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Gene: Grhl2 MGI:2182543

Gene Summary

Name:

grainyhead like transcription factor 2

Synonyms:

BOM, clft3, 0610015A08Rik, grainyheadlike, Tcfcp2l3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal forebrain development	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal heart morphology	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal abdominal wall morphology	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
embryonic growth retardation	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Grhl2^em1(IMPC)Mbp	HET	E15.5	0.00
increased startle reflex	Grhl2^em1(IMPC)Mbp	HET	Early adult	3.77×10^-06
abnormal head shape	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
syndactyly	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal pericardium morphology	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Grhl2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased freezing behavior	Grhl2^em1(IMPC)Mbp	HET	Early adult	6.15×10^-05
abnormal neural tube morphology	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
exencephaly	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal optic vesicle formation	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal limb morphology	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal midbrain development	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal hindbrain development	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal blood vessel morphology	Grhl2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal neural tube closure	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

116 Images

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Gross Morphology Embryo E9.5

Images

31 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Gross Morphology Embryo E14.5-E15.5

Images

9 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Human diseases caused by Grhl2 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 Grhl2 (4 diseases)
Human diseases predicted to be associated with Grhl2 (1107 diseases)

The table below shows human diseases associated to Grhl2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia	OMIM:616029
Deafness, Autosomal Dominant 28		OMIM:608641
Corneal Dystrophy, Posterior Polymorphous, 4		OMIM:618031
Posterior Polymorphous Corneal Dystrophy		ORPHA:98973

The table below shows human diseases predicted to be associated to Grhl2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip	OMIM:600776
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Anterior encephalocele, Bilateral cleft palate, Coloboma, Omphalocele, Holoprosenc...	OMIM:601357
Synpolydactyly 1	Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th...	OMIM:186000
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl...	OMIM:174500
Parietal Foramina 3	Encephalocele	OMIM:609566
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft of the upper lip, Cleft palate, Anencephaly, Spina bifida	ORPHA:2476
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Syndactyly Type 2	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap...	ORPHA:93403
Anophthalmia Plus Syndrome	Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Cleft pa...	ORPHA:1104
Syndactyly Type 1	Toe syndactyly, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, 3-4 finger...	ORPHA:93402
Syndactyly, Type Iii	4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4...	OMIM:186100
Coloboma Of Macula With Type B Brachydactyly	Coloboma, Absent distal phalanges, Broad distal phalanx of the thumb, Bifid distal phalanx of the...	OMIM:120400
Isolated Dandy-Walker Malformation	Cleft palate, Encephalocele	ORPHA:217
Acalvaria	Hydrocephalus, Cleft palate, Holoprosencephaly, Spina bifida	ORPHA:945
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu...	ORPHA:3246
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Craniorachischisis	Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Omphalocele, Spinal dysraphism, Cervic...	ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Postaxial hand polydactyly, Syndactyly	OMIM:615938
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor...	ORPHA:1891
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Deep palmar crease, Coloboma	OMIM:600251
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Stillbirth, Abnormal hip bone morphology, Cleft palate, Upper limb phocomelia, Synda...	ORPHA:294975
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Triphalangeal Thumb With Polysyndactyly	Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly	OMIM:234280
Parietal Foramina 1	Cleft palate, Encephalocele	OMIM:168500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele	OMIM:213010
Schisis Association	Anencephaly, Encephalocele, Spina bifida, Cleft palate, Unilateral cleft lip	ORPHA:63862
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly, Abnormal thorax morphology	ORPHA:85203
Unilateral Ocular Duplication	Midline facial cleft, Cleft palate, Encephalocele	ORPHA:3374
Cocaine Embryofetopathy	Encephalocele	ORPHA:1911
Greig Cephalopolysyndactyly Syndrome	Trigonocephaly, Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Craniosynos...	OMIM:175700
Parietal Foramina 2	Encephalocele	OMIM:609597
Oculocerebrocutaneous Syndrome	Tessier cleft, Orofacial cleft, Hydrocephalus, Finger syndactyly, Abnormal rib morphology, Congen...	ORPHA:1647
Brachydactyly Type A7	Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal...	ORPHA:93397
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short...	OMIM:112600
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th...	OMIM:102510
Acrofacial Dysostosis, Catania Type	Tessier cleft, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Inguin...	ORPHA:1786
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Constricting Bands, Congenital	Tessier cleft, Encephalocele, Omphalocele, Hand polydactyly, Cleft palate, Abnormal rib cage morp...	OMIM:217100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Hydrocephalus, Orofacial cleft, Occipital encephalocele	ORPHA:324416
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc...	ORPHA:957
Syndactyly, Type Iv	Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta...	OMIM:186200
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Supernumerary Nostril	Tessier cleft	ORPHA:141096
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
2Q24 Microdeletion Syndrome	Coloboma, Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Hand clenching, Cl...	ORPHA:1617
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Cleft palate, Tessier cleft	OMIM:607597
Joubert Syndrome 15	Coloboma, Exencephaly, Preaxial polydactyly	OMIM:614464
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Syndactyly, Brachydactyly, Clinodactyly, Iris coloboma	OMIM:610023
Syndactyly Type 3	Finger syndactyly, Camptodactyly of finger, Short toe	ORPHA:93404
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Wahab Syndrome	Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,...	OMIM:615170
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Abnormal rib morphology, Rad...	ORPHA:3268
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Frontal bossing, Toe s...	ORPHA:380
Camptosynpolydactyly, Complex	Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly	OMIM:607539
Polydactyly, Postaxial, Type A1	Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa...	OMIM:174200
Polydactyly, Postaxial, Type A5	Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly	OMIM:263450
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Non-midline cleft of the upper lip, Short stature, Cleft palate	ORPHA:1791
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Oculomaxillofacial Dysostosis	Tessier cleft, Abnormality of the humerus, Camptodactyly of finger, Cleft palate, Brachydactyly, ...	ORPHA:1794
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli...	OMIM:183600
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Overlapping fingers, S...	ORPHA:952
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele	OMIM:200130
Hartsfield Syndrome	Lobar holoprosencephaly, Non-midline cleft of the upper lip, Cleft palate, Encephalocele	ORPHA:2117
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Bifid sternum	OMIM:140850
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, 2-3 toe syndactyly, Cleft palate, Short 5th finger, Small thenar eminence	OMIM:239800
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Crossed Polysyndactyly	Finger syndactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb	ORPHA:2935
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Caudal Duplication	Spinal cord lesion, Myelomeningocele, Spina bifida	ORPHA:1756
Abruzzo-Erickson Syndrome	Coloboma, Cleft palate, Short toe, Chorioretinal coloboma, Brachydactyly, Radioulnar synostosis, ...	ORPHA:921
Microphthalmia, Isolated 4	Postaxial polydactyly, Coloboma	OMIM:613094
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s...	ORPHA:157801
Congenital Herpes Simplex Virus Infection	Intrauterine growth retardation, Hydranencephaly	ORPHA:293
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Chiari Malformation Type Ii	Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida	OMIM:207950
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Brachycephaly, Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Cr...	OMIM:614416
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ...	OMIM:605289
Frontonasal Dysplasia 1	Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Coloboma, Postaxial hand polydact...	OMIM:136760
Abruzzo-Erickson Syndrome	Coloboma, Cleft palate, Radioulnar synostosis	OMIM:302905
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus excavatum, Camptodactyly of finger, Cle...	ORPHA:376
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate	OMIM:613456
Ritscher-Schinzel Syndrome 1	Brachycephaly, Prominent occiput, Hydrocephalus, Coloboma, Aortic valve stenosis, Pulmonic stenos...	OMIM:220210
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands	OMIM:185900
Meckel Syndrome, Type 8	Occipital encephalocele, Cleft palate, Encephalocele	OMIM:613885
Gómez-López-Hernández Syndrome	Hydrocephalus, Turricephaly, Brachycephaly, Short stature	ORPHA:1532
Biemond Syndrome Type 2	Hydrocephalus, Coloboma, Preaxial polydactyly	ORPHA:141333
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Isolated Klippel-Feil Syndrome	Cleft palate, Spina bifida	ORPHA:2345
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Humero-Radial Synostosis	Tarsal synostosis, Abnormality of the wrist, Meningocele, Aplasia/Hypoplasia of the thumb, Elbow ...	ORPHA:3265
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Mosaic Trisomy 9	Abnormal lung lobation, Tessier cleft, Dextrocardia, Abnormal heart valve morphology, Spina bifid...	ORPHA:99776
Joubert Syndrome 16	Polydactyly, Coloboma, Encephalocele	OMIM:614465
Anencephaly 2	Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate	OMIM:619452
Craniofacial Microsomia 2	Submucous cleft palate, Dermal sinus tract	OMIM:620444
Ectrodactyly-Polydactyly Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp...	ORPHA:1892
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft palate, Anencephaly	OMIM:611561
15Q11Q13 Microduplication Syndrome	Finger syndactyly, Clinodactyly of the 5th finger	ORPHA:238446
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Short...	ORPHA:1908
Congenital Muscular Dystrophy, Fukuyama Type	Brachycephaly, Plagiocephaly, Hydrocephalus, Camptodactyly of finger, Dolichocephaly, Intrauterin...	ORPHA:272
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Dislocated radial head, Hypoplastic ischia, Aplasia/Hypoplasia o...	ORPHA:2839
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Myelomeningocele, Meningocele	ORPHA:101030
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Abnormal femur morphology, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the ...	ORPHA:2141
Meckel Syndrome 13	Occipital encephalocele	OMIM:617562
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Bardet-Biedl Syndrome 5	Polydactyly, Syndactyly, Brachydactyly	OMIM:615983
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Meckel Syndrome, Type 2	Cleft palate, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones	OMIM:600384
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Aminopterin Syndrome Sine Aminopterin	Brachycephaly, Inguinal hernia, Short stature, Frontal bossing, Arachnodactyly, Rudimentary posta...	OMIM:600325
Carpenter Syndrome	Polydactyly, Turricephaly, Genu valgum, Finger syndactyly, Cloverleaf skull, Postaxial hand polyd...	ORPHA:65759
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Enlarged Parietal Foramina	Occipital encephalocele, Cleft palate, Myelomeningocele	ORPHA:60015
Diprosopus	Non-midline cleft of the upper lip, Cleft palate, Anencephaly	ORPHA:1681
Pfeiffer Syndrome Type 1	Brachycephaly, Aqueductal stenosis, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short ...	ORPHA:93258
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Oculocerebrocutaneous Syndrome	Cleft palate, Orbital encephalocele	OMIM:164180
Craniotelencephalic Dysplasia	Frontal encephalocele	OMIM:218670
Oculoauriculofrontonasal Syndrome	Cleft palate, Encephalocele	ORPHA:398156
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Meckel Syndrome, Type 4	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Cleft palate	OMIM:611134
Pentasomy X	Delayed puberty, Plagiocephaly, Clinodactyly of the 5th finger, Small hand, Short stature, Campto...	ORPHA:11
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Hydrocephalus, Foot polydactyly, Short palm, Chorioretinal colobo...	ORPHA:268249
Lissencephaly 5	Hydrocephalus, Occipital encephalocele	OMIM:615191
Craniodigital-Intellectual Disability Syndrome	Short stature, Finger syndactyly, Brachycephaly, Spina bifida occulta	ORPHA:1514
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Terminal Osseous Dysplasia	Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of...	OMIM:300244
Neuralgic Amyotrophy	Scapular winging, Sprengel anomaly, Cleft palate, Upper limb amyotrophy, Syndactyly	ORPHA:2901
Meckel Syndrome, Type 3	Hydrocephalus, Occipital encephalocele, Cleft palate	OMIM:607361
Cerebrooculonasal Syndrome	Tessier cleft, Postaxial hand polydactyly	ORPHA:66625
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:1327
Ring Chromosome 21 Syndrome	Narrow palm, Short stature, Abnormal heart morphology, Holoprosencephaly, Syndactyly, Clinodactyl...	ORPHA:1445
Microphthalmia/Coloboma 4	Coloboma	OMIM:251505
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Bilateral single transverse palmar creases, Broad thumb, Camptodactyly of finger, ...	ORPHA:1236
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Spindle-shaped finger, Genu valgum, Delayed epiphyseal ossification, Pectus excavatum, Cutaneous ...	ORPHA:166024
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac...	DECIPHER:46
Mesomelic Dysplasia, Nievergelt Type	Brachycephaly, Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal syn...	ORPHA:2633
Joubert Syndrome 18	Occipital encephalocele, Cleft palate	OMIM:614815
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Hyperactivity, Resting tremor, Tremor, Ab...	ORPHA:3077
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Pai Syndrome	Cleft palate, Encephalocele	ORPHA:1993
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica...	OMIM:201000
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis, Brachycephaly	OMIM:612247
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Hydrocephalus, Ulnar deviation of the wrist, Unilambdoid synostosis...	OMIM:618577
Czeizel-Losonci Syndrome	Dextrocardia, Spina bifida occulta, Hitchhiker thumb, Hydrocephalus, Single transverse palmar cre...	ORPHA:2437
Microphthalmia/Coloboma 6	Coloboma	OMIM:613703
Joubert Syndrome 22	Coloboma, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe syndactyly	OMIM:615665
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger	OMIM:313350
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	1-4 finger syndactyly, Split hand, Camptodactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, 2-3 ...	OMIM:225280
Cerebrocostomandibular Syndrome	Hydranencephaly, Meningocele, Myelomeningocele, Spina bifida, Short stature, Cleft palate, Intrau...	ORPHA:1393
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Short stature, Holoprosencephaly, B...	ORPHA:2163
Diaphanospondylodysostosis	Short thorax, Enlarged thorax, Myelomeningocele, Missing ribs, Cleft palate, Narrow pelvis bone	ORPHA:66637
Amish Lethal Microcephaly	Cleft soft palate, Spina bifida	ORPHA:99742
Pallister-Hall-Like Syndrome	Hydrocephalus, Occipital encephalocele, Cleft palate	OMIM:241800
Muenke Syndrome	Brachycephaly, Plagiocephaly, Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epi...	OMIM:602849
Neural Tube Defects, Susceptibility To	Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Waardenburg Syndrome Type 1	Cleft palate, Spina bifida, Meningocele	ORPHA:894
Craniofacial Dyssynostosis With Short Stature	Brachycephaly, Hydrocephalus, Brachyturricephaly, Short stature, Frontal bossing, Abnormal shape ...	OMIM:218350
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Oligodacty...	ORPHA:93323
Joubert Syndrome 9	Encephalocele	OMIM:612285
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Proximal placement of thumb, Alobar holoprosencephaly, Dolichocephaly	OMIM:615433
Muenke Syndrome	Brachycephaly, Plagiocephaly, Tarsal synostosis, Hydrocephalus, Short foot, Coronal craniosynosto...	ORPHA:53271
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Short finger, Coloboma, 2-3 toe syndactyly, Tapered finger, Pectus excavatum, Long fingers, Broad...	OMIM:618659
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Metacarpal synostosis, Brachydactyly	ORPHA:35099
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Inguinal hernia, Hydrocephalus, Campto...	ORPHA:459061
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Brachycephaly, Limited elbow movement, Proximal placement of thumb,...	OMIM:300590
Pfeiffer Syndrome	3-4 toe cutaneous syndactyly, Hydrocephalus, Cloverleaf skull, Shortening of all middle phalanges...	OMIM:101600
Coffin-Lowry Syndrome	Inguinal hernia, Bifid sternum, Hyperextensibility of the finger joints, Narrow iliac wing, Singl...	OMIM:303600
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Iniencephaly	Orofacial cleft, Syringomyelia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomenin...	ORPHA:63259
Pseudoprogeria Syndrome	Cranium bifidum occultum	ORPHA:2985
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Narrow ches...	ORPHA:1263
Bartsocas-Papas Syndrome 1	Tessier cleft, Inguinal hernia, Ulnar bowing, Hypoplastic iliac wing, Oligodactyly, Short metacar...	OMIM:263650
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Bowing of the long bones, Short palm, Radioulnar syno...	ORPHA:171839
Joubert Syndrome 23	Polydactyly, Coloboma	OMIM:616490
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Lissencephaly 8	Occipital encephalocele	OMIM:617255
Distal Deletion 13Q	Abnormality of the hand, Anencephaly, Encephalocele, Abnormal metacarpal morphology, Abnormal car...	ORPHA:1590
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Brachycephaly, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pa...	OMIM:619721
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Cleft palate, Spina bifida	OMIM:616038
Proximal Symphalangism	Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ...	ORPHA:3250
Summitt Syndrome	Plagiocephaly, Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndacty...	ORPHA:3210
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Encephalocele, Finger syndactyly, Broad thumb, Flat occiput, Broad hallux phalanx,...	ORPHA:2211
3Mc Syndrome 3	Tessier cleft, Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly	OMIM:248340
White Forelock With Malformations	Clinodactyly of the 5th finger, Spina bifida occulta, Finger syndactyly, Dolichocephaly, Atrial s...	ORPHA:2475
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachycephaly, Turricephaly, Abnormal metacarpal morphology, Hydrocephalus, Frontal bossing, Brac...	ORPHA:93262
Meckel Syndrome, Type 10	Occipital encephalocele, Cleft palate, Anencephaly	OMIM:614175
Cleidocranial Dysplasia, Recessive Form	Brachycephaly, Severe short stature	OMIM:216330
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Polydactyly, Ventricular septal defect, Syndactyly	OMIM:602501
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Sho...	ORPHA:88630
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Fountain Syndrome	Short stature, Spina bifida occulta, Spina bifida	ORPHA:3219
Cree Mental Retardation Syndrome	Rocker bottom foot, Cleft soft palate, Coloboma, Pectus excavatum, Cutaneous finger syndactyly, A...	OMIM:606851
Craniosynostosis 6	Brachycephaly, Plagiocephaly, Turricephaly, Spina bifida occulta, Bicoronal synostosis, Parietal ...	OMIM:616602
Thanatophoric Dysplasia Type 2	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:93274
Charlie M Syndrome	Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Non-midline cleft of the ...	ORPHA:1406
15Q24 Microdeletion Syndrome	Abnormal thumb morphology, Proximal placement of thumb, Coloboma, Myelomeningocele, Abnormal toe ...	ORPHA:94065
Band Heterotopia	Hydrocephalus, Plagiocephaly	OMIM:600348
Triploidy	Meningocele, Hydrocephalus, Abnormal cardiac septum morphology, Finger syndactyly, Omphalocele, H...	ORPHA:3376
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Encephalocele, Midline facial cleft, Remnants of the hyaloid vascular system...	OMIM:603671
Frontorhiny	Cranium bifidum occultum, Cleft palate, Basal encephalocele, Encephalocele	ORPHA:391474
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t...	ORPHA:370010
2Q31.1 Microdeletion Syndrome	Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Inguinal h...	ORPHA:251014
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Bilateral single transverse palmar creases, Brachycephaly, Abnormal thumb morphology, Abnormality...	ORPHA:2511
Pentalogy Of Cantrell	Orofacial cleft, Anencephaly, Encephalocele, Hydrocephalus, Non-midline cleft of the upper lip, C...	ORPHA:1335
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Sprengel anomaly, Syndactyly, ...	OMIM:173800
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
3C Syndrome	Abnormal hip bone morphology, Prominent occiput, Pulmonic stenosis, Abnormal mitral valve morphol...	ORPHA:7
Joubert Syndrome 7	Encephalocele	OMIM:611560
Laurence-Moon Syndrome	Bilateral single transverse palmar creases, Brachycephaly, Finger syndactyly, Short stature, Hand...	ORPHA:2377
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Coloboma, Short long bone, Metaphyse...	ORPHA:85167
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Rhizomelia, Clinodactyly of the 3rd finger, Hyperextensibility of the finger joint...	OMIM:618821
Potocki-Shaffer Syndrome	Brachycephaly, Turricephaly, Parietal foramina, Single transverse palmar crease, 2-5 finger cutan...	OMIM:601224
Bresek Syndrome	Plagiocephaly, Hydrocephalus, Postaxial hand polydactyly, Growth delay, Intrauterine growth retar...	ORPHA:85284
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Cleft palate, Brachyd...	ORPHA:306542
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Spinal dysraphism, Tethered cord, Short stature	OMIM:617660
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Orofacial cleft, Clinodactyly of the 5th finger, Sandal gap, Finger...	ORPHA:1520
Monosomy 5P	Inguinal hernia, Finger syndactyly, Short stature, Intrauterine growth retardation, Small hand	ORPHA:281
Neurogenic Arthrogryposis Multiplex Congenita	Rocker bottom foot, Plagiocephaly, Elbow flexion contracture, Wrist flexion contracture, Hip cont...	ORPHA:1143
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Syndactyly, Clinodactyly, Iris coloboma	OMIM:300337
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Turricephaly, Finger syndactyly, Split hand, Micromelia, Short stature, Brachydact...	ORPHA:2145
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Pec...	OMIM:186500
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele	ORPHA:280195
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Inguinal hernia, Short distal phalanx of toe, Bipa...	ORPHA:1292
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Lateral clavicle hook, Hypoplasia of the radius, Narrow chest, Short ribs, Hypoplastic ilia, Micr...	OMIM:617895
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Brachycephaly, Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Hydrocephalus, Femo...	OMIM:207410
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho...	ORPHA:2378
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism, Cleft palate	ORPHA:1926
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Brachycephaly, Preaxial polydactyly, Ventricular septal defect, Bilateral talipes equinovarus, Po...	OMIM:618142
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Joubert Syndrome With Renal Defect	Hydrocephalus, Orofacial cleft, Cleft palate, Encephalocele	ORPHA:220497
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Single transverse palmar crease, Coloboma, Pectu...	ORPHA:329224
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Clinodactyly of the 5th finger, Inguinal hernia, Short thorax, Pectus excavat...	OMIM:619451
6P22 Microdeletion Syndrome	Hydrocephalus, Finger syndactyly, Clinodactyly	ORPHA:251046
Sclerosteosis	Diaphyseal undertubulation, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of ...	ORPHA:3152
ERI1-related disease	Brachycephaly, Limited elbow extension, Clinodactyly of the 5th finger, Inguinal hernia, Dislocat...	OMIM:608739
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Neural tube defect, Clinodactyly	OMIM:119580
Verheij Syndrome	Coloboma, Branchial cyst, Cleft palate, Short 5th finger, Clinodactyly, Hip dislocation	OMIM:615583
Frontonasal Dysplasia 2	Tessier number 13 facial cleft, Intrauterine growth retardation, Encephalocele	OMIM:613451
Holt-Oram Syndrome	Abnormal clavicle morphology, Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndact...	ORPHA:392
Brachydactyly, Type B1	Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br...	OMIM:113000
Joubert Syndrome 14	Hydrocephalus, Cleft palate, Encephalocele, Meningocele	OMIM:614424
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Myelomeningocele...	ORPHA:93322
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyl...	OMIM:614701
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Intellectual Developmental Disorder, Autosomal Dominant 26	Brachycephaly, Clinodactyly of the 5th finger, Inguinal hernia, Short stature, Decreased palmar c...	OMIM:615834
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Inguinal hernia, Patent foramen ovale, Camptodactyly, Bilateral talipes equinovaru...	OMIM:615539
Crouzon Syndrome	Brachycephaly, Turricephaly, Hydrocephalus, Multiple suture craniosynostosis, Frontal bossing, Ir...	ORPHA:207
Bardet-Biedl Syndrome 4	Polydactyly, Syndactyly, Brachydactyly	OMIM:615982
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ...	ORPHA:959
Joubert Syndrome With Ocular Defect	Hydrocephalus, Orofacial cleft, Cleft palate, Encephalocele	ORPHA:220493
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Meningocele, Spina bifida occulta, Finger syndactyly, Short thorax, Abnormal rib...	ORPHA:2311
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma	OMIM:274270
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morpholog...	ORPHA:1788
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Cleft palate, Syndactyly	OMIM:300484
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Overlapping fingers, Hydrocephalus, Camptodactyly, Pericardial effusion, Hand clen...	OMIM:617822
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Brachycephaly, Flat occiput, Atrioventricular canal defect, Short s...	OMIM:613792
Limb-Mammary Syndrome	Split hand, Camptodactyly, Split foot, Cleft palate, Syndactyly, Hallux valgus, Joint contracture...	OMIM:603543
Houge-Janssens Syndrome 2	Plagiocephaly, Hydrocephalus, Postaxial polydactyly, Broad hallux, Deviation of the 5th finger, H...	OMIM:616362
Congenital Vertical Talus	Rocker bottom foot, Equinus calcaneus, Myelomeningocele	ORPHA:178382
Isolated Hemihyperplasia	Inguinal hernia, Myelomeningocele, Asymmetry of the thorax	ORPHA:2128
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Coloboma, Patent foramen ovale...	OMIM:616789
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele	ORPHA:521308
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Triphalangeal thumb, Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar kerato...	ORPHA:2251
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Flat occiput	OMIM:618736
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, 2-3 toe cutaneous syndactyly, Atrioventricular canal defect, Broad thumb, Frontal ...	OMIM:617364
Joubert Syndrome	Hydrocephalus, Orofacial cleft, Encephalocele	ORPHA:475
Fraser Syndrome 1	Tessier cleft, Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Myelomeningocele, C...	OMIM:219000
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect,...	ORPHA:94066
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Cleft palate, Encephalocele	OMIM:224400
Treacher-Collins Syndrome	Tessier cleft, Cleft palate, Branchial fistula, Encephalocele	ORPHA:861
Cranioectodermal Dysplasia	Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo...	ORPHA:1515
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Hydrocephalus, Short stature, Coxa valga, Hip dislocation	OMIM:109120
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Cleft palate, Syndactyly...	OMIM:605282
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Dystonia, Abnormal fear-induced behavior, Exaggerated startle response	ORPHA:309246
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Mitral valve prolapse, Left ventricular ...	OMIM:245600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Clinodactyly of the 5th finger, Hydranencephaly, Single transverse palmar crease, 2-3...	OMIM:236500
Richieri-Costa/Guion-Almeida Syndrome	Brachycephaly, Spina bifida occulta, Abnormal digit morphology, Short stature, Palmoplantar cutis...	OMIM:268850
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft palate, Meningocele	ORPHA:1827
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
Isolated Split Hand-Split Foot Malformation	Aniridia, Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Waardenburg Syndrome, Type 1	Orofacial cleft, Myelomeningocele, Spina bifida	OMIM:193500
Coach Syndrome 2	Hydrocephalus, Coloboma, Chorioretinal coloboma	OMIM:619111
Aarskog-Scott Syndrome	Orofacial cleft, Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Single trans...	ORPHA:915
Meckel Syndrome, Type 6	Hydrocephalus, Occipital encephalocele, Cleft palate, Anencephaly	OMIM:612284
Apert Syndrome	Limited elbow movement, Brachyturricephaly, Broad thumb, Syndactyly, Craniosynostosis, Hydrocepha...	OMIM:101200
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly	ORPHA:404493
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Flat occiput, Hyperextensibility of the finger joints, Short stature, Arachnodacty...	ORPHA:505237
Bardet-Biedl Syndrome 8	Brachycephaly, Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Orofaciodigital Syndrome Ii	Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Hydrocephalus...	OMIM:252100
Adams-Oliver Syndrome	Abnormal metacarpal morphology, Encephalocele, Hydrocephalus, Absent toe, Abnormality of the uppe...	ORPHA:974
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus, Cranial asymmetry, Short stature, Growth delay, Double outlet right ventricle, Atr...	OMIM:614886
Pierpont Syndrome	Brachycephaly, Short finger, Deep palmar crease, Prominent fingertip pads, Short stature, Short p...	OMIM:602342
Contractural Arachnodactyly, Congenital	Brachycephaly, Limited elbow extension, Talipes equinovarus, Elbow flexion contracture, Wrist fle...	OMIM:121050
Coach Syndrome 1	Occipital encephalocele, Encephalocele	OMIM:216360
Camptobrachydactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar...	ORPHA:1319
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Brachycephaly, Clinodactyly of the 5th finger, Camptodactyly, Growt...	OMIM:179613
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele	ORPHA:228390
Chromosome 17P13.1 Deletion Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Proximal placement of thumb, Hydrocephalus, Elbow fle...	OMIM:613776
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Cloverleaf skull, Finge...	ORPHA:93259
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Abnormality of the hand, Patent foramen ovale, Camptodactyly, Short...	ORPHA:369891
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Abnormality of the hand, Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Delayed puberty, Triphalangeal thumb, Finger syndactyly, Trigonocephaly, Frontal bossing, Short s...	ORPHA:2994
Trisomy 18	Anencephaly, Non-midline cleft of the upper lip, Spina bifida, Short stature, Growth delay, Cleft...	ORPHA:3380
Chromosome 6Pter-P24 Deletion Syndrome	Brachycephaly, Rocker bottom foot, Clinodactyly of the 5th finger, Hydrocephalus, Broad toe, Pate...	OMIM:612582
Thoraco-Abdominal Enteric Duplication	Abnormal tricuspid valve morphology, Dextrocardia, Meningocele	ORPHA:1759
Curry-Jones Syndrome	Finger syndactyly, Foot polydactyly, Broad thumb, Abnormality of thumb phalanx, Optic disc colobo...	ORPHA:1553
Congenital Muscular Dystrophy With Cerebellar Involvement	Hydrocephalus, Occipital encephalocele	ORPHA:370959
Microcephaly-Microcornea Syndrome, Seemanova Type	Growth delay, Brachycephaly, Short stature	ORPHA:2528
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda...	OMIM:135750
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Abnormal thumb morphology, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Schizophrenia 1	Short stature, Frontal bossing, Short proximal phalanx of the 4th toe, Syndactyly, Flat occiput	OMIM:181510
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Cleft palate, Encephalocele	ORPHA:1865
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Prominent occiput, Dolichocephaly, ...	OMIM:618672
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Cooper-Jabs Syndrome	Brachycephaly, Abnormal hip bone morphology, Proximal placement of thumb, Short stature, Frontal ...	ORPHA:1488
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Abnormal metaphysis morphology, Spina bifida occulta, Large iliac wing, Aortic val...	ORPHA:2780
Kury-Isidor Syndrome	Brachycephaly, Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Growth delay, ...	OMIM:619762
Pseudodiastrophic Dysplasia	Brachycephaly, Rhizomelia, Camptodactyly, Frontal bossing, Severe short stature, Phalangeal dislo...	OMIM:264180
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short stature, Arachnodactyly, Broad thumb, Growth...	ORPHA:251019
Holoprosencephaly 1	Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Short stature, Ethmocephaly, Single...	OMIM:236100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Coloboma, Patellar hypoplasia, Brachydactyly, Short fourth metatarsal	ORPHA:464288
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Genu varum, Coxa valga, Hypop...	ORPHA:950
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Polydactyly, Small placenta, Clinodactyly of the 5th finger, Inguin...	ORPHA:397590
Curry-Jones Syndrome	Unicoronal synostosis, Bicoronal synostosis, Triphalangeal hallux, Lipomyelomeningocele, Broad th...	OMIM:601707
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polydactyly, Narrow chest, Short long bone, Flat acetabular roof, Bowing of the long bones, Short...	OMIM:614091
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Thoracic kyphosis, Pectus excavatum, Arachnodactyly, Syndactyly, Clinodactyly	OMIM:619092
Inverted Duplicated Chromosome 15 Syndrome	Brachycephaly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Growth delay, Tetralogy of Fal...	ORPHA:3306
Weaver Syndrome	Abnormal metaphysis morphology, Sandal gap, Inguinal hernia, Finger syndactyly, Broad thumb, Camp...	ORPHA:3447
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo...	ORPHA:166119
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation	OMIM:620200
Chromosome 13Q33-Q34 Deletion Syndrome	Brachycephaly, Anencephaly, Encephalocele, Single transverse palmar crease, Small thenar eminence...	OMIM:619148
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Short stature, Frontal bossing, Atrial septal defect, Ventricular septal defect	OMIM:618330
Lessel-Kreienkamp Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Patent foramen ovale, Pulmonic stenosis, Frontal b...	OMIM:619149
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Ventricular hypertrophy, Cardiomyopathy, Brachyt...	OMIM:300280
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Brachycephaly, Craniosynostosis, Thickened calvaria	ORPHA:178377
Acrodysostosis 1 With Or Without Hormone Resistance	Brachycephaly, Short metatarsal, Disproportionate short-limb short stature, Cone-shaped epiphyses...	OMIM:101800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Tethered cord	OMIM:612918
Desbuquois Dysplasia 2	Monkey wrench femoral neck, Narrow chest, Short clavicles, Single transverse palmar crease, Short...	OMIM:615777
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida	ORPHA:3412
Verloove Vanhorick-Brubakk Syndrome	Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Cornelia De Lange Syndrome 5	Postnatal growth retardation, Brachycephaly, Limited elbow extension, Clinodactyly of the 5th fin...	OMIM:300882
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, Coloboma, Short 5th finger, 2-3 toe synd...	ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Filippi Syndrome	Postnatal growth retardation, Finger clinodactyly, Single transverse palmar crease, Cutaneous syn...	OMIM:272440
Fetal Trimethadione Syndrome	Brachycephaly, Bilateral single transverse palmar creases, Transposition of the great arteries, T...	ORPHA:1913
8Q12 Microduplication Syndrome	Brachycephaly, Atrial septal defect, Ventricular septal defect, Short foot	ORPHA:228399
Arthrogryposis, Distal, Type 4	Tibial deviation of toes, Camptodactyly of 2nd-5th fingers, Single transverse palmar crease, Cran...	OMIM:609128
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Brachycephaly, Short metatarsal, Upper limb undergrowth, Bilateral ...	ORPHA:439822
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Non-Distal Duplication 10Q	Short stature, Frontal bossing, Brachycephaly	ORPHA:1695
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Brachycephaly, Flat occiput, Short stature, Broad thumb, Down-sloping shoulders, Intrauterine gro...	OMIM:617452
Alg3-Cdg	Cardiomyopathy, Metaphyseal chondrodysplasia, Neural tube defect, Abnormal limb bone morphology	ORPHA:79321
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Non-midline cleft of the upper lip, Bilateral cleft palate, Meningocele	ORPHA:2003
Nail-Patella Syndrome	Short stature, Cleft palate, Spina bifida	OMIM:161200
Neu-Laxova Syndrome	Intrauterine growth retardation, Submucous cleft hard palate, Cleft palate, Spina bifida	ORPHA:2671
Monosomy 18P	Short stature, Holoprosencephaly, Brachydactyly, Brachycephaly	ORPHA:1598
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Sandal gap, Tapered distal phalanges of finger, Neonatal death, S...	OMIM:609638
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Clinodactyly of the 5th finger, Syndactyly, Omphalocele	OMIM:601163
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Clinodactyly of the 5th finger...	OMIM:619910
Sacral Defect With Anterior Meningocele	Myeloschisis, Hydromyelia, Meningocele, Hydrocephalus, Dermal sinus tract, Tethered cord, Myelome...	OMIM:600145
Pontocerebellar Hypoplasia, Type 11	Coloboma, Talipes equinovarus	OMIM:617695
Limb Body Wall Complex	Aplasia/hypoplasia involving bones of the upper limbs, Anencephaly, Myelomeningocele, Split foot,...	ORPHA:2369
Fg Syndrome Type 1	Plagiocephaly, Abnormal thumb morphology, Inguinal hernia, Prominent occiput, Hydrocephalus, Clin...	ORPHA:93932
Baraitser-Winter Syndrome 2	Orofacial cleft, Coloboma	OMIM:614583
Isolated Posterior Meningocele	Neural tube defect, Hydromyelia, Meningocele, Hydrocephalus, Lipomyelomeningocele, Tethered cord,...	ORPHA:268810
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Meckel Syndrome 14	Occipital encephalocele, Postaxial hand polydactyly, Bowing of the long bones, Decreased calvaria...	OMIM:619879
Thrombocytopenia-Absent Radius Syndrome	Cervical ribs, Fibular aplasia, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the ulna, F...	ORPHA:3320
Vacterl/Vater Association	Non-midline cleft of the upper lip, Occipital encephalocele, Cleft palate, Anencephaly	ORPHA:887
Pierpont Syndrome	Brachycephaly, Short finger, Deep palmar crease, Prominent fingertip pads, Excessive wrinkling of...	ORPHA:487825
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Hydrocephalus, Finger syndactyly, Foot polydactyly, Frontal bossing, Hand polydactyly, Toe syndac...	ORPHA:60040
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Brachycephaly, Plagiocephaly, Flat occiput	ORPHA:2898
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Postnatal growth retardation, Brachycephaly	OMIM:309545
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Brachycephaly, Clinodactyly of the 5th finger, Clinodactyly of the 2nd finger, Broad thumb, Short...	OMIM:620073
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Acetabular dysplasia, Hammertoe, Hydrocephalus, Short stature, Hip dysplasia, Intr...	OMIM:619833
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Patent foramen ovale, Abnormal heart morphology, Umbilical hernia, Bicuspid aortic...	ORPHA:500159
Coffin-Siris Syndrome 6	Plagiocephaly, Short stature, Frontal bossing, Brachydactyly, Atrial septal defect, Clinodactyly	OMIM:617808
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele	ORPHA:2318
Pseudotrisomy 13 Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele, Median cleft palate	OMIM:264480
Opitz-Kaveggia Syndrome	Plagiocephaly, Radial deviation of finger, Inguinal hernia, Hydrocephalus, Single transverse palm...	OMIM:305450
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh...	OMIM:157900
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Multicentric Osteolysis, Nodulosis, And Arthropathy	Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Mitral valve prolapse, Ost...	OMIM:259600
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow...	ORPHA:1106
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl...	OMIM:607323
Distal Deletion 10Q	Postnatal growth retardation, Brachycephaly, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5t...	ORPHA:96148
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, 2-3 toe syndactyly, Postaxial hand polydactyly, Broad hallux, 2-3 finger syndact...	OMIM:217085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Coloboma	OMIM:613153
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Lateral clavicle hook, Preaxial polydactyly, Narrow chest, Short long bone, Femoral bowing, Short...	OMIM:615503
Otodental Dysplasia	Coloboma	OMIM:166750
Joubert Syndrome 8	Occipital encephalocele	OMIM:612291
Craniosynostosis 2	Brachycephaly, Turricephaly, Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Tr...	OMIM:604757
German Syndrome	Brachycephaly, Short stature, Camptodactyly of finger, Dolichocephaly, Tetralogy of Fallot, Abnor...	ORPHA:2077
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Foot oligodactyly, Syndactyly, Brachydactyly, Calv...	OMIM:616589
Cleidocranial Dysplasia	Brachycephaly, Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal m...	ORPHA:1452
Stevenson-Carey Syndrome	Joint contracture of the hand, Coloboma, Camptodactyly, Hip dysplasia	OMIM:611961
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Abnormal metaphysis morphology, Narrow chest, Abnormal pelvis bone ossification, S...	ORPHA:93271
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Aromatic L-Amino Acid Decarboxylase Deficiency	Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl...	OMIM:608643
Even-Plus Syndrome	Brachycephaly, Patent foramen ovale, Epiphyseal dysplasia, Severe short stature, Dysplasia of the...	OMIM:616854
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Cutis Laxa, Autosomal Recessive, Type Iiia	Brachycephaly, Inguinal hernia, Congenital hip dislocation, Short stature, Frontal bossing, Umbil...	OMIM:219150
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele	OMIM:614195
Chromosome 2Q37 Deletion Syndrome	Brachycephaly, Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short stature, Sh...	OMIM:600430
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Coloboma, Tibial bowing, Bilateral ...	ORPHA:251028
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele	OMIM:224410
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly, Carpal osteolysis, Osteolysis involving bones of the lower limbs, Osteolysis invol...	ORPHA:371428
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Cleft palate, Encephalocele	OMIM:613150
Atelosteogenesis Type Ii	Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, Elbow flexion...	ORPHA:56304
Houge-Janssens Syndrome 3	Plagiocephaly, Muscular ventricular septal defect, Inguinal hernia, Single transverse palmar crea...	OMIM:618354
Grant Syndrome	Brachycephaly, Bowing of the long bones, Abnormal pelvic girdle bone morphology, Short stature, F...	ORPHA:2097
Basal Cell Nevus Syndrome 1	Polydactyly, Short 4th metacarpal, Palmar pits, Short distal phalanx of the thumb, Hydrocephalus,...	OMIM:109400
Alagille Syndrome	Delayed puberty, Brachycephaly, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Spina bif...	ORPHA:52
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Single transve...	OMIM:612651
Anauxetic Dysplasia 3	Plagiocephaly, Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping,...	OMIM:618853
Clark-Baraitser Syndrome	Brachycephaly, Dolichocephaly, Clinodactyly, Sandal gap	OMIM:617752
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l...	ORPHA:2256
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Encephalocele, Hydrocephalus, Cleft palate, Holoprosencephaly, Umbilical hernia	ORPHA:2166
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma, Clinodactyly of the 5th finger	OMIM:167730
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Bardet-Biedl Syndrome 9	Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax...	OMIM:615986
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Hydrocephalus, Delayed ossification of carpal bones, Abnormal heart morphology, Sh...	OMIM:239300
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Sandal gap, Tapered finger, Short foot, Short stature, Clinodactyly, Small hand	OMIM:618089
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Cutan...	OMIM:600987
Isolated Arrhinia	Tessier cleft	ORPHA:1134
Camptobrachydactyly	Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly	OMIM:114150
3P25.3 Microdeletion Syndrome	Brachycephaly, Proximal placement of thumb, Acromesomelia, Pulmonic stenosis, Broad thumb, Postax...	ORPHA:435638
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Intrauter...	OMIM:146510
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Rhizomelic arm shortening, Abnormal fibular epiphysis morphology, Short ...	ORPHA:96190
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly, Finger aplasia	OMIM:207770
Cataract-Intellectual Disability-Hypogonadism Syndrome	Brachycephaly, Abnormality of the hand, Short stature, Abnormal distal phalanx morphology of fing...	ORPHA:1387
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Spina bifida occulta, Prominent occiput, Camptodactyly, Short stature, Intrauterin...	OMIM:617360
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Cardiomegaly, Flared metaphysis, Hypertrophic cardiomyopathy, Decreased fibular di...	OMIM:616897
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Broad palm, Plagiocephaly, Short palm, Short foot	OMIM:614563
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Slender long bone, Short stature, Trigonocephaly, Decreased calvarial ossification...	OMIM:618265
Cartilage-Hair Hypoplasia	Abnormal hip bone morphology, Disproportionate short-limb short stature, Tibial bowing, Cardiomyo...	ORPHA:175
Holt-Oram Syndrome	Aplasia of the pectoralis major muscle, Proximal placement of thumb, Pulmonic stenosis, Aplasia o...	OMIM:142900
Aarskog-Scott Syndrome	Radial deviation of finger, Inguinal hernia, Hyperextensibility of the finger joints, Single tran...	OMIM:305400
Pagod Syndrome	Short stature, Spina bifida, Encephalocele, Meningocele	ORPHA:991
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Brachycephaly, Short stature	OMIM:609757
6Q25 Microdeletion Syndrome	Rocker bottom foot, Plagiocephaly, Clinodactyly of the 5th finger, Short stature, Camptodactyly o...	ORPHA:251056
Phaver Syndrome	Triphalangeal thumb, Myelomeningocele, Abnormal rib morphology, Broad thumb, Camptodactyly of fin...	ORPHA:2876
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Plagiocephaly, Frontal bossing, Hip contracture, Intrauterine growth retardation, ...	OMIM:616801
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Abnormal femoral neck/head morphology, Abnormality of the elbow, Hemiatrophy of up...	ORPHA:163649
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pectus excavatum, Broad ...	OMIM:212780
Gillessen-Kaesbach-Nishimura Syndrome	Brachycephaly, Narrow greater sciatic notch, Short long bone, Omphalocele, Abnormal heart morphol...	OMIM:263210
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Trigonocephal...	ORPHA:1587
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short hallux, Finger syndactyly, Brachyturricephaly, Broad thumb, Hallux var...	ORPHA:93260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Encephalocele	OMIM:253800
Kleefstra Syndrome Due To A Point Mutation	Brachycephaly, Plagiocephaly, Inguinal hernia, Short stature, Abnormal heart morphology, Umbilica...	ORPHA:261652
19P13.12 Microdeletion Syndrome	Brachycephaly, Deep palmar crease, Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly,...	ORPHA:254346
Lujan-Fryns Syndrome	Brachycephaly, Arachnodactyly, Camptodactyly of finger, Brachydactyly, Atrial septal defect	ORPHA:776
Joubert Syndrome With Hepatic Defect	Hydrocephalus, Orofacial cleft, Occipital encephalocele	ORPHA:1454
Duplication Of The Pituitary Gland	Cleft palate, Encephalocele	ORPHA:314621
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
2Q23.1 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Short stature, Short palm, Growth dela...	ORPHA:228402
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, Coloboma, Preaxial hand polydactyly, Iris co...	ORPHA:1297
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Tapered finger	ORPHA:352530
Rubinstein-Taybi Syndrome 2	Short 5th toe, Short first metatarsal, Prominent fingertip pads, Broad thumb, Broad hallux, Synda...	OMIM:613684
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Brachycephaly, Atrioventricular canal defect, Spina bifida occul...	ORPHA:500
49,Xxxxy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Talipes equinovarus, Short stature, Holoprosenceph...	ORPHA:96264
Cerebrooculonasal Syndrome	Postnatal growth retardation, Brachycephaly, Proboscis, Encephalocele, Hydrocephalus, Postaxial h...	OMIM:605627
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Al Kaissi Syndrome	Postnatal growth retardation, Brachycephaly, Deep palmar crease, Short stature, Intrauterine grow...	OMIM:617694
Otopalatodigital Syndrome Type 2	Hydrocephalus, Cleft palate, Encephalocele, Myelomeningocele	ORPHA:90652
Martsolf Syndrome 1	Brachycephaly, Slender ulna, Inguinal hernia, Talipes equinovarus, Cardiomyopathy, Short metacarp...	OMIM:212720
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hydrocephalus, Syndactyly, Intrauterine growth retardation, Clinoda...	ORPHA:2169
Focal Dermal Hypoplasia	Inguinal hernia, Abnormal cardiac septum morphology, Camptodactyly of finger, Finger syndactyly, ...	ORPHA:2092
Acrocallosal Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Coloboma, Postaxial hand poly...	OMIM:200990
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Orofacial cleft, Hypoplasia of the radius, Abnormal clavicle morphology, ...	ORPHA:958
Baller-Gerold Syndrome	Brachycephaly, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of ...	ORPHA:1225
Adams-Oliver Syndrome 5	Inguinal hernia, Patent foramen ovale, Right atrial enlargement, Pulmonic stenosis, Syndactyly, R...	OMIM:616028
Periventricular Nodular Heterotopia 1	Short finger, Clinodactyly, Syndactyly	OMIM:300049
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Preaxial polydactyly, Anencephaly, Narrow chest, Hydrocephalus, Short ribs, Retinal coloboma, Mic...	OMIM:616546
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Pectus excavatum...	OMIM:304120
Smith-Magenis Syndrome	Brachycephaly, Short stature, Short palm, Abnormal heart morphology, Abnormal forearm morphology,...	OMIM:182290
Potocki-Shaffer Syndrome	Delayed puberty, Parietal foramina, Brachycephaly	ORPHA:52022
Poland Syndrome	Aplasia of the pectoralis major muscle, Asymmetry of the thorax, Abnormal sternum morphology, Pec...	ORPHA:2911
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly, Broad distal phalanx of finger, Postaxial polydactyly, Sandal gap	OMIM:615761
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Hydrocephalus, Congenital hip dislocation, Syndactyly, Mitral valve prolapse, Umb...	OMIM:104350
Teebi Hypertelorism Syndrome 2	Cleft palate, Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Limited pronation/...	OMIM:605432
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing, 2-3 toe cutaneous syndactyly, Prominent fingertip pads	OMIM:615828
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Orofacial cleft, Abnormal shoulder morphology, Clinodactyly of the ...	ORPHA:568
Crouzon Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Hydrocephalus, Coronal craniosynostosis, Frontal boss...	OMIM:123500
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Cleft palate	ORPHA:261272
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Stillbirth, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Cleft palate, Inguinal hernia	ORPHA:1252
Joubert Syndrome 2	Hydrocephalus, Encephalocele	OMIM:608091
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Abnormal calvaria morphology, Finger syndactyly, Synostosis of carp...	ORPHA:1323
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Stillbirth, 2-5 finger syndactyly, Epiphyseal st...	OMIM:308050
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Aymé-Gripp Syndrome	Postnatal growth retardation, Brachycephaly, Plagiocephaly, Rocker bottom foot, Clinodactyly of t...	ORPHA:1272
Kbg Syndrome	Single transverse palmar crease, Thoracic kyphosis, Cutaneous syndactyly, Cleft palate, Cervical ...	ORPHA:2332
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Tapered distal phalanges of finger, Elbow flexion contracture, Short stature, Fron...	ORPHA:371364
Baller-Gerold Syndrome	Limited elbow movement, Turricephaly, Carpal bone aplasia, Oligodactyly, Severe intrauterine grow...	OMIM:218600
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease...	OMIM:311900
Intellectual Developmental Disorder, Autosomal Dominant 48	Bicuspid aortic valve, Plagiocephaly, Umbilical hernia, Intrauterine growth retardation, Ventricu...	OMIM:617751
Acrofrontofacionasal Dysostosis 2	Brachycephaly, Short stature, Broad thumb, Hand polydactyly, Broad hallux, Syndactyly	OMIM:239710
Holoprosencephaly	Encephalocele, Hydrocephalus, Branchial anomaly, Median cleft palate, Holoprosencephaly, Spinal d...	ORPHA:2162
Prune1-Related Neurological Syndrome	Plagiocephaly, Hypertrophic cardiomyopathy, Bilateral talipes equinovarus	ORPHA:544469
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Cranial asymmetry, Omphaloc...	OMIM:610828
Larsen-Like Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Radial deviation of the 4th finger, Short stature,...	OMIM:608545
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Long toe, Patent foramen ovale, Cutaneous syndactyly, Omphalocele, Long f...	OMIM:618316
Neurooculocardiogenitourinary Syndrome	Abnormality of the palmar creases, Coloboma	OMIM:618652
Pfeiffer Syndrome	Turricephaly, Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Shor...	ORPHA:710
Hallermann-Streiff Syndrome	Brachycephaly, Abnormality of the hand, Slender long bone, Proportionate short stature, Spina bif...	OMIM:234100
Robinow-Sorauf Syndrome	Plagiocephaly, Broad thumb, Broad hallux, Pansynostosis, Craniosynostosis, Hallux valgus, Duplica...	OMIM:180750
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Trisomy 8Q	Orofacial cleft, Deep palmar crease, Non-midline cleft of the upper lip, Myelomeningocele, Campto...	ORPHA:1752
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Hydrocephalus, Cloverleaf skull, Acrobrachycephaly, Finger synda...	ORPHA:87
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Turricephaly, Clinodactyly of the 5th finger, Abnormality of the elbow, Finger syndactyly, Synost...	ORPHA:1005
Acrofacial Dysostosis, Palagonia Type	Short 4th metacarpal, Spina bifida occulta, Finger syndactyly, Unilateral cleft lip, Small hand	ORPHA:1787
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Hydrocephalus, Occipital encephalocele, Cleft palate, Meningoencephalocele	OMIM:236670
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, Frontal bossing, Syndacty...	OMIM:180860
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2356
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Growth delay, Pericardial lymphangiectasia, Syndactyly, Camptodactyly	OMIM:616006
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Inguinal hernia, Femoral bowing, Short long bone, Metaphyseal spurs, Fractured rib...	OMIM:618188
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly	ORPHA:320385
Mosaic Trisomy 1	Rocker bottom foot, Orofacial cleft, Deviation of the 5th toe, Broad 2nd toe, Single transverse p...	ORPHA:1692
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Turricephaly, Platystencephaly, Dolichocephaly	OMIM:618774
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Pulmonic stenosis, Cranial asymmetry, Abnormal pulmonary valve morphology	ORPHA:137634
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu valgum, Inguinal hernia, Hydrocephalus, Dislocated radial head, Brachyturricephaly, Camptoda...	OMIM:182212
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Non-midline cleft of the upp...	ORPHA:246
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Brachycephaly, Abnormal heart morphology, Hypertrophic cardiomyopathy	ORPHA:70472
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Brachycephaly, Plagiocephaly, Limited elbow movement, Clinodactyly of the 5th finger, Proximal pl...	OMIM:610759
Joubert Syndrome 33	Syndactyly	OMIM:617767
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cleft palate, Encephalocele	OMIM:616300
Chromosome 15Q11.2 Deletion Syndrome	Plagiocephaly, Short finger, Single transverse palmar crease, Slender finger, Short stature, Arac...	OMIM:615656
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Brachycephaly, Plagiocephaly, Hydrocephalus, Short stature, Hip dysplasia, Short foot, Small hand	ORPHA:500055
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pectus carinatum, Fe...	OMIM:114290
Atelosteogenesis, Type I	Cleft palate, Encephalocele	OMIM:108720
Phocomelia, Schinzel Type	Fibular aplasia, Hypoplasia of the radius, Aplasia of the ulna, Abnormal tibia morphology, Mening...	ORPHA:2879
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Bilateral cleft palate	ORPHA:1997
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly	OMIM:615031
Srd5A3-Cdg	Palmoplantar keratoderma, Coloboma	ORPHA:324737
Acrofrontofacionasal Dysostosis	Brachycephaly, Abnormal epiphysis morphology, Micromelia, Short stature, Broad thumb, Camptodacty...	ORPHA:1784
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Intrauterine growth retardation, Postnatal growth retardation, Brachycephaly	OMIM:615419
Mosaic Trisomy 16	Large placenta, Single transverse palmar crease, Craniofacial asymmetry, Abnormal heart morpholog...	ORPHA:1708
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Plagiocephaly, Tricuspid valve prolapse, Aniridia, Inguinal hernia, Camptodactyly of finger, Doli...	ORPHA:1101
Kleefstra Syndrome 2	Growth delay, Plagiocephaly	OMIM:617768
Crane-Heise Syndrome	Finger syndactyly, Cleft palate, Short distal phalanx of finger, Toe syndactyly, Hypoplastic scap...	ORPHA:1512
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Broad distal phalanx of finger, 2-3 toe syndactyly, Postaxial polydactyly, Abnorma...	ORPHA:404440
Acrootoocular Syndrome	Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Pectus excavatum, Prominent ca...	ORPHA:2980
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Talipes equinovarus	OMIM:619972
Jacobsen Syndrome	Toe clinodactyly, Inguinal hernia, Finger syndactyly, Spina bifida, Short stature, Growth delay, ...	ORPHA:2308
Ritscher-Schinzel Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th finger, Prominent fingertip pads, Camptodac...	OMIM:300963
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Inguinal hernia	OMIM:618603
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic leg shortening, Long clavicles, Bell-shaped thorax, Early oss...	ORPHA:397715
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Short stature, Spina bifida	OMIM:162200
Joubert Syndrome 39	Occipital encephalocele	OMIM:619562
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Postnatal growth retardation, Brachycephaly, Sandal gap, Single transverse palmar crease, Microme...	OMIM:614800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Delayed puberty, Rocker bottom foot, Turricephaly, Proximal tibial and fibular fusion, Femoral bo...	ORPHA:95699
Aicardi Syndrome	Postnatal growth retardation, Cleft palate, Spina bifida	OMIM:304050
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma, Clinodactyly of the 5th finger	OMIM:617306
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Brachycephaly	OMIM:309541
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hydrocephalus, Encephalocele	OMIM:614643
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Neu-Laxova Syndrome 1	Short umbilical cord, Stillbirth, Small placenta, Hydranencephaly, Spina bifida, Cleft palate, Ne...	OMIM:256520
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Cleft palate, Iris coloboma	ORPHA:66629
Acrocardiofacial Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Hallux valgus, Truncus arteriosus, Split hand,...	ORPHA:2008
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Sandal gap	OMIM:615516
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Postnatal growth retardation, Plagiocephaly, Adducted thumb, Hydrocephalus, Dysplasia of the femo...	ORPHA:536467
Intellectual Developmental Disorder, Autosomal Dominant 74	Intrauterine growth retardation, Brachycephaly	OMIM:620688
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Sandal gap, Frontal bossing, Tapere...	OMIM:618430
Orofaciodigital Syndrome I	Polydactyly, Radial deviation of finger, Hydrocephalus, Short 2nd toe, Myelomeningocele, Short st...	OMIM:311200
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Anencephaly, Hydrocephalus, Omphalocele, Cle...	OMIM:313850
Silver-Russell Syndrome 3	Postnatal growth retardation, Clinodactyly of the 5th finger, Short stature, Frontal bossing, Syn...	OMIM:616489
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Short stature, Dextrotransposition of the great arteries, Brachydactyly, Ventricul...	OMIM:619995
Stiff-Person Syndrome	Depression, Opisthotonus, Exaggerated startle response	OMIM:184850
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent...	OMIM:101400
Gorlin Syndrome	Brachycephaly, Palmar pits, Hydrocephalus, Cardiac fibroma, Frontal bossing, Arachnodactyly, Brac...	ORPHA:377
Femoral-Facial Syndrome	Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Inguinal hern...	OMIM:134780
Solitary Median Maxillary Central Incisor	Cyclopia, Holoprosencephaly, Coloboma	OMIM:147250
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Abnormal toe morphology, Abnormal finger morphology	OMIM:163200
Multiple Pterygium-Malignant Hyperthermia Syndrome	Plagiocephaly, Inguinal hernia, Talipes equinovarus, Finger syndactyly, Hemiatrophy, Metatarsus a...	ORPHA:2215
Yunis-Varon Syndrome	Rocker bottom foot, Abnormal finger morphology, Cardiomyopathy, Aplasia of the 1st metacarpal, Sl...	ORPHA:3472
Noonan Syndrome 13	Limited elbow extension, Plagiocephaly, Cubitus valgus, Tapered finger, Bilateral talipes equinov...	OMIM:619087
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Hydrocephalus, Frontal bossing, Tapered finger, Talipes equinovarus	OMIM:613603
Joubert Syndrome 1	Plagiocephaly, Postaxial hand polydactyly, Occipital myelomeningocele, Chorioretinal coloboma, Op...	OMIM:213300
Distal Deletion 3P	Brachycephaly, Atrioventricular canal defect, Clinodactyly of the 5th finger, Inguinal hernia, Po...	ORPHA:1620
Vater/Vacterl Association	Postnatal growth retardation, Occipital encephalocele, Tethered cord, Spina bifida, Patent urachu...	OMIM:192350
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Abnormal fibula morphology, Abnormal femur morphology, Abnormality of the wrist, I...	ORPHA:2063
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Orofaciodigital Syndrome Type 6	Preaxial polydactyly, Mesoaxial polydactyly, Biparietal narrowing, Central Y-shaped metacarpal, S...	ORPHA:2754
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma	OMIM:619318
Chromosome 5P13 Duplication Syndrome	Brachycephaly, Turricephaly, Single transverse palmar crease, Frontal bossing, Long fingers, Larg...	OMIM:613174
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Long fingers, Tapered finger, 2-3 toe syndactyly	OMIM:218000
Menkes Disease	Brachycephaly, Metaphyseal spurs, Short stature, Metaphyseal widening, Intrauterine growth retard...	OMIM:309400
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, Umbilical hernia, Bicu...	OMIM:618164
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Chorioretinal coloboma, Meningocele	ORPHA:2031
2Q37 Microdeletion Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh...	ORPHA:1001
Rhombencephalosynapsis	Polydactyly, Hydrocephalus, Finger syndactyly, Short phalanx of finger, Complete duplication of t...	ORPHA:59315
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Plagiocephaly, Single transverse palmar crease, Broad thumb, Frontal bossing, Bicuspid aortic val...	OMIM:619720
Hamamy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Inguinal hernia, Long toe, Short 2nd finger, Long ...	OMIM:611174
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Coloboma, Rhizomelia, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:615877
Hunter-Macdonald Syndrome	Brachycephaly, Cubitus valgus, Clinodactyly of the 5th finger, Inguinal hernia, 2-3 toe syndactyl...	OMIM:611962
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Pectus excavatum, B...	OMIM:268310
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Short stature, Frontal bossing, Brachycephaly, Craniosynostosis	ORPHA:314575
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Brachycephaly	OMIM:618859
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Coloboma	OMIM:615249
Bohring-Opitz Syndrome	Deep palmar crease, Dislocated radial head, Mesomelic/rhizomelic limb shortening, Camptodactyly, ...	OMIM:605039
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Growth delay, Anterior plagiocephaly, Shortening of all distal phalanges of the fi...	OMIM:614749
Pontocerebellar Hypoplasia, Type 3	Short stature, Brachycephaly	OMIM:608027
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hypoplasia of the frontal bone, Ectrodacty...	OMIM:615465
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b...	ORPHA:96334
Fanconi Anemia	Hydrocephalus, Spina bifida, Short stature, Growth delay, Cleft palate, Umbilical hernia, Intraut...	ORPHA:84
Microphthalmia With Brain And Digit Anomalies	Proximal placement of thumb, Finger syndactyly, Chorioretinal coloboma, Postaxial foot polydactyl...	ORPHA:139471
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Branchial cyst, Camptodactyly, Tapered finger	ORPHA:435938
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Postnatal growth retardation, Normal pressure hydrocephalus, Plagiocephaly, Genu valgum, Cubitus ...	ORPHA:300570
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Plagiocephaly, Talipes equinovarus	OMIM:617481
Ring Chromosome 7 Syndrome	Brachycephaly, Situs inversus totalis, Plagiocephaly, Genu valgum, Clinodactyly of the 5th finger...	ORPHA:1449
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly	ORPHA:93950
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Cleft palate, Upper limb ...	ORPHA:989
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Bartsocas-Papas Syndrome	Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Cleft palate, Absent t...	ORPHA:1234
Meckel Syndrome	Anencephaly, Encephalocele, Hydrocephalus, Lobar holoprosencephaly, Cleft palate	ORPHA:564
Microgastria-Limb Reduction Defect Syndrome	Plagiocephaly, Abnormal metacarpal morphology, Abnormal finger morphology, Truncus arteriosus, Ol...	ORPHA:2538
Autosomal Recessive Multiple Pterygium Syndrome	Abnormal aortic valve morphology, Inguinal hernia, Spina bifida occulta, Finger syndactyly, Short...	ORPHA:2990
Lenz-Majewski Hyperostotic Dwarfism	Diaphyseal undertubulation, Inguinal hernia, Spina bifida occulta, Flared metaphysis, Hyperextens...	OMIM:151050
Antley-Bixler Syndrome	Brachycephaly, Turricephaly, Femoral bowing, Frontal bossing, Arachnodactyly, Camptodactyly of fi...	ORPHA:83
Weill-Marchesani Syndrome 2	Brachycephaly, Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the...	OMIM:608328
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Plagiocephaly, Muscular ventricular septal defect, Spina bifida occulta	OMIM:619227
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response	OMIM:616881
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Short stature, Growth delay, Brachydactyly, Craniosynostosis, Atrial septal defect...	ORPHA:457193
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Hypertrophic cardiomyopathy, Flat occiput, Overlapping toe, Atrial septal defect, ...	OMIM:619383
Cri-Du-Chat Syndrome	Orofacial cleft, Short metatarsal, Inguinal hernia, Single transverse palmar crease, High axial t...	OMIM:123450
Loeys-Dietz Syndrome 5	Brachycephaly, Increased arm span, Flexion contracture of toe, Inguinal hernia, Talipes equinovar...	OMIM:615582
Joubert Syndrome 21	Occipital encephalocele, Encephalocele	OMIM:615636
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Pericardial effusion, Frontal bossing, Atrial septal defect, Hip dislocation	OMIM:608776
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Brachycephaly, Hydrocephalus, Short stature, Pulmonic stenosis, Sho...	OMIM:257300
Joubert Syndrome 5	Occipital encephalocele, Cleft palate	OMIM:610188
Adnp Syndrome	Brachycephaly, Plagiocephaly, Polydactyly, Inguinal hernia, Sandal gap, Single transverse palmar ...	ORPHA:404448
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Brachycephaly, Clinodactyly of the 5th finger	ORPHA:1173
Marcus-Gunn Syndrome	Coloboma, Cleft palate	ORPHA:91412
Weill-Marchesani Syndrome 1	Brachycephaly, Broad phalanges of the hand, Broad skull, Broad metatarsal, Proportionate short st...	OMIM:277600
Cohen Syndrome	Delayed puberty, Genu valgum, Cubitus valgus, Abnormal hip bone morphology, Sandal gap, Slender t...	ORPHA:193
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad 2nd toe, Umbilical hernia, Clinodactyly, Transposition of the great arteries, Inguinal hern...	OMIM:280000
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Oculodentodigital Dysplasia, Autosomal Recessive	Brachycephaly, 2-4 toe cutaneous syndactyly, 4-5 finger syndactyly, Short stature, Frontal bossin...	OMIM:257850
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Brachycephaly, Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus deformity, C...	ORPHA:562528
Heterotaxy, Visceral, 1, X-Linked	Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the g...	OMIM:306955
Ritscher-Schinzel Syndrome 4	Brachycephaly, Plagiocephaly, Narrow palm, Short stature, Ulnar deviation of the hand, Hip dyspla...	OMIM:619435
Cantú Syndrome	Abnormal metaphysis morphology, Short hallux, Finger syndactyly, Abnormal heart valve morphology,...	ORPHA:1517
Sweeney-Cox Syndrome	Brachycephaly, Short clavicles, Patent foramen ovale, 2-5 toe syndactyly, Bilateral talipes equin...	OMIM:617746
Raine Syndrome	Brachycephaly, Plagiocephaly, Hydrocephalus, Brachyturricephaly, Bowing of the long bones, Microm...	OMIM:259775
Saethre-Chotzen Syndrome	Bilateral single transverse palmar creases, Brachycephaly, Plagiocephaly, Clinodactyly of the 5th...	ORPHA:794
20P13 Microdeletion Syndrome	Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Gorlin-Chaudhry-Moss Syndrome	Brachycephaly, Abnormal metacarpal morphology, Short stature, Coronal craniosynostosis, Umbilical...	ORPHA:2095
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Fibrochondrogenesis	Abnormal metaphysis morphology, Plagiocephaly, Abnormal diaphysis morphology, Micromelia, Short s...	ORPHA:2021
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida	OMIM:619480
Lateral Meningocele Syndrome	Inguinal hernia, Meningocele, Hydrocephalus, Short stature, Cleft palate, Umbilical hernia, Bicus...	OMIM:130720
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Frontal bossing, Hip dysplasia, Short distal phala...	OMIM:619293
Achondrogenesis, Type Ii	Brachycephaly, Short tubular bones of the hand, Disproportionate short-limb short stature, Hypopl...	OMIM:200610
22Q11.2 Deletion Syndrome	Meningocele, Hydrocephalus, Spina bifida, Short stature, Cleft palate, Umbilical hernia, Intraute...	ORPHA:567
Congenital Disorder Of Glycosylation, Type Iq	Coloboma	OMIM:612379
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Plagiocephaly, Atrioventricular canal defect, Branchial anomaly, Coloboma,...	ORPHA:453499
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Radial deviation of finger, Anencephaly, Hydrocephalus, ...	OMIM:249000
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Abnormal metacarpal morphology, Inguinal he...	ORPHA:2658
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, Turricephaly, Talipes equinovarus, Single transverse palmar...	OMIM:272950
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Patent foramen ovale, Congenital hip dislocation, Contracture of the proximal inte...	ORPHA:457279
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Inguinal hernia, Hydrocephalus, Postaxial polydact...	ORPHA:457284
Frank-Ter Haar Syndrome	Brachycephaly, Flat occiput, Flared metaphysis, Prominent coccyx, Patent foramen ovale, Short lon...	OMIM:249420
Duane Retraction Syndrome	Plagiocephaly, Hypoplasia of the radius, Triphalangeal thumb, Aniridia, Spina bifida occulta, Apl...	ORPHA:233
20Q11.2 Microduplication Syndrome	Brachycephaly, Limited elbow extension, Deep palmar crease, Clinodactyly of the 5th finger, Ingui...	ORPHA:363659
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Ventricular septal defect, Meningocele	OMIM:620511
Down Syndrome	Brachycephaly, Atrioventricular canal defect, Sandal gap, Hypoplastic iliac wing, Patent foramen ...	OMIM:190685
Craniofrontonasal Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short stature, Frontal bossing, Coronal craniosyno...	OMIM:304110
Wieacker-Wolff Syndrome, Female-Restricted	Brachycephaly, Rocker bottom foot, Radial deviation of the hand, Short stature, Hip contracture, ...	OMIM:301041
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly, Broad distal phalanx of finger, Proximal placement of thumb, Palmar edema, Enlarge...	ORPHA:2988
Dysosteosclerosis	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal metaphyseal trabeculation, Narrow ches...	OMIM:224300
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
19Q13.11 Microdeletion Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Growth delay, Toe ...	ORPHA:217346
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Disproportionate short-...	ORPHA:1507
Smith-Magenis Syndrome	Delayed puberty, Brachycephaly, Clinodactyly of the 5th finger, Short stature, Frontal bossing, H...	ORPHA:819
Larsen Syndrome	Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Cl...	ORPHA:503
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Plagiocephaly, Congenital finger flexion contractures, Short stature, Intraut...	ORPHA:363528
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Long clavicles, Inguinal hernia, Dislocated radial head, Camptodactyly, Rib f...	OMIM:265000
Peters Plus Syndrome	Disproportionate short-limb short stature, Pulmonic stenosis, Umbilical hernia, Intrauterine grow...	ORPHA:709
Familial Multiple Lipomatosis	Coloboma, Bowing of the long bones	ORPHA:199276
Cleidocranial Dysplasia 2	Plagiocephaly, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossificatio...	OMIM:620099
Achard Syndrome	Brachycephaly, Arachnodactyly, Broad skull	OMIM:100700
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, Cardiomegaly, 4-5 finger syndactyly, Cardiomyopathy, Camptodactyl...	ORPHA:158687
Nasopalpebral Lipoma-Coloboma Syndrome	Coloboma, Clinodactyly of the 5th finger	ORPHA:2399
Chromosome 2P16.1-P15 Deletion Syndrome	Postnatal growth retardation, Brachycephaly, Calcaneovalgus deformity, Camptodactyly, Short statu...	OMIM:612513
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Agitation, Tremor, Exaggerated startle response	OMIM:618056
Developmental And Epileptic Encephalopathy 1	Growth delay, Plagiocephaly	OMIM:308350
Frontofacionasal Dysplasia	Orofacial cleft, Cranium bifidum occultum	OMIM:229400
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Mesomelia, Intrauterine growth retardation, Gastroschisis, Hip dislo...	ORPHA:818
Cornelia De Lange Syndrome 1	Brachycephaly, Hypoplasia of the radius, Limited elbow extension, Clinodactyly of the 5th finger,...	OMIM:122470
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Brachycephaly	OMIM:300958
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Brachycephaly, Aqueductal stenosis, Plagiocephaly, Clinodactyly of the 5th finger, Hydrocephalus,...	OMIM:619512
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Delayed puberty, Brachycephaly, Abnormality of the hand, Ulnar deviation of the 3rd finger, Proxi...	ORPHA:456312
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly	ORPHA:2890
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Postnatal growth retardation, Dural ectasia, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Postnatal growth retardation, Dural ectasia, Spina bifida	ORPHA:363958
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense lo...	OMIM:269500
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Turricephaly, Short stature, Craniosynostosis, Skull asymmetry	OMIM:601853
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Clinodactyly of the 5th finger, Clubbing of fingers, Metaphyseal cupping, Short lo...	OMIM:156400
7Q31 Microdeletion Syndrome	Postnatal growth retardation, Plagiocephaly, Clinodactyly of the 2nd finger, Prominent fingertip ...	ORPHA:251061
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Short stature, Plagiocephaly, Brachycephaly	OMIM:618862
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Abnormal clavicle morphology, Palmoplantar keratoderma, Clinodact...	ORPHA:2710
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
De Barsy Syndrome	Postnatal growth retardation, Brachycephaly, Inguinal hernia, Congenital hip dislocation, Short s...	ORPHA:2962
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Abnormal metacarpal morphology, Short hallux	ORPHA:3224
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Camptodactyly, Omphalocele, Short stature, Frontal bossing, Broad thumb, Me...	OMIM:616894
Carpenter Syndrome 2	Trigonocephaly, Broad thumb, Umbilical hernia, Craniosynostosis, Transposition of the great arter...	OMIM:614976
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Broad thumb, Umbilical hernia, Aplasia/Hypoplasia of the 3rd toe, Hy...	OMIM:107480
Aprosencephaly And Cerebellar Dysgenesis	Craniosynostosis, Aprosencephaly, Talipes equinovarus	OMIM:601374
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Wildervanck Syndrome	Meningocele	ORPHA:3456
Abnormal Hair, Joint Laxity, And Developmental Delay	Plagiocephaly, Clinodactyly of the 5th toe, Short fifth metatarsal, 2-3 toe syndactyly, Increased...	OMIM:261990
Basel-Vanagaite-Smirin-Yosef Syndrome	Overlapping fingers, Inguinal hernia, Finger syndactyly, Single transverse palmar crease, 2-3 toe...	ORPHA:464738
Kabuki Syndrome	Orofacial cleft, Small hand, Hydrocephalus, Coloboma, Cleft palate, Short middle phalanx of finge...	ORPHA:2322
Knobloch Syndrome	Hydrocephalus, Occipital encephalocele	ORPHA:1571
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Clinodactyly of the 5th finger, Single transverse palmar crease, Prominent fingert...	OMIM:619188
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Narrow chest, Short palm, Cleft palate, Syndactyly, Brachydactyly, C...	OMIM:217980
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Inguinal hernia, Ventricular hypertrophy, Retinal coloboma, Short stature, Pulmonic stenosis, Syn...	OMIM:620654
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Pectus excavatum, Congenital hip dislocation, C...	OMIM:263750
7Q11.23 Microduplication Syndrome	Brachycephaly, Cubitus valgus, Inguinal hernia, Hydrocephalus, Single transverse palmar crease, G...	ORPHA:96121
48,Xxxy Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Inguinal hernia, Talipes equinovarus, Radioulnar s...	ORPHA:96263
Chopra-Amiel-Gordon Syndrome	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:619504
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Inguinal hernia, Growth delay, Aortic valve stenosis, Tetralogy of Fallot, Flat oc...	ORPHA:96147
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Severe intrauterine growth retardation, Wrist flexion contracture, Sh...	OMIM:268300
Momo Syndrome	Brachycephaly, Femoral bowing, Short stature, Frontal bossing, Short sternum, Large hands, Congen...	ORPHA:2563
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Non-midline cleft of the upper lip, Split hand, Abnormal rib morphology, Cleft...	ORPHA:1300
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Au-Kline Syndrome	Plagiocephaly, Deep palmar crease, Clinodactyly of the 5th finger, Lipomyelomeningocele, Postaxia...	OMIM:616580
X Small Rings	Clinodactyly of the 5th finger, Upper limb undergrowth, 2-3 toe syndactyly, Cutaneous syndactyly,...	ORPHA:96201
Short Stature With Microcephaly And Distinctive Facies	Proximal placement of thumb, Frontal bossing, Severe short stature, Syndactyly, Brachydactyly, Sh...	OMIM:615789
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Brachycephaly, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Growth delay, Short ...	OMIM:300260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Postnatal growth retardation, Clinodactyly of the 5th finger, Severe intrauterine growth retardat...	ORPHA:96182
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Dysostosis, Stanescu Type	Brachycephaly, Abnormal metaphysis morphology, Bowing of the long bones, Micromelia, Short statur...	ORPHA:1798
Orofaciodigital Syndrome Iii	Short sternum, Postaxial hand polydactyly, Pectus excavatum, Postaxial foot polydactyly	OMIM:258850
Galloway-Mowat Syndrome 4	Short stature, Plagiocephaly, Tapered finger	OMIM:617730
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
X-Linked Intellectual Disability, Wilson Type	Growth delay, Brachycephaly, Inguinal hernia	ORPHA:85290
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Arachnodactyly, Short palm, Toe syndactyly	ORPHA:73246
Tukel Syndrome	Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia	OMIM:609428
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Triphalangeal thumb, Abnormal metacarpal morphology, Abnormality of...	ORPHA:2673
Charge Syndrome	Polydactyly, Aqueductal stenosis, Abnormal tibia morphology, Clinodactyly of the 5th finger, Colo...	ORPHA:138
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect, Brachycephaly, Hip dysplasia	OMIM:618798
Knobloch Syndrome 2	Encephalocele	OMIM:618458
White-Sutton Syndrome	Brachycephaly, Patent foramen ovale, Short stature, Broad thumb, Brachydactyly, Intrauterine grow...	OMIM:616364
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Syndactyly, Finger aplasia	OMIM:149000
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Brachycephaly, Inguinal hernia, Sandal gap, Growth de...	ORPHA:261349
Bohring-Opitz Syndrome	Fixed elbow flexion, Metacarpophalangeal joint contracture, Coloboma, Pectus excavatum, Bilateral...	ORPHA:97297
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Coloboma, Retinal coloboma, Long hallux, Large hands, Bowing of the legs	OMIM:617107
Porphyria Due To Ala Dehydratase Deficiency	Depression, Agitation, Abnormal fear-induced behavior, Restlessness	ORPHA:100924
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly	ORPHA:77300
Bent Bone Dysplasia Syndrome 2	Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral bowing, Shor...	OMIM:620076
Focal Dermal Hypoplasia	Midclavicular aplasia, Aniridia, Short ribs, Short metacarpal, Myelomeningocele, Split foot, Umbi...	OMIM:305600
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Asymmetry of the thorax, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:1112
Osteogenesis Imperfecta	Abnormal femur morphology, Abnormal hip bone morphology, Prominent occiput, Dislocated radial hea...	ORPHA:666
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short stature, Brachyd...	ORPHA:2916
Chime Syndrome	Brachycephaly, Pulmonary valve atresia, Transposition of the great arteries, Aplasia/Hypoplasia o...	ORPHA:3474
Lateral Meningocele Syndrome	Inguinal hernia, Meningocele, Pectus excavatum, Umbilical hernia, Iris coloboma	ORPHA:2789
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Brachycephaly, Limited elbow extension, Metaphyseal cupping, F...	OMIM:250250
Malan Overgrowth Syndrome	Frontal bossing, Plagiocephaly, Scaphocephaly, Slender long bone	ORPHA:420179
Congenital Disorder Of Glycosylation, Type Iit	Brachycephaly, Sandal gap, Short stature, Short foot, Small hand	OMIM:618885
Cutis Laxa, Autosomal Recessive, Type Ib	Neonatal death, Spina bifida	OMIM:614437
Timothy Syndrome	Patent foramen ovale, Cutaneous syndactyly, Tetralogy of Fallot, Cardiomegaly, Ventricular septal...	OMIM:601005
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Clinodactyly of the 5th finger	OMIM:618828
Momo Syndrome	Brachycephaly, Retinal coloboma, Frontal bossing, Short sternum, Large hands	OMIM:157980
Rubinstein-Taybi Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Broad thumb, Abnormal distal phalanx morpholog...	ORPHA:783
Intellectual Developmental Disorder, Autosomal Dominant 1	Postnatal growth retardation, Brachycephaly, Clinodactyly of the 5th finger, Sandal gap, Short st...	OMIM:156200
Craniosynostosis And Dental Anomalies	Brachycephaly, Turricephaly, Lambdoidal craniosynostosis, 2-3 toe syndactyly, Short stature, Trig...	OMIM:614188
Adams-Oliver Syndrome 1	Cleft palate, Encephalocele	OMIM:100300
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Submucous cleft hard palate, Sandal gap	ORPHA:178303
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Exaggerated startle response	OMIM:617864
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Brachycephaly, Short foot, Short stature, Postaxial polydactyly, Hip dysplasia, Small hand, Atria...	OMIM:300968
Developmental And Epileptic Encephalopathy 110	Posterior plagiocephaly, Small hand	OMIM:620149
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Frontal bossing, Secundum atrial septal defect	OMIM:608688
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Pectus excavatum, Symphalangism of the thumb, Syndactyly, Clinoda...	ORPHA:1439
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Plagiocephaly, Turricephaly, Clinodactyly of the 5th finger, Bilateral talipes equinovarus, Broad...	OMIM:620224
Loeys-Dietz Syndrome 2	Inguinal hernia, Hydrocephalus, Patent foramen ovale, Absent distal phalanges, Bicuspid pulmonary...	OMIM:610168
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Genu valgum, Growth delay, Short femur, Ventricular septa...	OMIM:617798
Faciodigitogenital Syndrome, Autosomal Recessive	Clinodactyly of the 5th finger, Inguinal hernia, Short foot, Camptodactyly, Pectus excavatum, Met...	OMIM:227330
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Autosomal Dominant Keratitis	Coloboma, Aniridia	ORPHA:2334
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly, Omphalocele, Tetralogy of Fallo...	ORPHA:1519
Dihydropyrimidinase Deficiency	Growth delay, Plagiocephaly, Short phalanx of finger, Talipes equinovarus	OMIM:222748
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Trigonocephaly, Optic disc coloboma, Craniosynostosis, Atrial septal defect	ORPHA:1790
Trisomy 9P	Brachycephaly, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Brachy...	ORPHA:236
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2473
Down Syndrome	Delayed puberty, Brachycephaly, Bilateral single transverse palmar creases, Atrioventricular cana...	ORPHA:870
Knobloch Syndrome 1	Occipital encephalocele, Occipital meningocele, Spina bifida occulta	OMIM:267750
Alg9-Cdg	Brachycephaly, Atrial septal defect, Narrow greater sciatic notch, Rhizomelia, Abnormal left vent...	ORPHA:79328
Neurocutaneous Melanocytosis	Chorioretinal coloboma, Meningocele	ORPHA:2481
Orofaciodigital Syndrome Type 3	Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short sternum, Postaxial foot po...	ORPHA:2752
9P13 Microdeletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Short stature, Umbilical hernia, Absent palmar crease	ORPHA:324313
Cranioectodermal Dysplasia 2	Polydactyly, Plagiocephaly, Rhizomelia, Inguinal hernia, Cloverleaf skull, Patent foramen ovale, ...	OMIM:613610
Den Hoed-De Boer-Voisin Syndrome	Brachycephaly, Sandal gap, 2-3 toe syndactyly, Intrauterine growth retardation, Ventricular septa...	OMIM:619229
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Alpha-Mannosidosis, Infantile Form	Brachycephaly, Cranial hyperostosis, Genu valgum, Bilateral coxa valga, Communicating hydrocephal...	ORPHA:309282
Kbg Syndrome	Radial deviation of finger, Clinodactyly of the 5th finger, Single transverse palmar crease, Thor...	OMIM:148050
Tarp Syndrome	Rocker bottom foot, Finger syndactyly, Single transverse palmar crease, Pectus excavatum, Postaxi...	ORPHA:2886
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Disproportionate short-l...	OMIM:261540
Stolerman Neurodevelopmental Syndrome	Broad palm, Clinodactyly of the 5th finger, Syndactyly, Pectus excavatum	OMIM:618505
Coffin-Siris Syndrome 1	Sandal gap, Dislocated radial head, Prominent fingertip pads, Prominent interphalangeal joints, U...	OMIM:135900
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Brachycephaly, Proximal placement of thumb, Slender long bone, Shor...	OMIM:212066
Kleefstra Syndrome 1	Brachycephaly, Single transverse palmar crease, Brachydactyly, Conotruncal defect, Talipes equino...	OMIM:610253
Hyperphosphatasia-Intellectual Disability Syndrome	Brachycephaly, Plagiocephaly, Abnormal parietal bone morphology, Growth delay, Shortening of all ...	ORPHA:247262
Alg12-Cdg	Posterior plagiocephaly, Muscular ventricular septal defect, Clinodactyly of the 5th finger, Prox...	ORPHA:79324
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Plagiocephaly, Clinodactyly of the 5th finger, Clubbing of fingers, Short stature, Arachnodactyly...	OMIM:620083
Oculocerebrofacial Syndrome, Kaufman Type	Growth delay, Arachnodactyly, Flat occiput, Brachycephaly	ORPHA:2707
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Brachycephaly, Talipes equinovarus, Hyperextensibility of the finger joints, Single transverse pa...	OMIM:309583
Lathosterolosis	Meningocele, Postaxial hand polydactyly, Abnormal thoracic spine morphology, Toe syndactyly, Post...	ORPHA:46059
Donnai-Barrow Syndrome	Short sternum, Omphalocele, Iris coloboma, Umbilical hernia	OMIM:222448
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Coloboma, Postaxial polydactyly, Cleft palate, Hip dysplasia, Talipes equinovarus	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Coloboma, Postaxial polydactyly, Cleft palate, Hip dysplasia, Talipes equinovarus	ORPHA:352665
Alobar Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Hydrocephalus, Short stature, Growth delay, Abnormal hea...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Hydrocephalus, Short stature, Growth delay, Abnormal hea...	ORPHA:93926
Lobar Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Hydrocephalus, Short stature, Growth delay, Abnormal hea...	ORPHA:93924
Semilobar Holoprosencephaly	Cyclopia, Neural tube defect, Proboscis, Hydrocephalus, Short stature, Growth delay, Abnormal hea...	ORPHA:220386
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Esophageal Atresia	Coloboma, Cleft palate, Clinodactyly, Omphalocele	ORPHA:1199
Chilton-Okur-Chung Neurodevelopmental Syndrome	Plagiocephaly, Posterior plagiocephaly, Short finger, Broad finger, Single transverse palmar crea...	OMIM:619841
Warburg Micro Syndrome 2	Postnatal growth retardation, Clinodactyly of the 5th toe, Brachycephaly, Clinodactyly of the 4th...	OMIM:614225
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Mesomelic arm shortening, Acromesomelia, Short statur...	ORPHA:97360
Lig4 Syndrome	Growth delay, Brachycephaly, Biparietal narrowing, Clinodactyly of the 5th finger	ORPHA:99812
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia	OMIM:614520
Microphthalmia, Syndromic 5	Coloboma, Cleft palate	OMIM:610125
Intellectual Developmental Disorder, Autosomal Dominant 58	Short stature, Plagiocephaly, Single transverse palmar crease, Inguinal hernia	OMIM:618106
Turnpenny-Fry Syndrome	Brachycephaly, Plagiocephaly, Tricuspid valve prolapse, Tapered finger, Overlapping toe, Frontal ...	OMIM:618371
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Scarf Syndrome	Short sternum, Pectus carinatum, Inguinal hernia, Umbilical hernia	ORPHA:3134
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Brachycephaly, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short ...	OMIM:263520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Brachycephaly, Restrictive cardiomyopathy, Lambdoidal craniosynostosis, Hypoplasia of the ulna	OMIM:615398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydrocephalus, Occipital encephalocele, Anencephaly, Communicating hydrocephalus	OMIM:615287
Fraser Syndrome	Orofacial cleft, Encephalocele, Myelomeningocele, Umbilical hernia	ORPHA:2052
Prader-Willi Syndrome	Delayed puberty, Acromicria, Genu valgum, Radial deviation of finger, Short foot, Narrow palm, Sh...	OMIM:176270
Tay-Sachs Disease	Depression, Tremor, Laryngeal dystonia, Exaggerated startle response, Dystonia, Dysphagia, Mania	ORPHA:845
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Fontaine Progeroid Syndrome	Brachycephaly, Bicuspid aortic valve, Turricephaly, Deep palmar crease, Hydrocephalus, Absent dis...	OMIM:612289
Microphthalmia, Syndromic 6	Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t...	OMIM:607932
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short stature, Brachycephaly, Talipes equinovarus, Clinodactyly of the 5th finger	OMIM:619859
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, Clinoda...	OMIM:620113
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Hip subluxation, Inguinal hernia, Patent foramen ovale, Proportionate short statur...	OMIM:613457
Multiple Mitochondrial Dysfunctions Syndrome 7	Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia	OMIM:620423
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplasti...	OMIM:617925
Osteogenesis Imperfecta, Type Xi	Short stature, Protrusio acetabuli, Brachycephaly, Coxa vara	OMIM:610968
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Delayed puberty, Postnatal growth retardation, Brachycephaly, Proximal placement of thumb, Ulnar ...	OMIM:616263
14Q22Q23 Microdeletion Syndrome	Bilateral single transverse palmar creases, Brachycephaly, Short 4th metacarpal, Clinodactyly of ...	ORPHA:264200
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Charge Syndrome	Hypoplasia of the ulna, Coloboma, Absent tibia, Omphalocele, Retinal coloboma, Hand monodactyly, ...	OMIM:214800
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Doors Syndrome	Brachycephaly, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of t...	ORPHA:79500
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Tapered finger, Brachydactyly	OMIM:619680
Marshall-Smith Syndrome	Large sternal ossification centers, Clinodactyly of the 5th finger, Slender long bone, Hydrocepha...	OMIM:602535
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Coloboma, Clinodactyly of the 5th finger, Syndactyly, Hip dysplasia	OMIM:616975
Cdags Syndrome	Brachycephaly, Lambdoidal craniosynostosis, Parietal foramina, Short clavicles, Coronal craniosyn...	OMIM:603116
Cerebrofacioarticular Syndrome	Caudal appendage, Camptodactyly, Short stature, Pulmonic stenosis, Abnormal heart morphology, Syn...	ORPHA:314679
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
19P13.13 Microdeletion Syndrome	Brachycephaly, Sandal gap, Long fingers, Dolichocephaly, Clinodactyly	ORPHA:357001
Kaufman Oculocerebrofacial Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Single transverse palmar crease, Congenital hip di...	OMIM:244450
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Distal Deletion 12Q	Brachycephaly, Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen ov...	ORPHA:96149
Warburg Micro Syndrome 3	Postnatal growth retardation, Brachycephaly, Clinodactyly of the 5th finger	OMIM:614222
Renpenning Syndrome 1	Clinodactyly of the 5th finger, Coloboma, Pectus excavatum, Camptodactyly, Cleft palate, Synostos...	OMIM:309500
Trichohepatoneurodevelopmental Syndrome	Brachycephaly, Plagiocephaly, Fibular bowing, Clinodactyly of the 5th finger, Bilateral coxa valg...	OMIM:618268
Fraser Syndrome 3	Hydrocephalus, Cutaneous syndactyly, Short toe	OMIM:617667
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Postnatal growth retardation, Brachycephaly, Inguinal hernia, Hyperextensibility of the finger jo...	OMIM:213980
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia	OMIM:616579
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Growth delay, Plagiocephaly, Short foot, Hypertrophic cardiomyopathy	OMIM:615471
Chromosome 8Q21.11 Deletion Syndrome	Short metacarpal, Camptodactyly, Cleft palate, Syndactyly, Absent palmar crease	OMIM:614230
Incontinentia Pigmenti	Orofacial cleft, Spina bifida occulta, Finger syndactyly, Abnormal hand morphology, Absent hand, ...	ORPHA:464
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Rocker bottom foot, Camptodactyly, Growth delay, Brachydactyly, Finger clinodactyl...	OMIM:601353
White-Sutton Syndrome	Brachycephaly, Inguinal hernia, Short stature, Abnormal heart morphology, Iris coloboma	ORPHA:468678
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Pectus carinatum, Short sternum, Umbilical hernia	OMIM:312830
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Short stature, Fron...	ORPHA:1974
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Pectoralis hypoplasia, Growth delay, Tapered finger, Talipes equinovarus, Abnormal...	OMIM:254940
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cleft palate, Holoprosencephaly	OMIM:615948
Arboleda-Tham Syndrome	Plagiocephaly, Enlarged proximal interphalangeal joints, Genu valgum, Deviation of the hallux, Ha...	OMIM:616268
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Short 5th finger, Hydrocephalus, Patent foramen ovale, Camptodactyly, Fron...	OMIM:607872
Autosomal Dominant Robinow Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Finger syndactyly, Pectus carinatum, Pectus exca...	ORPHA:3107
Combined Oxidative Phosphorylation Deficiency 25	Pectus carinatum, Syndactyly	OMIM:616430
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Oligodactyly, Cleft palate, Submucous cleft so...	ORPHA:69085
Schinzel-Giedion Syndrome	Neural tube defect, Inguinal hernia, Hypoplastic pubic bone, Tibial bowing, Camptodactyly, Fronta...	ORPHA:798
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Prominent occiput, Biparietal narrowing, Growth delay, Frontal bossing, Iris coloboma	ORPHA:2612
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Bilateral single transverse palmar creases, Finger syndactyly, Bilateral cleft palate, Palmoplant...	ORPHA:3253
Kleefstra Syndrome	Brachycephaly, Short stature, Tetralogy of Fallot, Bicuspid aortic valve, Ventricular septal defe...	ORPHA:261494
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Mandibuloacral Dysplasia Progeroid Syndrome	Postnatal growth retardation, Brachycephaly, Genu valgum, Deep palmar crease, Osteolytic defects ...	OMIM:619127
Osteogenesis Imperfecta, Type Xx	Intrauterine growth retardation, Plagiocephaly, Brachycephaly, Disproportionate short-limb short ...	OMIM:618644
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Postnatal growth retardation, Plagiocephaly, Slender finger, Short stature, Long fingers, Secundu...	OMIM:613355
Marshall Syndrome	Brachycephaly, Genu valgum, Short stature, Frontal bossing, Thickened calvaria	ORPHA:560
X-Linked Intellectual Disability, Armfield Type	Brachycephaly, Limited elbow extension, Inguinal hernia, Abnormal cardiac septum morphology, Shor...	ORPHA:85276
Faciocardiorenal Syndrome	Plagiocephaly, Tricuspid valve prolapse, Endocardial fibroelastosis	ORPHA:1973
Wiedemann-Rautenstrauch Syndrome	Thin long bone diaphyses, Long toe, Hydrocephalus, Dysplastic pulmonary valve, 2-3 toe syndactyly...	ORPHA:3455
Simpson-Golabi-Behmel Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Short 2nd finger, Finger syndactyly, Postaxial h...	ORPHA:373
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Humeroradial Synostosis	Brachycephaly, Humeroradial synostosis	OMIM:236400
Microphthalmia, Syndromic 3	Coloboma, Supernumerary ribs, Missing ribs, Rib fusion	OMIM:206900
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Cardiomyopathy, Flat acetabular roof, Absent thumb, I...	OMIM:216340
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Warburg Micro Syndrome 4	Short stature, Brachycephaly, Severe postnatal growth retardation	OMIM:615663
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Genu valgum, Hydrocephalus, Tapered distal phalanges of finger, Coloboma, Single transverse palma...	OMIM:619475
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Bardet-Biedl Syndrome 1	Radial deviation of finger, Postaxial hand polydactyly, Foot polydactyly, Postaxial polydactyly, ...	OMIM:209900
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Postnatal growth retardation, 2-3 toe cutaneous syndactyly, Camptodactyly, Frontal bossing, 3-4 f...	OMIM:620029
Anterior Segment Dysgenesis 2	Coloboma, Aniridia	OMIM:610256
9Q33.3Q34.11 Microdeletion Syndrome	Brachycephaly, Plagiocephaly, Fixed elbow flexion, Patellar hypoplasia, Single transverse palmar ...	ORPHA:495818
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Brachycephaly	ORPHA:364028
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Turricephaly, Prominent occiput, Prominent fingertip pads, Broad thumb, Short distal phalanx of f...	OMIM:612474
Wiedemann-Rautenstrauch Syndrome	Brachycephaly, Talipes equinovarus, Slender long bone, Hydrocephalus, Hypoplastic ilia, Short fem...	OMIM:264090
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Delayed puberty, Brachycephaly, Hydrocephalus, Bacterial endocarditis, Mitral valve calcification...	ORPHA:2072
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Clinodactyly of the 5th finger, Short stature, Frontal bossing, Short thumb, Taper...	OMIM:616728
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Broad thumb, Syndactyly, Polydactyly, Inguinal hernia, Hydroceph...	OMIM:619534
Bloom Syndrome	Postnatal growth retardation, Clinodactyly of the 5th finger, Growth delay, Hand polydactyly, Dol...	OMIM:210900
Genitourinary And/Or Brain Malformation Syndrome	Acrania, Holoprosencephaly, Syndactyly, Omphalocele	OMIM:618820
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Brachycephaly, Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striatio...	OMIM:610442
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Ayme-Gripp Syndrome	Brachycephaly, Camptodactyly, Short stature, Pericarditis, Brachydactyly, Radioulnar synostosis, ...	OMIM:601088
Grange Syndrome	Coronary artery stenosis, Syndactyly, Brachydactyly, Bicuspid aortic valve, Finger clinodactyly	OMIM:602531
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Frontal bossing, Plagiocephaly	OMIM:617296
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Short stature...	OMIM:618223
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Hydrocephalus, Narrow iliac wing, Short stature, Hip contracture	ORPHA:3042
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Frontal bossing, Increased femoral anteversion, Dolichocephaly, Intrauterine growt...	OMIM:619005
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polydactyly, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx of finger, A...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polydactyly, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx of finger, A...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 29	Brachycephaly, Sandal gap, Frontal bossing, Cutaneous finger syndactyly, Broad hallux, Hip dysplasia	OMIM:616078
Fucosidosis	Cardiomegaly, Brachycephaly	ORPHA:349
Rapp-Hodgkin Syndrome	Palmoplantar keratoderma, 2-3 toe cutaneous syndactyly, Cleft palate, Syndactyly	OMIM:129400
Helsmoortel-Van Der Aa Syndrome	Polydactyly, Posterior plagiocephaly, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Pr...	OMIM:615873
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Brachycephaly, Slender long bone, Upper limb undergrowth, Restrictive cardiomyopathy, Abnormal he...	ORPHA:369837
Scalp-Ear-Nipple Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, Cardiac myxoma, Short stat...	OMIM:181270
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Brachycephaly, Plagiocephaly, Tarsal synostosis, Parietal foramina, Coronal craniosynostosis, Fro...	ORPHA:85199
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Posterior plagiocephaly, Sandal gap, Cutaneous syndactyly, Toe clinodactyly, Front...	OMIM:620330
Lig4 Syndrome	Brachycephaly, Clinodactyly of the 5th finger	OMIM:606593
Dubowitz Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Single transverse palmar crease, Syndactyly, Sub...	OMIM:223370
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Cornelia De Lange Syndrome	Delayed puberty, Bilateral single transverse palmar creases, Proximal placement of thumb, Oligoda...	ORPHA:199
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Brachycephaly, Abnormality of the palmar creases, Calcaneovalgus deformity, Long fingers, Tapered...	ORPHA:521445
Acrofrontofacionasal Dysostosis 1	Brachycephaly, Acetabular dysplasia, Short metacarpal, Short stature, Broad thumb, Short distal p...	OMIM:201180
Eec Syndrome	Orofacial cleft, Proximal placement of thumb, Aplasia/Hypoplasia of the thumb, Finger syndactyly,...	ORPHA:1896
Adenylosuccinase Deficiency	Growth delay, Brachycephaly	OMIM:103050
Asparagine Synthetase Deficiency	Irritability, Tremor, Exaggerated startle response	OMIM:615574
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Plagiocephaly, Postnatal growth retardation, Retinal coloboma	OMIM:300749
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Short 1st metacarpal, Wide distal femoral metaphysis, Single transverse palmar cr...	OMIM:269150
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Pectus excavatum, Genu varum, Asymmetry of the thorax	ORPHA:1969
Bosma Arhinia Microphthalmia Syndrome	Coloboma, Cleft palate, Inguinal hernia	OMIM:603457
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Pectus e...	OMIM:312870
Orofaciodigital Syndrome Type 1	Tarsal synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2750
Marfan Syndrome	Tricuspid valve prolapse, Emphysema, Inguinal hernia, Meningocele, Mitral valve calcification, Sp...	ORPHA:558
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Plagiocephaly, Clinodactyly of the 5th finger, Abnormal left ventricle morpholog...	ORPHA:466791
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Non-midline cleft of the upper lip, Cleft pala...	ORPHA:1071
Aicardi Syndrome	Delayed puberty, Plagiocephaly, Chorioretinal coloboma, Optic disc coloboma, Hip dysplasia, Hiatu...	ORPHA:50
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Brachycephaly	OMIM:618797
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Tricuspid valve prolapse, Talipes equinovarus, Arachnodactyly, Mitral valve prolap...	OMIM:601776
Degcags Syndrome	Polydactyly, Plagiocephaly, Genu valgum, Talipes equinovarus, Dysplastic pulmonary valve, Patent ...	OMIM:619488
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response	ORPHA:521426
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Growth delay, Frontal bossing, Plagiocephaly	OMIM:617193
Coffin-Siris Syndrome 12	Hip subluxation, Patent foramen ovale, Slender finger, Short stature, Frontal bossing, Broad thum...	OMIM:619325
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Plagiocephaly, Craniosynostosis, Aplasia/Hypoplasia involving the shoulder musculature, Syndactyl...	ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii	Plagiocephaly, Hip subluxation, Clinodactyly of the 5th finger, Inguinal hernia, Cone-shaped epip...	OMIM:150230
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Brachycephaly, Craniosynostosis, Tapered finger, Short foot, Camptodactyly, Short stature, Trigon...	OMIM:309590
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Growth delay, Plagiocephaly, Fractures of the long bones, Congenital hip dislocation	ORPHA:496641
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Long fingers	OMIM:156610
Developmental And Epileptic Encephalopathy 84	Plagiocephaly	OMIM:618792
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Absent palmar crease	ORPHA:284160
Angelman Syndrome	Flat occiput, Brachycephaly	OMIM:105830
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Finger syndactyly, Abnormality of the upper limb, Short lower limbs, Toe syndactyly	ORPHA:1556
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Abnormal proximal phalanx morphology of the hand, Coloboma, Broad...	ORPHA:353281
Arthrogryposis And Ectodermal Dysplasia	Short stature, Brachycephaly, Camptodactyly, Joint contracture of the hand	OMIM:601701
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Fibular hypoplasia, Hip subluxation, Patent foramen ovale, Short stature, Abnormal...	ORPHA:444077
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Cubitus valgus, Short metatarsal, Short metacarpal, Short stature, Frontal bossing...	OMIM:617157
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Dysphagia, Exaggerated startle response	OMIM:617527
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Craniofacial Microsomia 1	Occipital encephalocele, Transverse facial cleft, Hydrocephalus, Branchial anomaly, Cleft palate,...	OMIM:164210
Microphthalmia, Syndromic 1	Orofacial cleft, Joint contracture of the hand, Ciliary body coloboma, Radial deviation of finger...	OMIM:309800
Adult Syndrome	Split foot, Toe syndactyly, Finger syndactyly	ORPHA:978
Hallermann-Streiff Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Proportionate short stature, Frontal bossing, Shor...	ORPHA:2108
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Lacrimoauriculodentodigital Syndrome	Orofacial cleft, Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Abnormal...	ORPHA:2363
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Brachycephaly, Pulmonary valve atresia, Parachute mitral valve, Atrioventricular canal defect, Pa...	OMIM:265380
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma	OMIM:618183
Branchioskeletogenital Syndrome	Brachycephaly, Upper limb peromelia, Amelia involving the lower limbs, Umbilical hernia, Bladder ...	ORPHA:1299
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Proximal radio-ulnar synostosis, Large hands	ORPHA:2062
1P36 Deletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Abnormal heart valve morphology, Short stature, Fr...	ORPHA:1606
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Plagiocephaly, Brachycephaly, Tapered finger	OMIM:301072
Neurocardiofaciodigital Syndrome	Polydactyly, Double inlet left ventricle, Short stature, Tetralogy of Fallot, Syndactyly, Atrial ...	OMIM:619869
Orofaciodigital Syndrome Type 4	Orofacial cleft, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodac...	ORPHA:2753
X-Linked Intellectual Disability, Snyder Type	Brachycephaly, Camptodactyly, Short stature, Arachnodactyly, Long toe, Slender toe	ORPHA:3063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Dysphagia, Exaggerated startle response	OMIM:618367
Gapo Syndrome	Growth delay, Frontal bossing, Plagiocephaly, Umbilical hernia	OMIM:230740
Hereditary Acrokeratotic Poikiloderma	Abnormal hip bone morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal rib mor...	ORPHA:2907
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Brachycephaly, Hallux valgus, Cardiomyopathy, Short foot, Congenital hip disloca...	ORPHA:480880
Viss Syndrome	Rocker bottom foot, Coronary sinus enlargement, Arachnodactyly, Mitral valve prolapse, Umbilical ...	OMIM:619472
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal, Abnormal rib ...	ORPHA:3404
Monosomy 9P	Bilateral single transverse palmar creases, Brachycephaly, Proximal placement of thumb, Postaxial...	ORPHA:261112
Arima Syndrome	Occipital meningocele, Postaxial hand polydactyly, Chorioretinal coloboma, Postaxial foot polydac...	OMIM:243910
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Palmoplantar keratoderma, Flexion contracture of finger, Meningocele	ORPHA:1010
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Cerebrofaciothoracic Dysplasia	Short stature, Brachycephaly	ORPHA:1394
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Transposition of the great arteries, Muscular ventricular septal de...	OMIM:619503
Monosomy 22	Clinodactyly of the 5th finger, Prominent occiput, Finger syndactyly, Single transverse palmar cr...	ORPHA:96123
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Pericardial effusion, Craniosynostosis, Mild postnata...	ORPHA:2136
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Ebstein anomaly of the tricuspid valve	OMIM:608980
Mckusick-Kaufman Syndrome	Mesoaxial hand polydactyly, Postaxial hand polydactyly, Syndactyly, Congenital hip dislocation	OMIM:236700
Turner Syndrome Due To Structural X Chromosome Anomalies	Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madelung deformit...	ORPHA:99413
Mosaic Monosomy X	Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madelung deformit...	ORPHA:99228
Monosomy X	Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madelung deformit...	ORPHA:99226
Turner Syndrome	Short 4th metacarpal, Hypermobility of toe joints, Genu valgum, Cubitus valgus, Madelung deformit...	ORPHA:881
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, Prominent fingertip pads, Short stature, Growth delay, Long fingers, Tapered finger	OMIM:619950
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palate, Postaxial hand polydactyly, Occi...	OMIM:610829
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Inguinal hernia	OMIM:618548
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Finger aplasia	ORPHA:45358
Congenital Disorder Of Deglycosylation 1	Brachycephaly, Single transverse palmar crease, Intrinsic hand muscle atrophy, Short foot, Small ...	OMIM:615273
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Talipes ...	OMIM:620025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Coloboma	OMIM:253280
Congenital Myopathy 13	Short stature, Brachycephaly, Bilateral talipes equinovarus	OMIM:255995
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Short stature, Secundum atrial septal defect, Finger clinodactyly, Sagittal cranio...	OMIM:620455
Kindler Epidermolysis Bullosa	Short 4th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Palmop...	ORPHA:2908
Proteus Syndrome	Macrodactyly, Cranial hyperostosis, Abnormality of the wrist, Sirenomelia, Clinodactyly of the 5t...	ORPHA:744
Liver Disease, Severe Congenital	Left atrial enlargement, Plagiocephaly, Cardiomegaly, Inguinal hernia, Patent foramen ovale, Dila...	OMIM:619991
6Q Terminal Deletion Syndrome	Plagiocephaly, Hallux valgus, Dolichocephaly, Clinodactyly	ORPHA:75857
Faundes-Banka Syndrome	Delayed puberty, Plagiocephaly, Flexion contracture of toe, Frontal bossing, Intrauterine growth ...	OMIM:619376
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Brachycephaly, Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Cloverleaf skull, Femoral bow...	OMIM:201750
Bardet-Biedl Syndrome	Finger syndactyly, Cardiomyopathy, Short stature, Postaxial polydactyly, Abnormal heart morpholog...	ORPHA:110
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Abnormal heart morphology, Syndactyly, ...	ORPHA:261537
Fraser Syndrome 2	Short thorax, Cutaneous syndactyly	OMIM:617666
Aicardi-Goutières Syndrome	Short stature, Plagiocephaly, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:51
Mowat-Wilson Syndrome	Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Syndactyly, Bicuspid aortic ...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Pulmonic stenosis, Aortic valve stenosis, Arachnodactyly, Abnormal heart morphology, Syndactyly, ...	ORPHA:261552
Proximal Renal Tubular Acidosis	Coloboma	ORPHA:47159
Elsahy-Waters Syndrome	Brachycephaly, Cutaneous finger syndactyly, Shortening of all phalanges of fingers, Brachydactyly	OMIM:211380
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Anterior plagiocephaly, Bicoronal synostosis	OMIM:619718
Osteopetrosis With Renal Tubular Acidosis	Short stature, Plagiocephaly, Thickened calvaria, Brachycephaly	ORPHA:2785
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Dystonia, Exaggerated startle response, Dysphagia, Stereotypical hand wringing	ORPHA:438213
Common Variable Immunodeficiency	Brachycephaly	ORPHA:1572
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphagia, Motor stereotypy	OMIM:619522
Primrose Syndrome	Delayed puberty, Brachycephaly, Genu valgum, Narrow iliac wing, Short stature, Metatarsus adductu...	OMIM:259050
Aspartylglucosaminuria	Short stature, Thickened calvaria, Brachycephaly	OMIM:208400
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia	OMIM:616029
Posterior Polymorphous Corneal Dystrophy		ORPHA:98973
Corneal Dystrophy, Posterior Polymorphous, 4		OMIM:618031
Deafness, Autosomal Dominant 28		OMIM:608641

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 Grhl2

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 Grhl2.

No publications found that use IMPC mice or data for Grhl2.

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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
Grhl2^{tm50612(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Grhl2^em1(IMPC)Mbp	Exon Deletion	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: Grhl2 MGI:2182543

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E9.5

Human diseases caused by Grhl2 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

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Access Data Release 21.0 Data