49
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Subarterial ventricular septal defect, Patent foramen o...	ORPHA:99094
Cutis Laxa, Autosomal Dominant 1	Cutis laxa, Redundant skin, Ventricular septal defect	OMIM:123700
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Bicuspid aortic valve, Rectal prolapse, Clinodactyly of the...	OMIM:194050
Primary Sjögren Syndrome	Purpura, Skin ulcer, Parotitis, Dry skin, Abnormal spinal cord morphology, Xerostomia	ORPHA:289390
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Coarse metaphyseal trabecularization, Hip dysplasia, Thickened cortex of long ...	OMIM:620558
Keutel Syndrome	Premature fusion of phalangeal epiphyses, Short hallux, Epiphyseal stippling, Pulmonic stenosis, ...	OMIM:245150
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Glossitis, Hydrocephalus, Atrophy of the spinal cord, Dehydration, Abnormal hear...	ORPHA:79282
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Clinodactyly of the 5th finger, Rectovaginal fistul...	OMIM:243800
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Rectoperineal fistula, Tetralogy of Fallot, Ventricular septal defect, Ante...	OMIM:618748
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Clinodactyly of the 5th finger, Intestinal malrotation, Volvulus, Overlapping toe, Ventricular se...	OMIM:616682
Superficial Siderosis	Abnormal spinal cord morphology, Atrophy of the spinal cord	ORPHA:247245
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Double outlet right ventricle, Ventr...	OMIM:615067
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Dry skin, Atrial septal defect, Ventricular sep...	OMIM:619268
Digeorge Syndrome	High, narrow palate, Truncus arteriosus, High palate, Bifid uvula, Cleft palate, Tetralogy of Fal...	OMIM:188400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Transposition of the great arteries, Aortopulmonary window, Tetralogy of Fallot, Atrial septal de...	ORPHA:99050
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Goodpasture Syndrome	Pallor	OMIM:233450
Sotos Syndrome	Increased arm span, Aganglionic megacolon, Pedal edema, Bilateral camptodactyly, 2-3 toe syndacty...	ORPHA:821
Norrie Disease	Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus, 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 Mmachc

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 Mmachc.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Proteotyping of knockout mouse strains reveals sex- and strain-specific signatures in blood plasma.	NPJ systems biology and applications (May 2021)	Mmachc^{tm1.1(NCOM)Mfgc}	PMC8163790
Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type.	Developmental biology (September 2020)	Mmachc^{tm1.1(NCOM)Mfgc}	32941884

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Mmachc^{tm299933(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mmachc^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Mmachc^{tm1.1(NCOM)Mfgc}	Reporter-tagged deletion allele (post Cre, with no selection cassette)	Mice, Tissue

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: Mmachc MGI:1914346

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Gross Pathology and Tissue Collection

Embryo LacZ

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

X-ray

Immunophenotyping

X-ray

X-ray

Combined SHIRPA and Dysmorphology

X-ray

Immunophenotyping

Eye Morphology

X-ray

Human diseases caused by Mmachc mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data