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

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

116 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Gross Morphology Embryo E9.5

Images

31 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 (1108 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 lip, Neural tube defect, Bilateral cleft palate	OMIM:600776
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Emotional lability, 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, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Bilateral cleft...	OMIM:601357
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Parietal Foramina 3	Encephalocele	OMIM:609566
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida, Cleft palate, Non-midline cleft of the upper lip	ORPHA:2476
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Anophthalmia Plus Syndrome	Tessier cleft, Bilateral cleft palate, Spina bifida, Non-midline cleft of the upper lip, Cleft pa...	ORPHA:1104
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
Syndactyly, Type Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	OMIM:186100
Coloboma Of Macula With Type B Brachydactyly	Broad distal phalanx of the thumb, Type B brachydactyly, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Isolated Dandy-Walker Malformation	Encephalocele, Cleft palate	ORPHA:217
Acalvaria	Holoprosencephaly, Cleft palate, Hydrocephalus, Spina bifida	ORPHA:945
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Craniorachischisis	Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Omphaloce...	ORPHA:63260
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615938
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Deep palmar crease, Coloboma, Cleft palate	OMIM:600251
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Abnormal thorax morphology, Polydactyly, Upper limb phocomelia, Sti...	ORPHA:294975
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Parietal Foramina 1	Encephalocele, Cleft palate	OMIM:168500
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele	OMIM:213010
Schisis Association	Unilateral cleft lip, Encephalocele, Spina bifida, Anencephaly, Cleft palate	ORPHA:63862
Acropectoral Syndrome	Abnormal thorax morphology, Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Unilateral Ocular Duplication	Midline facial cleft, Encephalocele, Cleft palate	ORPHA:3374
Cocaine Embryofetopathy	Encephalocele	ORPHA:1911
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Atrial septal defect, Syn...	OMIM:175700
Parietal Foramina 2	Encephalocele	OMIM:609597
Oculocerebrocutaneous Syndrome	Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Mis...	ORPHA:1647
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi...	OMIM:102510
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Acrofacial Dysostosis, Catania Type	Tessier cleft, Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Inguina...	ORPHA:1786
Constricting Bands, Congenital	Abnormal rib cage morphology, Tessier cleft, Encephalocele, Talipes equinovarus, Hand polydactyly...	OMIM:217100
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Orofacial cleft, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	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	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing...	ORPHA:1617
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Tessier cleft, Ethmoidal encephalocele, Cleft palate	OMIM:607597
Joubert Syndrome 15	Coloboma, Exencephaly, Preaxial polydactyly	OMIM:614464
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Coloboma, Brachydactyly, Iris coloboma, Syndactyly	OMIM:610023
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly...	ORPHA:3268
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	ORPHA:380
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Frontofacionasal Dysplasia	Tessier cleft, Encephalocele, Short stature, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1791
Oculomaxillofacial Dysostosis	Tessier cleft, Camptodactyly of finger, Adducted thumb, Brachydactyly, Abnormality of the humerus...	ORPHA:1794
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Small hand, Overlapping fingers, Postaxial hand polydactyly, Clinodactyly of the 5...	ORPHA:952
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Encephalocele	OMIM:200130
Hartsfield Syndrome	Encephalocele, Lobar holoprosencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:2117
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Tessier cleft, 2-3 toe syndactyly, Small thenar eminence, Cleft palate	OMIM:239800
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Chorioretinal coloboma, Radioulnar synostos...	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, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Congenital Herpes Simplex Virus Infection	Intrauterine growth retardation, Hydranencephaly	ORPHA:293
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Brachycephaly, Cr...	OMIM:614416
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Frontonasal Dysplasia 1	Cranium bifidum occultum, Joint contracture of the hand, Clinodactyly, Radial deviation of finger...	OMIM:136760
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, Pectus excavatum, Cle...	ORPHA:376
Abruzzo-Erickson Syndrome	Radioulnar synostosis, Coloboma, Cleft palate	OMIM:302905
Frontonasal Dysplasia 3	Tessier cleft, Cleft palate	OMIM:613456
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:220210
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Cleft palate	OMIM:613885
Biemond Syndrome Type 2	Coloboma, Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Gómez-López-Hernández Syndrome	Short stature, Brachycephaly, Hydrocephalus, Turricephaly	ORPHA:1532
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Isolated Klippel-Feil Syndrome	Spina bifida, Cleft palate	ORPHA:2345
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Humero-Radial Synostosis	Elbow dislocation, Chorioretinal coloboma, Abnormality of the wrist, Aplasia/Hypoplasia of the th...	ORPHA:3265
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Mosaic Trisomy 9	Tessier cleft, Abnormal lung lobation, Abnormal heart valve morphology, Intrauterine growth retar...	ORPHA:99776
Joubert Syndrome 16	Coloboma, Encephalocele, Polydactyly	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	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft palate, Anencephaly	OMIM:611561
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Short stature, ...	ORPHA:1908
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Dilated cardiomyopathy, Camptodactyly of finger, Intrauterine growth retardation, ...	ORPHA:272
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Talipes equinovarus, Aplasia/hypopl...	ORPHA:2839
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Meckel Syndrome 13	Occipital encephalocele	OMIM:617562
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Cleft palate	OMIM:603194
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r...	OMIM:600325
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Oxycephaly, Preaxial foot polyd...	ORPHA:65759
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Enlarged Parietal Foramina	Myelomeningocele, Occipital encephalocele, Cleft palate	ORPHA:60015
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Aplasia/Hypoplasia of the t...	ORPHA:93258
Diprosopus	Anencephaly, Non-midline cleft of the upper lip, Cleft palate	ORPHA:1681
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Cleft palate	OMIM:164180
Craniotelencephalic Dysplasia	Frontal encephalocele	OMIM:218670
Oculoauriculofrontonasal Syndrome	Encephalocele, Cleft palate	ORPHA:398156
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate	OMIM:611134
Pentasomy X	Small hand, Plagiocephaly, Camptodactyly of finger, Radioulnar synostosis, Delayed puberty, Abnor...	ORPHA:11
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
Mycophenolate Mofetil Embryopathy	Tessier cleft, Chorioretinal coloboma, Orofacial cleft, Hydrocephalus, Foot polydactyly, Iris col...	ORPHA:268249
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Craniodigital-Intellectual Disability Syndrome	Short stature, Spina bifida occulta, Brachycephaly, Finger syndactyly	ORPHA:1514
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Terminal Osseous Dysplasia	Toe clinodactyly, Iris coloboma, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg ...	OMIM:300244
Neuralgic Amyotrophy	Sprengel anomaly, Syndactyly, Scapular winging, Cleft palate, Upper limb amyotrophy	ORPHA:2901
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus, Cleft palate	OMIM:607361
Cerebrooculonasal Syndrome	Tessier cleft, Postaxial hand polydactyly	ORPHA:66625
Camptodactyly Syndrome, Guadalajara Type 1	Short stature, Intrauterine growth retardation, Spina bifida	ORPHA:1327
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Abnormal heart morphology, Narrow palm, Short stature, Holoprosencephal...	ORPHA:1445
Microphthalmia/Coloboma 4	Coloboma	OMIM:251505
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Broad thumb, Camptodactyly of finger, Abnormal thorax morphology, Bilateral single...	ORPHA:1236
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ...	ORPHA:166024
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Cleft palate, Split ...	DECIPHER:46
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
Joubert Syndrome 18	Occipital encephalocele, Cleft palate	OMIM:614815
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Abnormal fear-induced behavior, Resting tremor, Tremor, Irritability, Aggressive behavior, Hypera...	ORPHA:3077
Pai Syndrome	Encephalocele, Cleft palate	ORPHA:1993
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly, Hydrocephalus	OMIM:612247
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Clinodactyly, Unilambdoid synostosis, Brachycephaly, Hydrocephalus, Ulnar deviatio...	OMIM:618577
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Thin calvarium, Single t...	ORPHA:2437
Microphthalmia/Coloboma 6	Coloboma	OMIM:613703
Joubert Syndrome 22	2-3 toe syndactyly, Coloboma, Postaxial foot polydactyly, Postaxial hand polydactyly	OMIM:615665
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ...	OMIM:225280
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Short stature, ...	ORPHA:1393
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Plagiocephaly, Brachycephaly, Brachydactyly, Short stature, Clino...	ORPHA:2163
Diaphanospondylodysostosis	Myelomeningocele, Missing ribs, Short thorax, Narrow pelvis bone, Cleft palate, Enlarged thorax	ORPHA:66637
Amish Lethal Microcephaly	Cleft soft palate, Spina bifida	ORPHA:99742
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus, Cleft palate	OMIM:241800
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Plagiocephaly, Clinodactyly, Short middle phalanx of toe, ...	OMIM:602849
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Waardenburg Syndrome Type 1	Meningocele, Spina bifida, Cleft palate	ORPHA:894
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Ventricular septal defect, Brachycephaly, Hydrocephalus, Short stature, Abnor...	OMIM:218350
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Joubert Syndrome 9	Encephalocele	OMIM:612285
Muenke Syndrome	Coronal craniosynostosis, Cone-shaped epiphysis, Plagiocephaly, Carpal synostosis, Brachycephaly,...	ORPHA:53271
Chromosome 3Q13.31 Deletion Syndrome	Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, Dolichocephaly, Proximal placement of thumb	OMIM:615433
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cone-shaped epiphysis, Short toe, Broad hallux, Short finger, 2-3 toe syndactyly, Hallux valgus, ...	OMIM:618659
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Brachydactyly, Metacarpal synostosis	ORPHA:35099
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Small hand, Trigonocephaly, Scaphocephaly, Bilateral single transverse pal...	ORPHA:459061
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Hypertrophic cardiomyopathy, Postnatal growth retardation, Intrauterine...	OMIM:300590
Pfeiffer Syndrome	Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe...	OMIM:101600
Coffin-Lowry Syndrome	Pectus carinatum, Bifid sternum, Inguinal hernia, Single transverse palmar crease, Tapered finger...	OMIM:303600
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Orofacial cleft, S...	ORPHA:63259
Pseudoprogeria Syndrome	Cranium bifidum occultum	ORPHA:2985
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Bartsocas-Papas Syndrome 1	Tessier cleft, Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac w...	OMIM:263650
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Toe syndactyly, Umbilical hernia, Turricephaly, Bowing of the long bones, Radioulnar synostosis, ...	ORPHA:171839
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Lissencephaly 8	Occipital encephalocele	OMIM:617255
Distal Deletion 13Q	Iris coloboma, Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal ...	ORPHA:1590
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Plagiocephaly, Prominent fingertip pads, Genu valgum, Arachn...	OMIM:619721
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida, Cleft palate	OMIM:616038
Summitt Syndrome	Plagiocephaly, Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Bra...	ORPHA:3210
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Brachyceph...	ORPHA:2211
3Mc Syndrome 3	Tessier cleft, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis, Cleft palate	OMIM:248340
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Dolichocephaly, Atrial septal defect, Spina bi...	ORPHA:2475
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Turricephaly, Brachycephaly, Abnormal metacarpal morphology, Hydrocephalus, Brachydactyly, Fronta...	ORPHA:93262
Meckel Syndrome, Type 10	Occipital encephalocele, Cleft palate, Anencephaly	OMIM:614175
Cleidocranial Dysplasia, Recessive Form	Severe short stature, Brachycephaly	OMIM:216330
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Ventricular septal defect, Hydrocephalus, Syndactyly	OMIM:602501
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Short thorax, Camptod...	ORPHA:88630
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Plagiocephaly, Syndactyly, Tapered finger	OMIM:618725
Fountain Syndrome	Short stature, Spina bifida occulta, Spina bifida	ORPHA:3219
Cree Impaired Intellectual Development Syndrome	Cutaneous finger syndactyly, Cleft soft palate, Coloboma, Aplasia/Hypoplasia of the ribs, Pectus ...	OMIM:606851
Craniosynostosis 6	Plagiocephaly, Parietal foramina, Right unilambdoid synostosis, Bicoronal synostosis, Turricephal...	OMIM:616602
Thanatophoric Dysplasia Type 2	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:93274
Charlie M Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly...	ORPHA:1406
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Myelomeningocele, Abnormal thumb morphology, Coloboma, Brachydactyly, P...	ORPHA:94065
Band Heterotopia	Plagiocephaly, Hydrocephalus	OMIM:600348
Triploidy	Finger syndactyly, Intrauterine growth retardation, Hydrocephalus, Omphalocele, Abnormal cardiac ...	ORPHA:3376
Acromelic Frontonasal Dysostosis	Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic...	OMIM:603671
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Cleft palate	ORPHA:391474
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Severe short stature, Cone-shaped epiphysis, Abnormality of the wrist, Bilateral single transvers...	ORPHA:2511
Pentalogy Of Cantrell	Encephalocele, Orofacial cleft, Hydrocephalus, Anencephaly, Non-midline cleft of the upper lip, C...	ORPHA:1335
Poland Syndrome	Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ...	OMIM:173800
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
3C Syndrome	Aortic valve stenosis, Finger syndactyly, Chorioretinal coloboma, Postnatal growth retardation, A...	ORPHA:7
Joubert Syndrome 7	Encephalocele	OMIM:611560
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Brachycephaly, B...	ORPHA:2377
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ...	ORPHA:85167
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Rhizomelia, Plagiocephaly, Short thumb, Prominent fingertip pads, Single transv...	OMIM:618821
Potocki-Shaffer Syndrome	Parietal foramina, Single transverse palmar crease, Turricephaly, Brachycephaly, 2-5 finger cutan...	OMIM:601224
Bresek Syndrome	Plagiocephaly, Growth delay, Intrauterine growth retardation, Hydrocephalus, Postaxial hand polyd...	ORPHA:85284
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Pectoral m...	ORPHA:306542
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Short stature, Spinal dysraphism, Tethered cord, Submucous cleft hard palate	OMIM:617660
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-slopin...	ORPHA:1520
Monosomy 5P	Small hand, Finger syndactyly, Intrauterine growth retardation, Inguinal hernia, Short stature	ORPHA:281
Hypomelanosis Of Ito	Radial deviation of finger, Clinodactyly, Hand polydactyly, Iris coloboma, Syndactyly	OMIM:300337
Neurogenic Arthrogryposis Multiplex Congenita	Plagiocephaly, Elbow flexion contracture, Abnormal heart morphology, Scaphocephaly, Acetabular dy...	ORPHA:1143
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Intrauterine growth retardation, Turricephaly, Brachycephaly, Brac...	ORPHA:2145
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele	ORPHA:280195
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Umbilical hernia, Frontal bossing, Intrauterine growth retardation, Inguinal hernia, Abnormal mit...	ORPHA:1292
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta...	OMIM:617895
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Preaxial polydactyly, Overlapping toe, Overlapping fingers, Intrauterine growth retardation, Vent...	OMIM:618142
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus, Cleft palate	ORPHA:1926
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Joubert Syndrome With Renal Defect	Hydrocephalus, Orofacial cleft, Encephalocele, Cleft palate	ORPHA:220497
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Broad thumb, Umbilical hernia, Inguinal hernia, Single transverse palmar crease, ...	ORPHA:329224
Cutis Laxa, Autosomal Recessive, Type Iie	Inguinal hernia, Deep palmar crease, Brachydactyly, Genu varum, Short thorax, Clinodactyly of the...	OMIM:619451
6P22 Microdeletion Syndrome	Hydrocephalus, Finger syndactyly, Clinodactyly	ORPHA:251046
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
ERI1-related disease	Slender metacarpals, Oligodactyly, Intrauterine growth retardation, Clinodactyly of the 5th finge...	OMIM:608739
Verheij Syndrome	Short 5th finger, Branchial cyst, Clinodactyly, Coloboma, Hip dislocation, Cleft palate	OMIM:615583
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Frontonasal Dysplasia 2	Intrauterine growth retardation, Tessier number 13 facial cleft, Encephalocele	OMIM:613451
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle...	ORPHA:392
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh...	OMIM:113000
Joubert Syndrome 14	Hydrocephalus, Meningocele, Encephalocele, Cleft palate	OMIM:614424
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Skull asymmetry, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syndactyly, Radiou...	OMIM:614701
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Intellectual Developmental Disorder, Autosomal Dominant 26	Umbilical hernia, Intrauterine growth retardation, Inguinal hernia, Decreased palmar creases, Bra...	OMIM:615834
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Mitral valve prolapse, Patent foramen ovale, Arachnodactyly, Talipes equinovarus...	OMIM:615539
Crouzon Syndrome	Multiple suture craniosynostosis, Frontal bossing, Turricephaly, Brachycephaly, Hydrocephalus, Ir...	ORPHA:207
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Joubert Syndrome With Ocular Defect	Hydrocephalus, Orofacial cleft, Encephalocele, Cleft palate	ORPHA:220493
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal rib morphology, Umbilical hernia, Camptodactyly of finger, Inguinal h...	ORPHA:2311
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial septal defect, Diaphyseal under...	OMIM:620663
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma	OMIM:274270
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Cleft palate, Polydactyly	OMIM:300484
Alkuraya-Kucinskas Syndrome	Hand clenching, Plagiocephaly, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equino...	OMIM:617822
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Atrioventricular canal defect, Postnatal growth retardation, Overlapping toe, Intra...	OMIM:613792
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Cleft palate, Split foot...	OMIM:603543
Houge-Janssens Syndrome 2	Plagiocephaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus, H...	OMIM:616362
Congenital Vertical Talus	Myelomeningocele, Rocker bottom foot, Equinus calcaneus	ORPHA:178382
Isolated Hemihyperplasia	Myelomeningocele, Asymmetry of the thorax, Inguinal hernia	ORPHA:2128
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Plagiocephaly, Clinodactyly, Patent foramen ovale, Talipes equinovarus, Brachycephaly, Coloboma, ...	OMIM:616789
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele	ORPHA:521308
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ...	ORPHA:2251
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Bicoronal synostosis, Brachycephaly, Spina bifida occulta, Flat occiput	OMIM:618736
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Broad thumb, Atrioventricular canal defect, Brachycephaly, Frontal ...	OMIM:617364
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Joubert Syndrome	Hydrocephalus, Orofacial cleft, Encephalocele	ORPHA:475
Fraser Syndrome 1	Tessier cleft, Aplasia/Hypoplasia of the sternum, Myelomeningocele, Cutaneous finger syndactyly, ...	OMIM:219000
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Fro...	ORPHA:1515
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Hydrocephalus, Encephalocele, Cleft palate	OMIM:224400
Treacher-Collins Syndrome	Tessier cleft, Branchial fistula, Encephalocele, Cleft palate	ORPHA:861
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Hydrocephalus, Short stature, Hip dislocation, Coxa valga	OMIM:109120
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response	ORPHA:309246
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Genu valgum, Mitral valve prolapse, Talipes equinovarus, Radioulnar synostos...	OMIM:245600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, Neonatal death, 2-3 toe syndactyly, Talipes equ...	OMIM:236500
Richieri-Costa/Guion-Almeida Syndrome	Abnormal digit morphology, Palmoplantar cutis laxa, Brachycephaly, Short stature, Spina bifida oc...	OMIM:268850
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Acromelic Frontonasal Dysplasia	Meningocele, Median cleft palate, Encephalocele	ORPHA:1827
Hoxha-Aliu Syndrome	Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Short distal phalanx of the 5th f...	OMIM:620662
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Split hand	ORPHA:2440
Waardenburg Syndrome, Type 1	Myelomeningocele, Orofacial cleft, Spina bifida	OMIM:193500
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Single...	ORPHA:915
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Cleft palate, Anencephaly	OMIM:612284
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	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	Broad thumb, Toe syndactyly, Flat occiput, Overlapping toe, Intrauterine growth retardation, Vent...	ORPHA:505237
Bardet-Biedl Syndrome 8	Postaxial polydactyly, Brachycephaly, Situs inversus totalis	OMIM:615985
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Tetralogy of Fallot, Absent hand, Calvarial sk...	ORPHA:974
Peroxisome Biogenesis Disorder 12A (Zellweger)	Scaphocephaly, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Cranial asymme...	OMIM:614886
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Deep palmar crease, Brachycephaly, Broad palm,...	OMIM:602342
Contractural Arachnodactyly, Congenital	Ulnar deviation of finger, Elbow flexion contracture, Scaphocephaly, Limited elbow extension, Ven...	OMIM:121050
Coach Syndrome 1	Occipital encephalocele, Encephalocele	OMIM:216360
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Postnatal growth retardation, Ventricular sep...	OMIM:179613
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele	ORPHA:228390
Chromosome 17P13.1 Deletion Syndrome	Plagiocephaly, Broad hallux, Umbilical hernia, Elbow flexion contracture, Long hallux, Turricepha...	OMIM:613776
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,...	ORPHA:93259
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Plagiocephaly, Clinodactyly, Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, V...	ORPHA:369891
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Trigonocephaly, Arach...	ORPHA:2994
Trisomy 18	Growth delay, Intrauterine growth retardation, Spina bifida, Short stature, Holoprosencephaly, An...	ORPHA:3380
Chromosome 6Pter-P24 Deletion Syndrome	Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Brachycep...	OMIM:612582
Curry-Jones Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Optic disc coloboma, Preaxial hand polydactyly, A...	ORPHA:1553
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:370959
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Brachycephaly, Growth delay	ORPHA:2528
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb	ORPHA:1825
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly, Short stature, Frontal bossing, Flat occiput	OMIM:181510
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrocephalus, Encephalocele, Cleft palate	ORPHA:1865
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Small hand, Plagiocephaly, Prominent occiput, Dolichocephaly, Brachycephaly, Hip dysplasia, Clino...	OMIM:618672
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Adenylosuccinate Lyase Deficiency	Brachycephaly, Flat occiput	ORPHA:46
Cooper-Jabs Syndrome	Umbilical hernia, Camptodactyly of finger, Frontal bossing, Abnormal hip bone morphology, Ventric...	ORPHA:1488
Pseudodiastrophic Dysplasia	Severe short stature, Rhizomelia, Elbow dislocation, Talipes equinovarus, Phalangeal dislocation,...	OMIM:264180
Osteopathia Striata-Cranial Sclerosis Syndrome	Severe short stature, Aortic valve stenosis, High iliac wing, Coarse metaphyseal trabecularizatio...	ORPHA:2780
Kury-Isidor Syndrome	Growth delay, Finger syndactyly, Frontal bossing, Ventricular septal defect, Talipes equinovarus,...	OMIM:619762
2Q32Q33 Microdeletion Syndrome	Toe clinodactyly, Broad thumb, Arachnodactyly, Talipes equinovarus, Brachycephaly, Short stature,...	ORPHA:251019
Holoprosencephaly 1	Tessier cleft, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Single ventricle, Sho...	OMIM:236100
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Coloboma, Brachydactyly, Patellar hypoplasia	ORPHA:464288
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Small placenta, Postnatal growth retardation, Intrauterine growth...	ORPHA:397590
Curry-Jones Syndrome	Iris coloboma, Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe syndactyly,...	OMIM:601707
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi...	OMIM:614091
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Clinodactyly, Arachnodactyly, Syndactyly, Pectus excavatum, Thoracic kyphosis	OMIM:619092
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Brachyce...	ORPHA:3306
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Inguinal hernia, Talipes equ...	ORPHA:3447
Congenital Disorder Of Glycosylation, Type Iiy	Brachycephaly, Hip subluxation	OMIM:620200
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Trigonocephaly, Overlapping toe, Distally placed thumb, Encephalocele, Single transv...	OMIM:619148
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Ventricular septal defect, Atrial septal defect, Short stature, Frontal bossing	OMIM:618330
Lessel-Kreienkamp Syndrome	Plagiocephaly, Scaphocephaly, Patent foramen ovale, Bicuspid aortic valve, Atrial septal defect, ...	OMIM:619149
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Ventricular hypertrophy, Brachyturrice...	OMIM:300280
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Thickened calvaria, Craniosynostosis, Brachycephaly	ORPHA:178377
Acrodysostosis 1 With Or Without Hormone Resistance	Disproportionate short-limb short stature, Calvarial hyperostosis, Long hallux, Cone-shaped epiph...	OMIM:101800
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Tethered cord	OMIM:612918
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Pectus carinatum, Broad thumb, Narrow chest, Monkey wrenc...	OMIM:615777
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida	ORPHA:3412
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me...	ORPHA:3429
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Postnatal growth retardation, Limited elbow extension, Brachycephaly,...	OMIM:300882
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short 5th finger, Iris coloboma, Broad thumb, Broad hallux, Preaxial hand polydactyly, Retinal co...	ORPHA:508498
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Filippi Syndrome	2-4 toe syndactyly, Finger clinodactyly, Postnatal growth retardation, Intrauterine growth retard...	OMIM:272440
8Q12 Microduplication Syndrome	Brachycephaly, Short foot, Atrial septal defect, Ventricular septal defect	ORPHA:228399
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Bilateral single transverse palmar creases,...	ORPHA:1913
Arthrogryposis, Distal, Type 4	Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes, Single tra...	OMIM:609128
Pde4D Haploinsufficiency Syndrome	Cone-shaped epiphysis, Short toe, Broad hallux, Upper limb undergrowth, Short middle phalanx of f...	ORPHA:439822
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Short stature, Brachycephaly	OMIM:300699
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Flat occiput, Overlapping toe, Intrauterine growth retardation, Down-sloping shoulde...	OMIM:617452
Non-Distal Duplication 10Q	Short stature, Brachycephaly, Frontal bossing	ORPHA:1695
Alg3-Cdg	Metaphyseal chondrodysplasia, Cardiomyopathy, Abnormal limb bone morphology, Neural tube defect	ORPHA:79321
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Nail-Patella Syndrome	Short stature, Spina bifida, Cleft palate	OMIM:161200
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Non-midline cleft of the upper lip, Bilateral cleft palate	ORPHA:2003
Neu-Laxova Syndrome	Intrauterine growth retardation, Cleft palate, Spina bifida, Submucous cleft hard palate	ORPHA:2671
Monosomy 18P	Short stature, Brachycephaly, Holoprosencephaly, Brachydactyly	ORPHA:1598
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,...	OMIM:609638
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Toe syndactyly, Omphalocele, Syndactyly	OMIM:601163
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Plagiocephaly, Secundum atrial septal defect, Arachnodactyly, Brachycephaly, Tr...	OMIM:619910
Sacral Defect With Anterior Meningocele	Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Teth...	OMIM:600145
Pontocerebellar Hypoplasia, Type 11	Talipes equinovarus, Coloboma	OMIM:617695
Fg Syndrome Type 1	Plagiocephaly, Clinodactyly of the 2nd finger, Finger syndactyly, Umbilical hernia, Prominent occ...	ORPHA:93932
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia/hypoplasia involving bones of the upper limbs, Encephalocele...	ORPHA:2369
Baraitser-Winter Syndrome 2	Orofacial cleft, Coloboma	OMIM:614583
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Shor...	OMIM:619217
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co...	ORPHA:268810
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Decreased calvarial ossification, Bowing of ...	OMIM:619879
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Aplasia/hypoplasi...	ORPHA:3320
Vacterl/Vater Association	Occipital encephalocele, Non-midline cleft of the upper lip, Cleft palate, Anencephaly	ORPHA:887
Pierpont Syndrome	Short toe, Prominent fingertip pads, Short finger, Excessive wrinkling of palmar skin, Deep palma...	ORPHA:487825
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Toe syndactyly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Foot polydactyly, Frontal bos...	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	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Broad hallux, Wide pubi...	OMIM:620073
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Intrauterine growth retardation, Acetabular dysplasia, Hydrocephalus, Hip dysplasi...	OMIM:619833
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Patent foramen oval...	ORPHA:500159
Coffin-Siris Syndrome 6	Plagiocephaly, Clinodactyly, Brachydactyly, Atrial septal defect, Short stature, Frontal bossing	OMIM:617808
Pseudotrisomy 13 Syndrome	Hydrocephalus, Holoprosencephaly, Median cleft palate, Encephalocele	OMIM:264480
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Encephalocele	ORPHA:2318
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Plagiocephaly, Prominent fingertip pads, Clinodactyly...	OMIM:305450
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Small thenar eminence, Atrial septal defe...	OMIM:607323
Distal Deletion 10Q	2-3 toe cutaneous syndactyly, Clinodactyly, Prominent fingertip pads, Sandal gap, Postnatal growt...	ORPHA:96148
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Orofacial ...	OMIM:217085
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Coloboma, Hydrocephalus	OMIM:613153
Filippi Syndrome	Severe short stature, Finger syndactyly, Frontal bossing, Intrauterine growth retardation, Bilate...	ORPHA:3255
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplasia, Acetabular spurs, ...	OMIM:615503
Otodental Dysplasia	Coloboma	OMIM:166750
Joubert Syndrome 8	Occipital encephalocele	OMIM:612291
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Turricephaly, Brachycephaly, Triphal...	OMIM:604757
German Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Brachycephaly, Abnormal cardiac septum morphology, ...	ORPHA:2077
Adams-Oliver Syndrome 6	Foot oligodactyly, Calvarial skull defect, Ventricular septal defect, Truncus arteriosus, Brachyd...	OMIM:616589
Cleidocranial Dysplasia	Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Genu...	ORPHA:1452
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Hydrocephalus	OMIM:614195
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Narrow chest, Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydac...	ORPHA:93271
Stevenson-Carey Syndrome	Camptodactyly, Joint contracture of the hand, Coloboma, Hip dysplasia	OMIM:611961
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Irritability, Tongue thrusti...	OMIM:608643
Even-Plus Syndrome	Epiphyseal dysplasia, Severe short stature, Dysplasia of the femoral head, Patent foramen ovale, ...	OMIM:616854
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Umbilical hernia, Intrauterine growth retardation, Inguinal hernia, T...	OMIM:219150
Chromosome 2Q37 Deletion Syndrome	Short toe, Type E brachydactyly, Brachycephaly, Subvalvular aortic stenosis, Short stature, Short...	OMIM:600430
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Slender finger, Small hand, Broad thumb, Broad hallux, Abnormal hip bone morphology, Tibial bowin...	ORPHA:251028
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsal bones, Mitral valve prol...	ORPHA:371428
Atelosteogenesis Type Ii	Elbow dislocation, Genu valgum, Broad phalanx, Bilateral talipes equinovarus, Short metacarpal, P...	ORPHA:56304
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele	OMIM:224410
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Encephalocele, Cleft palate	OMIM:613150
Houge-Janssens Syndrome 3	Plagiocephaly, Umbilical hernia, Muscular ventricular septal defect, Inguinal hernia, Single tran...	OMIM:618354
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Bowing of the long bone...	ORPHA:2097
Alagille Syndrome	Short distal phalanx of finger, Intrauterine growth retardation, Ventricular septal defect, Spina...	ORPHA:52
Endocrine-Cerebroosteodysplasia	Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa...	OMIM:612651
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Abnormal sternum morphology, Polydactyly, Down-sl...	OMIM:109400
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Severe short stature, Metaphyseal cupping, Plagiocephaly, Short m...	OMIM:618853
Clark-Baraitser Syndrome	Sandal gap, Brachycephaly, Dolichocephaly, Clinodactyly	OMIM:617752
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Frontal bossing, Aplasia of the proximal phalanges of the hand, Ventricular se...	ORPHA:2256
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Encephalocele, Orofacial cleft, Hydrocephalus, Holoprosencephaly, Cleft palate	ORPHA:2166
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Coloboma	OMIM:167730
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Plagiocephaly, Short toe, Abnormal heart morphology, Hydrocephalu...	OMIM:239300
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Small hand, Plagiocephaly, Sandal gap, Clinodactyly, Short stature, Short foot, Tapered finger	OMIM:618089
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul...	OMIM:600987
Isolated Arrhinia	Tessier cleft	ORPHA:1134
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
3P25.3 Microdeletion Syndrome	Broad thumb, Broad hallux, Overlapping toe, Ventricular septal defect, Postaxial polydactyly, 2-3...	ORPHA:435638
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular septal defect...	OMIM:146510
Paternal Uniparental Disomy Of Chromosome 5	Posterior plagiocephaly, Secundum atrial septal defect, Rhizomelic arm shortening, Short lower li...	ORPHA:96190
Aprosencephaly Syndrome	Finger aplasia, Aprosencephaly, Anencephaly	OMIM:207770
Cataract-Intellectual Disability-Hypogonadism Syndrome	Ulnar deviation of finger, Abnormal distal phalanx morphology of finger, Brachycephaly, Abnormali...	ORPHA:1387
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flared metaphysis, Decreased fibular diameter, Hypertrophic cardiomyopathy, Intrauterine growth r...	OMIM:616897
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Plagiocephaly, Clinodactyly, Intrauterine growth retardation, Prominent occiput, Ventricular sept...	OMIM:617360
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Short foot, Plagiocephaly, Broad palm, Short palm	OMIM:614563
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Plagiocephaly, Slender long bone, Trigonocephaly, Decreased calvarial ossification, Brachydactyly...	OMIM:618265
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Dispropo...	ORPHA:175
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ...	OMIM:142900
Aarskog-Scott Syndrome	Short 5th finger, Clinodactyly, Radial deviation of finger, Inguinal hernia, Single transverse pa...	OMIM:305400
Pagod Syndrome	Short stature, Meningocele, Encephalocele, Spina bifida	ORPHA:991
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing	OMIM:264470
Williams-Beuren Region Duplication Syndrome	Short stature, Brachycephaly, Hydrocephalus	OMIM:609757
6Q25 Microdeletion Syndrome	Plagiocephaly, Camptodactyly of finger, Short stature, Clinodactyly of the 5th finger, Rocker bot...	ORPHA:251056
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Intrauterine growth retardation, Hip contracture, Brachycephaly, Frontal bossing, ...	OMIM:616801
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Hemiatrophy of upper limb, Frontal bossing, Anterior plagiocephaly, Abnormal femo...	ORPHA:163649
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of finger, Myelomeningocele, R...	ORPHA:2876
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Pectus exc...	OMIM:212780
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal heart morphology, Narrow greater sciatic notch, Brachycephaly, Ulnar deviation of the ha...	OMIM:263210
Monosomy 13Q14	Finger syndactyly, Trigonocephaly, Intrauterine growth retardation, Aplasia/Hypoplasia of the thu...	ORPHA:1587
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Brachyturricephaly, Hallux varus, Sho...	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	Plagiocephaly, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Brachycephaly, Short...	ORPHA:261652
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Finger syndactyly, Intrauterine growth retardation, Ventricular sep...	ORPHA:254346
Joubert Syndrome With Hepatic Defect	Orofacial cleft, Occipital encephalocele, Hydrocephalus	ORPHA:1454
Lujan-Fryns Syndrome	Camptodactyly of finger, Arachnodactyly, Brachycephaly, Brachydactyly, Atrial septal defect	ORPHA:776
Duplication Of The Pituitary Gland	Encephalocele, Cleft palate	ORPHA:314621
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Orofacial cleft, Coloboma, Iris coloboma, Non-midline cleft of the upp...	ORPHA:1297
2Q23.1 Microdeletion Syndrome	Sandal gap, Brachycephaly, Hip dysplasia, Short stature, Clinodactyly of the 5th finger, Growth d...	ORPHA:228402
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Brachycephaly, Tapered finger	ORPHA:352530
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda...	OMIM:613684
Noonan Syndrome With Multiple Lentigines	Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth retardation, Abno...	ORPHA:500
49,Xxxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Down-sloping shoulders, Talipes equinovarus, Ra...	ORPHA:96264
Cerebrooculonasal Syndrome	Proboscis, Frontal bossing, Postnatal growth retardation, Encephalocele, Postaxial polydactyly, B...	OMIM:605627
Sporadic Fetal Brain Disruption Sequence	Plagiocephaly, Prominent occiput	ORPHA:1665
Al Kaissi Syndrome	Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Deep pal...	OMIM:617694
Methylcobalamin Deficiency Type Cble	Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Hydrocephalus, Synda...	ORPHA:2169
Otopalatodigital Syndrome Type 2	Myelomeningocele, Hydrocephalus, Encephalocele, Cleft palate	ORPHA:90652
Martsolf Syndrome 1	Broad femoral neck, Short toe, Slender ulna, Cardiomyopathy, Avascular necrosis of the capital fe...	OMIM:212720
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Umbilic...	OMIM:200990
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl...	ORPHA:958
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Brachyturricephaly, Frontal bossing, Intrauteri...	ORPHA:1225
Adams-Oliver Syndrome 5	Umbilical hernia, Inguinal hernia, Patent foramen ovale, Brachydactyly, Right atrial enlargement,...	OMIM:616028
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Retinal coloboma, Occipital me...	OMIM:616546
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Aplasia/Hypoplas...	ORPHA:2911
Potocki-Shaffer Syndrome	Brachycephaly, Delayed puberty, Parietal foramina	ORPHA:52022
Smith-Magenis Syndrome	Abnormal forearm morphology, Abnormal heart morphology, Brachycephaly, Brachydactyly, Short statu...	OMIM:182290
Intellectual Developmental Disorder, Autosomal Dominant 23	Postaxial polydactyly, Brachycephaly, Broad distal phalanx of finger, Sandal gap	OMIM:615761
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Congenital hip dislocation, Umbilical hernia, Mitral valve prolapse, Cubitus valgus, Hydrocephalu...	OMIM:104350
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Cleft palate, Syndactyly	OMIM:619736
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Vulto-Van Silfhout-De Vries Syndrome	2-3 toe cutaneous syndactyly, Brachycephaly, Frontal bossing, Prominent fingertip pads	OMIM:615828
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Chorioretinal coloboma, Camptodactyly of finger,...	ORPHA:568
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Brachycephaly, Sagittal craniosynostosis, ...	OMIM:123500
Intellectual Developmental Disorder, X-Linked 1	Brachycephaly	OMIM:309530
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly, Cleft palate	ORPHA:261272
Blepharonasofacial Malformation Syndrome	Inguinal hernia, Cleft palate, Finger syndactyly, Non-midline cleft of the upper lip	ORPHA:1252
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Stillbirth, Preaxial hand polydactyly	OMIM:263630
Joubert Syndrome 2	Hydrocephalus, Encephalocele	OMIM:608091
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal calvaria morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of fin...	ORPHA:1323
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of...	OMIM:308050
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol...	ORPHA:3258
Aymé-Gripp Syndrome	Plagiocephaly, Reduced arm span, Postnatal growth retardation, Pericardial effusion, Inguinal her...	ORPHA:1272
Kbg Syndrome	Finger clinodactyly, Cervical ribs, Single transverse palmar crease, Cutaneous syndactyly, Cleft ...	ORPHA:2332
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Small hand, Plagiocephaly, Frontal bossing, Elbow flexion contracture, Intrauterine growth retard...	ORPHA:371364
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalan...	OMIM:218600
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo...	OMIM:277170
Tarp Syndrome	Clinodactyly, Single transverse palmar crease, Neonatal death, Postaxial polydactyly, Talipes equ...	OMIM:311900
Intellectual Developmental Disorder, Autosomal Dominant 48	Plagiocephaly, Umbilical hernia, Intrauterine growth retardation, Ventricular septal defect, Bicu...	OMIM:617751
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Hand polydactyly, Brachycephaly, Short stature, Syndactyly	OMIM:239710
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Median cleft palate, Encephalocele, Bilateral cleft lip, Hy...	ORPHA:2162
Prune1-Related Neurological Syndrome	Bilateral talipes equinovarus, Plagiocephaly, Hypertrophic cardiomyopathy	ORPHA:544469
Larsen-Like Syndrome	Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Bipartite calcaneus, Shor...	OMIM:608545
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Frontal bossing, Occipital meningocele, Pa...	OMIM:610828
Neurooculocardiogenitourinary Syndrome	Coloboma, Abnormality of the palmar creases	OMIM:618652
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Overlapping toe, Overlapping fingers, Patent foramen...	OMIM:618316
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Turricephaly, Brachydactyly, Hip dysp...	ORPHA:710
Hallermann-Streiff Syndrome	Slender long bone, Chorioretinal coloboma, Optic disc coloboma, Frontal bossing, Thin calvarium, ...	OMIM:234100
Robinow-Sorauf Syndrome	Broad thumb, Plagiocephaly, Broad hallux, Duplication of the distal phalanx of the hallux, Hallux...	OMIM:180750
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Trisomy 8Q	Camptodactyly of finger, Myelomeningocele, Long thorax, Deep palmar crease, Orofacial cleft, Brac...	ORPHA:1752
Apert Syndrome	Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Brachyturricephaly, Aplasia/Hypoplasi...	ORPHA:87
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Synostosis of carpal bones, Finger syndactyly, Moderate postnatal growth re...	ORPHA:1005
Acrofacial Dysostosis, Palagonia Type	Small hand, Unilateral cleft lip, Finger syndactyly, Short 4th metacarpal, Spina bifida occulta	ORPHA:1787
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Meningoencephalocele, Occipital encephalocele, Hydrocephalus, Cleft palate	OMIM:236670
Silver-Russell Syndrome 1	Intrauterine growth retardation, Clinodactyly of the 5th finger, Short distal phalanx of the 5th ...	OMIM:180860
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Pericardial lymphangiectasia, Growth delay, Syndactyly	OMIM:616006
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Encephalocele	ORPHA:2356
Hyperparathyroidism, Transient Neonatal	Fractured rib, Metaphyseal spurs, Umbilical hernia, Femoral bowing, Inguinal hernia, Brachycephal...	OMIM:618188
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Finger clinodactyly, Camptodactyly of finger, Elbo...	ORPHA:1692
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Short stature, Brachycephaly	ORPHA:320385
Cebalid Syndrome	Plagiocephaly, Platystencephaly, Turricephaly, Brachycephaly, Dolichocephaly	OMIM:618774
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal pulmonary valve morphology, Pulmonic stenosis, Cranial asymmetry	ORPHA:137634
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Brachyturricephaly, Umbilical hernia, Genu valgum, Inguinal hernia...	OMIM:182212
Postaxial Acrofacial Dysostosis	Finger syndactyly, Camptodactyly of finger, Hypoplasia of the ulna, Hypoplasia of the radius, Non...	ORPHA:246
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Short 5th finger, Small hand, Toe syndactyly, Plagiocephaly, Frontal bossing, Single transverse p...	OMIM:610759
Joubert Syndrome 33	Syndactyly	OMIM:617767
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal heart morphology, Brachycephaly, Hypertrophic cardiomyopathy	ORPHA:70472
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Plagiocephaly, Clinodactyly, Short finger, Abnormal heart morphology, Single tran...	OMIM:615656
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Cleft palate	OMIM:616300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Plagiocephaly, Brachycephaly, Hydrocephalus, Hip dysplasia, Short stature, Short foot	ORPHA:500055
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Shortening of all phalanges of ...	OMIM:114290
Atelosteogenesis, Type I	Encephalocele, Cleft palate	OMIM:108720
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly, Bilateral cleft palate	ORPHA:1997
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Srd5A3-Cdg	Coloboma, Palmoplantar keratoderma	ORPHA:324737
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Short stature, Brachycephaly	OMIM:615031
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac...	ORPHA:1784
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Short thumb, Clinodactyly, Abnormal heart morphology, Intr...	ORPHA:1708
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Intrauterine growth retardation, Brachycephaly	OMIM:615419
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Ulnar deviation of finger, Plagiocephaly, Umbilical hernia, Camptodactyly of finger, Aniridia, In...	ORPHA:1101
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Kleefstra Syndrome 2	Plagiocephaly, Growth delay	OMIM:617768
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morphology, Ventricula...	ORPHA:404440
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Abnorma...	ORPHA:2980
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Talipes equinovarus, Brachycephaly	OMIM:619972
Jacobsen Syndrome	Toe clinodactyly, Iris coloboma, Aortic valve stenosis, Toe syndactyly, Hypoplastic left heart, F...	ORPHA:2308
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Inguinal hernia	OMIM:618603
Neurofibromatosis, Type I	Short stature, Aqueductal stenosis, Spina bifida, Hydrocephalus	OMIM:162200
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cone-shaped epiphysis, Occipital encephalocele, Thoracic hypoplasia, Rhizomelic arm shortening, T...	ORPHA:397715
Joubert Syndrome 39	Occipital encephalocele	OMIM:619562
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Postnatal growth retardation, Single transverse palmar crea...	OMIM:614800
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus,...	ORPHA:95699
Aicardi Syndrome	Postnatal growth retardation, Spina bifida, Cleft palate	OMIM:304050
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Coloboma	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
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ...	OMIM:256520
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Depression, Exaggerated startle response	OMIM:620114
Goldberg-Shprintzen Megacolon Syndrome	Iris coloboma, Finger syndactyly, Cleft palate	ORPHA:66629
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Intrauterine gro...	ORPHA:2008
Intellectual Developmental Disorder, Autosomal Recessive 38	Plagiocephaly, Sandal gap	OMIM:615516
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hypoplastic ilia, Plagiocephaly, Frontal bossing, Postnatal growth retardation, Dysplasia of the ...	ORPHA:536467
Intellectual Developmental Disorder, Autosomal Dominant 74	Brachycephaly, Intrauterine growth retardation	OMIM:620688
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Sandal gap, Brachycephaly, Clinodactyly of the 5th finger, Frontal bossing, Tapere...	OMIM:618430
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Frontal bossing, Myelomeningocele, Abnormal heart morph...	OMIM:311200
Silver-Russell Syndrome 3	Small hand, Postnatal growth retardation, Short stature, Clinodactyly of the 5th finger, Frontal ...	OMIM:616489
Thoracoabdominal Syndrome	Transposition of the great arteries, Hydrocephalus, Ectopia cordis, Omphalocele, Anencephaly, Cle...	OMIM:313850
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect, Brachycephaly, Brachydactyl...	OMIM:619995
Stiff-Person Syndrome	Opisthotonus, Depression, Exaggerated startle response	OMIM:184850
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Gorlin Syndrome	Palmar pits, Frontal bossing, Cardiac fibroma, Arachnodactyly, Brachycephaly, Brachydactyly, Hydr...	ORPHA:377
Femoral-Facial Syndrome	Toe syndactyly, Humeroradial synostosis, Encephalocele, Limited elbow movement, Talipes equinovar...	OMIM:134780
Solitary Median Maxillary Central Incisor	Coloboma, Cyclopia, Holoprosencephaly	OMIM:147250
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Postnatal growth retardation, Ventricular septal def...	ORPHA:3472
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal finger morphology, Coloboma, Abnormal toe morphology	OMIM:163200
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Ulnar deviation of finger, Plagiocephaly, Finger syndactyly, Camptodactyly ...	ORPHA:2215
Noonan Syndrome 13	Plagiocephaly, Clinodactyly, Overlapping toe, Limited elbow extension, Mitral valve prolapse, Cub...	OMIM:619087
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Talipes equinovarus, Hydrocephalus, Frontal bossing, Tapered finger	OMIM:613603
Joubert Syndrome 1	Postaxial foot polydactyly, Plagiocephaly, Clinodactyly, Chorioretinal coloboma, Optic disc colob...	OMIM:213300
Distal Deletion 3P	Umbilical hernia, Atrioventricular canal defect, Intrauterine growth retardation, Inguinal hernia...	ORPHA:1620
Vater/Vacterl Association	Occipital encephalocele, Postnatal growth retardation, Intrauterine growth retardation, Spina bif...	OMIM:192350
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Plagiocephaly, Abnormality of the wrist, Abnormal femur morphology, Inguinal hernia, Abnormal fib...	ORPHA:2063
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Patellar aplasia, Bi...	ORPHA:3103
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing	OMIM:619264
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Frontal bossing, Abnormal heart morphology, Hand polyd...	ORPHA:2754
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma	OMIM:619318
Chromosome 5P13 Duplication Syndrome	Single transverse palmar crease, Turricephaly, Brachycephaly, Long fingers, Large hands, Craniosy...	OMIM:613174
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	2-3 toe syndactyly, Brachycephaly, Long fingers, Tapered finger	OMIM:218000
Menkes Disease	Metaphyseal spurs, Intrauterine growth retardation, Brachycephaly, Metaphyseal widening, Short st...	OMIM:309400
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic...	OMIM:618164
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele, Chorioretinal coloboma	ORPHA:2031
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Umbilical hernia, Bilateral single transverse palm...	ORPHA:1001
Rhombencephalosynapsis	Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complete duplication of t...	ORPHA:59315
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Broad thumb, Toe syndactyly, Plagiocephaly, Single transverse palmar crease, Bicuspid aortic valv...	OMIM:619720
Hamamy Syndrome	Inguinal hernia, Complete atrioventricular canal defect, Down-sloping shoulders, Long toe, Tapere...	OMIM:611174
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	2-3 toe syndactyly, Coloboma, Rhizomelia, 3-4 finger syndactyly	OMIM:615877
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Mitral va...	OMIM:611962
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis...	OMIM:268310
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Short stature, Craniosynostosis, Brachycephaly, Frontal bossing	ORPHA:314575
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Plagiocephaly	ORPHA:459074
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	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	Coloboma, Hydrocephalus	OMIM:615249
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Broad hallux, Anterior plagiocephaly, Atrial septal defect, Left unicoronal synost...	OMIM:614749
Bohring-Opitz Syndrome	Short toe, Trigonocephaly, Overlapping toe, Intrauterine growth retardation, Mesomelic/rhizomelic...	OMIM:605039
Pontocerebellar Hypoplasia, Type 3	Short stature, Brachycephaly	OMIM:608027
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Postnatal growth re...	ORPHA:96334
Hartsfield Syndrome	Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodacty...	OMIM:615465
Fanconi Anemia	Umbilical hernia, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Short stature, Gr...	ORPHA:84
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Chorioretinal coloboma, Iris coloboma, Proximal pl...	ORPHA:139471
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Camptodactyly, Tapered finger	ORPHA:435938
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Plagiocephaly, Postnatal growth retardation, Genu valgum, Cubitus valgus, Metatarsus ...	ORPHA:300570
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Talipes equinovarus, Plagiocephaly	OMIM:617481
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Plagiocephaly, 3-4 toe syndactyly, Genu valgum, Sit...	ORPHA:1449
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper...	ORPHA:989
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
X-Linked Intellectual Disability, Sutherland-Haan Type	Short stature, Brachycephaly	ORPHA:93950
Bartsocas-Papas Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Plagiocephaly, Elbow dislocation, Short thumb, Ectrodactyly, Oligodactyly, Fro...	ORPHA:2538
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly, Cleft palate	ORPHA:564
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Intrauterine growth retardation, In...	ORPHA:2990
Lenz-Majewski Hyperostotic Dwarfism	Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract...	OMIM:151050
Antley-Bixler Syndrome	Camptodactyly of finger, Femoral bowing, Turricephaly, Arachnodactyly, Brachycephaly, Elbow ankyl...	ORPHA:83
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Short finger, Elbow flexion contracture, Umbi...	OMIM:608328
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Spina bifida occulta, Plagiocephaly, Muscular ventricular septal defect	OMIM:619227
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Plagiocephaly, Ventricular septal defect, Brachydactyly, Atrial septal defect, Short stature, Cra...	ORPHA:457193
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Hypertrophic cardiomyopathy, Overlapping toe, Overlapping fingers, Atrial septal d...	OMIM:619383
Loeys-Dietz Syndrome 5	Growth delay, Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Arachnodactyly, T...	OMIM:615582
Cri-Du-Chat Syndrome	Inguinal hernia, Single transverse palmar crease, Orofacial cleft, Metatarsus adductus, Short met...	OMIM:123450
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Irritability	OMIM:616881
Joubert Syndrome 21	Occipital encephalocele, Encephalocele	OMIM:615636
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Atrial septal defect, Pericardial effusion, Frontal bossing, Hip dislocation	OMIM:608776
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Intrauterine growth retardation, Short sternum, Brachycephaly, Hydr...	OMIM:257300
Joubert Syndrome 5	Occipital encephalocele, Cleft palate	OMIM:610188
Adnp Syndrome	Iris coloboma, Broad thumb, Plagiocephaly, Sandal gap, Broad hallux, Umbilical hernia, Trigonocep...	ORPHA:404448
Cerebellar Ataxia-Hypogonadism Syndrome	Short stature, Clinodactyly of the 5th finger, Brachycephaly	ORPHA:1173
Marcus-Gunn Syndrome	Coloboma, Cleft palate	ORPHA:91412
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Broad phalanges of the hand, Broad skull, Proportionate short stature, Ven...	OMIM:277600
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Intrauterine growth ret...	ORPHA:193
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Chorioretinal coloboma, Ventricular s...	OMIM:280000
Rubinstein-Taybi Syndrome 1	Broad thumb, Hypoplastic iliac wing, Talipes equinovarus, Dislocated radial head, Syndactyly, Rad...	OMIM:180849
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, 2-4 toe cutaneous syndactyly, Broad long bo...	OMIM:257850
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ulnar deviation of the hand or of fingers of the hand, Arachnodactyly, Talipes equinovarus, Brach...	ORPHA:562528
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Narrow palm, Brachycephaly, Ulnar deviation of the hand, Hip dysplasia, Short stat...	OMIM:619435
Sweeney-Cox Syndrome	Short distal phalanx of finger, Patent foramen ovale, 2-4 finger syndactyly, Short clavicles, 2-5...	OMIM:617746
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,...	ORPHA:1517
Raine Syndrome	Plagiocephaly, Micromelia, Brachyturricephaly, Long hallux, Bowing of the long bones, Brachycepha...	OMIM:259775
Saethre-Chotzen Syndrome	Broad thumb, Plagiocephaly, Finger syndactyly, Bilateral single transverse palmar creases, Brachy...	ORPHA:794
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Gorlin-Chaudhry-Moss Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Umbilical hernia, Brachycephaly, Abnorm...	ORPHA:2095
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Fibrochondrogenesis	Hypoplastic scapulae, Plagiocephaly, Micromelia, Abnormal diaphysis morphology, Camptodactyly of ...	ORPHA:2021
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida	OMIM:619480
Blepharophimosis-Impaired Intellectual Development Syndrome	Short distal phalanx of finger, Plagiocephaly, Talipes equinovarus, Hip dysplasia, Clinodactyly o...	OMIM:619293
Lateral Meningocele Syndrome	Umbilical hernia, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Hydrocephalu...	OMIM:130720
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Broad long bones, Short tubular bones of the hand, Hyp...	OMIM:200610
22Q11.2 Deletion Syndrome	Umbilical hernia, Intrauterine growth retardation, Spina bifida, Hydrocephalus, Short stature, Me...	ORPHA:567
Congenital Disorder Of Glycosylation, Type Iq	Coloboma	OMIM:612379
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Plagiocephaly, Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth reta...	ORPHA:453499
Meckel Syndrome, Type 1	Iris coloboma, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial deviatio...	OMIM:249000
Lenz-Majewski Hyperostotic Dwarfism	Severe short stature, Aplastic clavicle, Finger syndactyly, Cranial hyperostosis, Facial hyperost...	ORPHA:2658
Teebi-Shaltout Syndrome	Aortic valve stenosis, Caudal appendage, Scaphocephaly, Single transverse palmar crease, Turricep...	OMIM:272950
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital hip dislocation, Plagiocephaly, Abnormal heart morphology, Patent foramen ovale, Contr...	ORPHA:457279
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Broad hallux, Inguinal hernia, Postaxial polydactyly, Hydrocephalus, Hip dysplasia...	ORPHA:457284
Frank-Ter Haar Syndrome	Growth delay, Secundum atrial septal defect, Flared metaphysis, Mitral valve prolapse, Ventricula...	OMIM:249420
Duane Retraction Syndrome	Plagiocephaly, Chorioretinal coloboma, Preaxial hand polydactyly, Aniridia, Talipes equinovarus, ...	ORPHA:233
20Q11.2 Microduplication Syndrome	Trigonocephaly, Limited elbow extension, Inguinal hernia, Deep palmar crease, Brachycephaly, Seve...	ORPHA:363659
Down Syndrome	Shallow acetabular fossae, Clinodactyly, Sandal gap, Tetralogy of Fallot, Hypoplastic iliac wing,...	OMIM:190685
Fliedner-Zweier Syndrome	Bicuspid aortic valve, Meningocele, Ventricular septal defect	OMIM:620511
Craniofrontonasal Syndrome	Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndactyly, Broad hallux, Umbilical hernia, ...	OMIM:304110
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Broad distal phalanx of finger, Enlarged interphalangeal joints, Palmar edema, Abnormality of the...	ORPHA:2988
Wieacker-Wolff Syndrome, Female-Restricted	Radial deviation of the hand, Hip contracture, Talipes equinovarus, Brachycephaly, Short stature,...	OMIM:301041
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Dysosteosclerosis	Short diaphyses, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, Progressive bow...	OMIM:224300
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Bi...	ORPHA:1507
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Intrauterine gro...	ORPHA:217346
Smith-Magenis Syndrome	Toe syndactyly, Hand polydactyly, Brachycephaly, Delayed puberty, Brachydactyly, Short stature, C...	ORPHA:819
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Plagiocephaly, Intrauterine growth retardation, Talipes equinovaru...	ORPHA:363528
Multiple Pterygium Syndrome, Escobar Variant	Ulnar deviation of finger, Umbilical hernia, Patellar aplasia, Acetabular dysplasia, Down-sloping...	OMIM:265000
Peters Plus Syndrome	Toe syndactyly, Postnatal growth retardation, Short foot, Iris coloboma, Hypoplastic left heart, ...	ORPHA:709
Familial Multiple Lipomatosis	Bowing of the long bones, Coloboma	ORPHA:199276
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Plagiocephaly, Genu valgum, Delay...	OMIM:620099
Achard Syndrome	Arachnodactyly, Brachycephaly, Broad skull	OMIM:100700
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Intrauterine growth retardation, Camptodactyly of toe, Cardiomegaly, 2-3 finger s...	ORPHA:158687
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Coloboma	ORPHA:2399
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Postnatal growth retardation, Intrauterine growth retardation, Ara...	OMIM:612513
Developmental And Epileptic Encephalopathy 1	Plagiocephaly, Growth delay	OMIM:308350
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Agitation, Exaggerated startle response	OMIM:618056
Frontofacionasal Dysplasia	Cranium bifidum occultum, Orofacial cleft	OMIM:229400
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly	ORPHA:521390
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Ventricular septal defect, Abnormal metacarpal mor...	ORPHA:818
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Cornelia De Lange Syndrome 1	Finger aplasia, Micromelia, Optic disc coloboma, Elbow flexion contracture, Hypoplastic radial he...	OMIM:122470
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Brachycephaly, Dysplastic pulmonary valve	OMIM:300958
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Plagiocephaly, Aqueductal stenosis, Brachycephaly, Hydrocephalus, Lon...	OMIM:619512
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Increased carrying angle, Plagiocephaly, 2-3 toe syndactyly, Clinodactyly...	OMIM:261990
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Plagiocephaly	OMIM:607313
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Congenital hip dislocation, Joint contracture of the hand, Ulnar deviation of the 2nd finger, Mil...	ORPHA:456312
Pili Torti-Onychodysplasia Syndrome	Cutaneous syndactyly, Palmoplantar keratoderma, Cleft palate	ORPHA:2890
Sclerosteosis 1	Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Broad ribs, Sclerot...	OMIM:269500
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
Gomez-Lopez-Hernandez Syndrome	Skull asymmetry, Turricephaly, Brachycephaly, Short stature, Craniosynostosis	OMIM:601853
Metaphyseal Chondrodysplasia, Jansen Type	Severe short stature, Metaphyseal cupping, Hip contracture, Bowing of the long bones, Metaphyseal...	OMIM:156400
7Q31 Microdeletion Syndrome	Plagiocephaly, Clinodactyly of the 2nd finger, Prominent fingertip pads, Postnatal growth retarda...	ORPHA:251061
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Short stature, Brachycephaly, Plagiocephaly	OMIM:618862
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
De Barsy Syndrome	Congenital hip dislocation, Umbilical hernia, Postnatal growth retardation, Intrauterine growth r...	ORPHA:2962
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Abnormal metacarpal morphology, Toe syndactyly, Short hallux, Finger syndactyly	ORPHA:3224
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Hypoplastic right heart, Clinodactyly, Frontal bossing, Patent foramen ovale, Ventri...	OMIM:616894
Townes-Brocks Syndrome 1	Broad thumb, Chorioretinal coloboma, Pseudoepiphyses of second metacarpal, Ventricular septal def...	OMIM:107480
Carpenter Syndrome 2	Broad thumb, Cutaneous finger syndactyly, Talipes equinovarus, Atrial septal defect, Dextrocardia...	OMIM:614976
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Aprosencephaly And Cerebellar Dysgenesis	Talipes equinovarus, Aprosencephaly, Craniosynostosis	OMIM:601374
Kabuki Syndrome	Short 5th finger, Small hand, Short middle phalanx of finger, Orofacial cleft, Coloboma, Hydrocep...	ORPHA:2322
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Pectus carinatum, Finger syndactyly, Clinodactyly, Overlapping toe, ...	ORPHA:464738
Wildervanck Syndrome	Meningocele	ORPHA:3456
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Prominent fingertip pads, Single transverse palmar crease, Clinodactyly of the 5th...	OMIM:619188
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Narrow chest, Clinodactyly, Cleft palate, Brachydactyly, Proximal placement of thumb, Short palm,...	OMIM:217980
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Umbilical hernia, Retinal coloboma, Inguinal hernia, Ventricular septal ...	OMIM:620654
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla...	OMIM:263750
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Inguinal hernia, Single transverse palmar crease, Ventricular septal defec...	ORPHA:96121
Chopra-Amiel-Gordon Syndrome	Short stature, Postnatal growth retardation, Brachycephaly	OMIM:619504
48,Xxxy Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Inguinal hernia, Down-sloping shoulders, Talipe...	ORPHA:96263
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Inguinal hernia, Brachycephaly, A...	ORPHA:96147
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Postnatal growth retardation, Ventricular septal defect, Abnormal metacarpal morpho...	OMIM:268300
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Finger syndactyly, Split hand, Abnormal rib morphology, Non-midline cleft of the ...	ORPHA:1300
Momo Syndrome	Chorioretinal coloboma, Femoral bowing, Short sternum, Brachycephaly, Large hands, Short stature,...	ORPHA:2563
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Au-Kline Syndrome	Plagiocephaly, Overlapping toe, Postaxial polydactyly, Dolichocephaly, Deep palmar crease, Sagitt...	OMIM:616580
X Small Rings	Toe syndactyly, Upper limb undergrowth, Mitral stenosis, Lower limb undergrowth, Ventricular sept...	ORPHA:96201
Rothmund-Thomson Syndrome, Type 3	Severe short stature, Short distal phalanx of finger, Frontal bossing, Talipes equinovarus, Short...	OMIM:615789
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	2-3 toe cutaneous syndactyly, Brachycephaly, Clinodactyly of the 5th finger, Short foot, Growth d...	OMIM:300260
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly, Abnormal heart morphology, Postnatal growth retardation, Intrauterine growth retard...	ORPHA:96182
Intellectual Developmental Disorder, Autosomal Dominant 67	Posterior plagiocephaly	OMIM:619927
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ...	ORPHA:1798
Galloway-Mowat Syndrome 4	Short stature, Plagiocephaly, Tapered finger	OMIM:617730
Orofaciodigital Syndrome Iii	Short sternum, Postaxial foot polydactyly, Pectus excavatum, Postaxial hand polydactyly	OMIM:258850
Desanto-Shinawi Syndrome	Brachycephaly	OMIM:616708
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Arachnodactyly, Toe syndactyly, Finger syndactyly, Short palm	ORPHA:73246
X-Linked Intellectual Disability, Wilson Type	Brachycephaly, Growth delay, Inguinal hernia	ORPHA:85290
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Neurofaciodigitorenal Syndrome	Plagiocephaly, Abnormal distal phalanx morphology of finger, Intrauterine growth retardation, Bra...	ORPHA:2673
Charge Syndrome	Bifid femur, Chorioretinal coloboma, Umbilical hernia, Abnormal tibia morphology, Polydactyly, Aq...	ORPHA:138
Beck-Fahrner Syndrome	Cardiomegaly, Brachycephaly, Ventricular septal defect, Hip dysplasia	OMIM:618798
Knobloch Syndrome 2	Encephalocele	OMIM:618458
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
White-Sutton Syndrome	Broad thumb, Intrauterine growth retardation, Patent foramen ovale, Brachycephaly, Brachydactyly,...	OMIM:616364
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Sandal gap, Camptodactyly of finger, Intrauterine growth retardation, Bilateral...	ORPHA:261349
Bohring-Opitz Syndrome	Coloboma, Pectus excavatum, Metacarpophalangeal joint contracture, Bilateral wrist flexion contra...	ORPHA:97297
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Long hallux, Inguinal hernia, Coloboma, Large hands, Bowing of the legs	OMIM:617107
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Plagiocephaly	ORPHA:77300
Bent Bone Dysplasia Syndrome 2	Thin ribs, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fem...	OMIM:620076
Porphyria Due To Ala Dehydratase Deficiency	Depression, Restlessness, Abnormal fear-induced behavior, Agitation	ORPHA:100924
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Foot polydactyly, Iris coloboma, S...	OMIM:305600
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Asymmetry of the thorax, Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle ...	ORPHA:1112
Osteogenesis Imperfecta	Abnormal tibia morphology, Genu valgum, Mitral valve prolapse, Bowing of the long bones, Diaphyse...	ORPHA:666
Timothy Syndrome	Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Cutaneous syn...	OMIM:601005
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly, Elbow dislocation, Brachydactyly, Postaxial hand polydactyly, Short stature, Clino...	ORPHA:2916
Chime Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep...	ORPHA:3474
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Metaphyseal cupping, Absent pubertal growth spurt, Neonat...	OMIM:250250
Malan Overgrowth Syndrome	Scaphocephaly, Plagiocephaly, Frontal bossing, Slender long bone	ORPHA:420179
Lateral Meningocele Syndrome	Umbilical hernia, Inguinal hernia, Pectus excavatum, Meningocele, Iris coloboma	ORPHA:2789
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Congenital Disorder Of Glycosylation, Type Iit	Small hand, Sandal gap, Brachycephaly, Short stature, Short foot	OMIM:618885
Cutis Laxa, Autosomal Recessive, Type Ib	Spina bifida, Neonatal death	OMIM:614437
Nabais Sa-De Vries Syndrome, Type 1	Clinodactyly of the 5th finger, Brachycephaly	OMIM:618828
Momo Syndrome	Retinal coloboma, Short sternum, Brachycephaly, Large hands, Frontal bossing	OMIM:157980
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B...	ORPHA:783
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Broad hallux, Clinodactyly, Oxycephaly, Tr...	OMIM:614188
Intellectual Developmental Disorder, Autosomal Dominant 1	Sandal gap, Postnatal growth retardation, Brachycephaly, Hip dysplasia, Short stature, Clinodacty...	OMIM:156200
Long Qt Syndrome 8	Syndactyly	OMIM:618447
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Submucous cleft hard palate, Camptodactyly of finger	ORPHA:178303
Adams-Oliver Syndrome 1	Encephalocele, Cleft palate	OMIM:100300
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response, Irritability	OMIM:617864
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Postaxial polydactyly, Brachycephaly, Atrial septal defect, Hip dysplasia, Short stat...	OMIM:300968
Developmental And Epileptic Encephalopathy 110	Small hand, Posterior plagiocephaly	OMIM:620149
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Plagiocephaly	OMIM:618731
Ring Chromosome 12 Syndrome	Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Pectus excavatum, Synda...	ORPHA:1439
Aica-Ribosiduria Due To Atic Deficiency	Brachycephaly, Secundum atrial septal defect, Frontal bossing	OMIM:608688
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Broad thumb, Plagiocephaly, Short thumb, Broad hallux, Turricephaly, Hip dysplasia, Bilateral tal...	OMIM:620224
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Bicuspid pulmonary valve, Umbilical hernia, Inguinal hernia, Absen...	OMIM:610168
Faciodigitogenital Syndrome, Autosomal Recessive	Abnormal rib cage morphology, Inguinal hernia, Down-sloping shoulders, Broad palm, Metatarsus add...	OMIM:227330
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Genu valgum, Ventricular septal defect, Brachycephaly, Growth delay, Sho...	OMIM:617798
Developmental And Epileptic Encephalopathy 65	Plagiocephaly	OMIM:618008
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Specc1L-Related Hypertelorism Syndrome	Short toe, Finger syndactyly, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, B...	ORPHA:1519
Autosomal Dominant Keratitis	Aniridia, Coloboma	ORPHA:2334
Dihydropyrimidinase Deficiency	Talipes equinovarus, Short phalanx of finger, Growth delay, Plagiocephaly	OMIM:222748
Hypomandibular Faciocranial Dysostosis	Optic disc coloboma, Trigonocephaly, Brachycephaly, Atrial septal defect, Craniosynostosis	ORPHA:1790
Trisomy 9P	Clinodactyly of the 5th finger, Brachycephaly, Brachydactyly, Bilateral single transverse palmar ...	ORPHA:236
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Finger syndactyly, Tetralogy of Fallot, Ventr...	ORPHA:2473
Down Syndrome	Secundum atrial septal defect, Sandal gap, Umbilical hernia, Tetralogy of Fallot, Atrioventricula...	ORPHA:870
Alg9-Cdg	Rhizomelia, Flared metaphysis, Abnormal heart morphology, Pericardial effusion, Ventricular septa...	ORPHA:79328
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Occipital meningocele	OMIM:267750
Orofaciodigital Syndrome Type 3	Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Pectus excavatum, Thoracic...	ORPHA:2752
Neurocutaneous Melanocytosis	Meningocele, Chorioretinal coloboma	ORPHA:2481
9P13 Microdeletion Syndrome	Umbilical hernia, Brachycephaly, Short stature, Clinodactyly of the 5th finger, Absent palmar crease	ORPHA:324313
Cranioectodermal Dysplasia 2	Rhizomelia, Plagiocephaly, Clinodactyly, Inguinal hernia, Patent foramen ovale, Polydactyly, Doli...	OMIM:613610
Den Hoed-De Boer-Voisin Syndrome	Small hand, Sandal gap, Intrauterine growth retardation, Ventricular septal defect, 2-3 toe synda...	OMIM:619229
Xq28 (MECP2) duplication	Brachycephaly	DECIPHER:45
Alpha-Mannosidosis, Infantile Form	Cranial hyperostosis, Umbilical hernia, Genu valgum, Cortical thickening of long bone diaphyses, ...	ORPHA:309282
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ...	OMIM:148050
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ...	ORPHA:2886
Peters-Plus Syndrome	Square pelvis bone, Postnatal growth retardation, Limited elbow movement, Ventricular septal defe...	OMIM:261540
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad palm, Pectus excavatum, Syndactyly	OMIM:618505
Coffin-Siris Syndrome 1	Postnatal growth retardation, Aplasia/Hypoplasia of the patella, Ventricular septal defect, Atria...	OMIM:135900
Congenital Disorder Of Glycosylation, Type Iia	Slender long bone, Postnatal growth retardation, Ventricular septal defect, Brachycephaly, Short ...	OMIM:212066
Kleefstra Syndrome 1	Conotruncal defect, Single transverse palmar crease, Talipes equinovarus, Brachycephaly, Brachyda...	OMIM:610253
Hyperphosphatasia-Intellectual Disability Syndrome	Plagiocephaly, Clinodactyly, Brachycephaly, Hip dysplasia, Shortening of all distal phalanges of ...	ORPHA:247262
Alg12-Cdg	Posterior plagiocephaly, Sandal gap, Biventricular hypertrophy, Muscular ventricular septal defec...	ORPHA:79324
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hand clenching, Clubbing of toes, Plagiocephaly, Elbow dislocation, Arachnodactyly, Metaphyseal w...	OMIM:620083
Oculocerebrofacial Syndrome, Kaufman Type	Arachnodactyly, Brachycephaly, Growth delay, Flat occiput	ORPHA:2707
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Single transverse palmar crease, Narrow palm, Long palm, Talipes equinovarus, Brachy...	OMIM:309583
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Abnormal thoracic spine morphology, Postaxial hand po...	ORPHA:46059
Donnai-Barrow Syndrome	Short sternum, Iris coloboma, Omphalocele, Umbilical hernia	OMIM:222448
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Coloboma, Hip dysplasia, Cleft palate	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Branchial anomaly, Postaxial polydactyly, Talipes equinovarus, Coloboma, Hip dysplasia, Cleft palate	ORPHA:352665
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Alobar Holoprosencephaly	Proboscis, Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hip d...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Proboscis, Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hip d...	ORPHA:93926
Lobar Holoprosencephaly	Proboscis, Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hip d...	ORPHA:93924
Semilobar Holoprosencephaly	Proboscis, Abnormal heart morphology, Hydrocephalus, Short stature, Cyclopia, Growth delay, Hip d...	ORPHA:220386
Esophageal Atresia	Coloboma, Cleft palate, Clinodactyly, Omphalocele	ORPHA:1199
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Posterior plagiocephaly, Cone-shaped epiphysis, Plagiocep...	OMIM:619841
Warburg Micro Syndrome 2	Postnatal growth retardation, Overlapping toe, Clinodactyly of the 5th toe, Brachycephaly, Clinod...	OMIM:614225
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Umbilical hernia, Frontal bossing, Abnorm...	ORPHA:97360
Lig4 Syndrome	Clinodactyly of the 5th finger, Brachycephaly, Growth delay, Biparietal narrowing	ORPHA:99812
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, Syndactyly	OMIM:614520
Microphthalmia, Syndromic 5	Coloboma, Cleft palate	OMIM:610125
Intellectual Developmental Disorder, Autosomal Dominant 58	Short stature, Plagiocephaly, Inguinal hernia, Single transverse palmar crease	OMIM:618106
Turnpenny-Fry Syndrome	Small hand, Plagiocephaly, Clinodactyly, Overlapping toe, Intrauterine growth retardation, Mitral...	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	Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Ventricula...	OMIM:263520
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Brachycephaly, Restrictive cardiomyopathy, Hypoplasia of the ulna	OMIM:615398
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:615287
Prader-Willi Syndrome	Small hand, Radial deviation of finger, Clinodactyly, Intrauterine growth retardation, Genu valgu...	OMIM:176270
Fraser Syndrome	Myelomeningocele, Orofacial cleft, Encephalocele, Umbilical hernia	ORPHA:2052
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Brachycephaly	OMIM:620240
Tay-Sachs Disease	Depression, Laryngeal dystonia, Tremor, Dysphagia, Exaggerated startle response, Dystonia, Mania	ORPHA:845
Fontaine Progeroid Syndrome	Short distal phalanx of finger, Coronal craniosynostosis, Umbilical hernia, Abnormal heart morpho...	OMIM:612289
Microphthalmia, Syndromic 6	Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl...	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, Talipes equinovarus, Brachycephaly, Clinodactyly of the 5th finger	OMIM:619859
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Short sternum, Ulnar deviation of the hand, Clinodactyly of the 5th ...	OMIM:620113
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Inguinal hernia, Patent foramen ovale, Proportionate short stature, Ventricular se...	OMIM:613457
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Complete atrioventricular canal defect, F...	OMIM:617925
Osteogenesis Imperfecta, Type Xi	Short stature, Brachycephaly, Protrusio acetabuli, Coxa vara	OMIM:610968
Multiple Mitochondrial Dysfunctions Syndrome 7	Agitation, Irritability, Hyperactivity, Exaggerated startle response, Dystonia, Impulsivity	OMIM:620423
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ulnar deviation of the 2nd finger, Postnatal growth retardation, Ulnar deviation of the 3rd finge...	OMIM:616263
14Q22Q23 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single transverse palmar creas...	ORPHA:264200
Charge Syndrome	Iris coloboma, Bifid femur, Short thumb, Abnormal rib morphology, Umbilical hernia, Retinal colob...	OMIM:214800
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Sirenomelia, Prominent occiput, Anterior plagio...	ORPHA:79500
Marshall-Smith Syndrome	Slender finger, Short distal phalanx of finger, Prominent fingertip pads, Slender long bone, Umbi...	OMIM:602535
Marbach-Schaaf Neurodevelopmental Syndrome	Plagiocephaly, Brachydactyly, Tapered finger	OMIM:619680
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Hip dysplasia, Coloboma, Syndactyly	OMIM:616975
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Short clavicles, Brachy...	OMIM:603116
Cerebrofacioarticular Syndrome	Caudal appendage, Abnormal heart morphology, Talipes equinovarus, Camptodactyly, Short stature, P...	ORPHA:314679
19P13.13 Microdeletion Syndrome	Sandal gap, Clinodactyly, Brachycephaly, Long fingers, Dolichocephaly	ORPHA:357001
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Single transverse palmar crease, Long palm, Narrow palm, Ventricular ...	OMIM:244450
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Broad hallux, Frontal bossing, Elbow flexion contractur...	ORPHA:96149
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Brachycephaly, Postnatal growth retardation	OMIM:614222
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Overlapping toe, Fibular bowing, Ventricular septal defect, Talipes equinovarus, B...	OMIM:618268
Renpenning Syndrome 1	Joint contracture of the hand, Synostosis of the proximal phalanx of the thumb with the 1st metac...	OMIM:309500
Fraser Syndrome 3	Hydrocephalus, Cutaneous syndactyly, Short toe	OMIM:617667
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Postnatal growth retardation, Overlapping toe, Inguinal hernia, Talipes equinovarus, Brachycephal...	OMIM:213980
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Plagiocephaly, Umbilical hernia	OMIM:616579
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Short foot, Growth delay, Plagiocephaly	OMIM:615471
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Camptodactyly, Short metacarpal, Cleft palate, Absent palmar crease	OMIM:614230
Incontinentia Pigmenti	Deviation of finger, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Abnormal hand ...	ORPHA:464
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Finger clinodactyly, Brachycephaly, Brachydactyly, Camptodactyly, Rocker bottom foot, Growth dela...	OMIM:601353
White-Sutton Syndrome	Abnormal heart morphology, Inguinal hernia, Brachycephaly, Short stature, Iris coloboma	ORPHA:468678
Scarf Syndrome	Pectus carinatum, Umbilical hernia, Inguinal hernia, Barrel-shaped chest, Short sternum	OMIM:312830
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Brachycephaly, Brachydactyly, Short stature, Clinodact...	ORPHA:1974
Carey-Fineman-Ziter Syndrome 1	Plagiocephaly, Pectoralis hypoplasia, Talipes equinovarus, Abnormal cardiac septum morphology, Gr...	OMIM:254940
Orofaciodigital Syndrome Xiv	Holoprosencephaly, Occipital encephalocele, Cleft palate	OMIM:615948
Arboleda-Tham Syndrome	Plagiocephaly, Secundum atrial septal defect, Sandal gap, Enlarged proximal interphalangeal joint...	OMIM:616268
Chromosome 1P36 Deletion Syndrome, Distal	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Short foot, Short 5th fin...	OMIM:607872
Autosomal Dominant Robinow Syndrome	Pectus carinatum, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Umbi...	ORPHA:3107
Combined Oxidative Phosphorylation Deficiency 25	Pectus carinatum, Syndactyly	OMIM:616430
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Submucous cleft soft palate, Cleft hard palate, Clinodactyly of the...	ORPHA:69085
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Umbilical hernia, Abnormal heart morphology...	ORPHA:798
Linear Nevus Sebaceus Syndrome	Plagiocephaly, Growth delay, Frontal bossing, Prominent occiput, Biparietal narrowing, Iris coloboma	ORPHA:2612
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Bilateral cleft pa...	ORPHA:3253
Aica-Ribosiduria	Brachycephaly	ORPHA:250977
Kleefstra Syndrome	Tetralogy of Fallot, Ventricular septal defect, Talipes equinovarus, Brachycephaly, Bicuspid aort...	ORPHA:261494
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Frontal bossing, Decreased fibular diameter, Postnatal growth retardation, Dysplasia ...	OMIM:619127
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Osteogenesis Imperfecta, Type Xx	Brachycephaly, Intrauterine growth retardation, Plagiocephaly, Disproportionate short-limb short ...	OMIM:618644
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Plagiocephaly, Secundum atrial septal defect, Tibial torsion, Postnatal growth re...	OMIM:613355
Marshall Syndrome	Genu valgum, Thickened calvaria, Brachycephaly, Short stature, Frontal bossing	ORPHA:560
X-Linked Intellectual Disability, Armfield Type	Small hand, Limited elbow extension, Inguinal hernia, Brachycephaly, Abnormal cardiac septum morp...	ORPHA:85276
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Faciocardiorenal Syndrome	Endocardial fibroelastosis, Tricuspid valve prolapse, Plagiocephaly	ORPHA:1973
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact...	ORPHA:373
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Growth delay, Camptodactyly of finger, Frontal bossing, Congenital malformation...	ORPHA:3455
Humeroradial Synostosis	Brachycephaly, Humeroradial synostosis	OMIM:236400
Microphthalmia, Syndromic 3	Missing ribs, Coloboma, Supernumerary ribs, Rib fusion	OMIM:206900
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, V...	OMIM:216340
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly	OMIM:616083
Warburg Micro Syndrome 4	Short stature, Severe postnatal growth retardation, Brachycephaly	OMIM:615663
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Iris coloboma, Chorioretinal coloboma, Genu valgum, Single transverse palmar crease, Talipes equi...	OMIM:619475
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Exaggerated startle response	OMIM:617301
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos...	OMIM:209900
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Postnatal growth retardation, Talipes equinovarus, Cutaneous syndac...	OMIM:620029
Anterior Segment Dysgenesis 2	Aniridia, Coloboma	OMIM:610256
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Patellar hypoplasia, Patellar aplasia, Single transverse palmar crease, Talipes eq...	ORPHA:495818
X-Linked Intellectual Disability Due To Gria3 Mutations	Short stature, Brachycephaly	ORPHA:364028
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Bicuspid aortic valve, Atrial septal defect, Prominent fingertip pa...	OMIM:612474
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Secundum atrial septal defect, Clinodactyly, Slender long bone, Intrauterine gr...	OMIM:264090
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Brachycephaly, Hallux valgus, Delayed puberty...	ORPHA:2072
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Short thumb, Brachycephaly, Short stature, Clinodactyly of the 5th finger, Frontal bossing, Taper...	OMIM:616728
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Broad first met...	OMIM:619534
Bloom Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Dolichocephaly, Hand polydactyly, ...	OMIM:210900
Genitourinary And/Or Brain Malformation Syndrome	Acrania, Holoprosencephaly, Omphalocele, Syndactyly	OMIM:618820
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas...	OMIM:610442
Ayme-Gripp Syndrome	Craniofacial asymmetry, Radioulnar synostosis, Brachycephaly, Brachydactyly, Camptodactyly, Short...	OMIM:601088
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Grange Syndrome	Coronary artery stenosis, Finger clinodactyly, Bicuspid aortic valve, Brachydactyly, Syndactyly	OMIM:602531
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Brachycephaly, Plagiocephaly, Frontal bossing	OMIM:617296
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Brachycephaly, Double outlet...	OMIM:618223
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly, Hip contracture, Hydrocephalus, Narrow iliac wing, Short stature	ORPHA:3042
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Intrauterine growth retardation, Dolichocephaly, Frontal bossing, Increased femora...	OMIM:619005
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353277
Intellectual Developmental Disorder, Autosomal Dominant 29	Broad hallux, Sandal gap, Cutaneous finger syndactyly, Brachycephaly, Hip dysplasia, Frontal bossing	OMIM:616078
Fucosidosis	Cardiomegaly, Brachycephaly	ORPHA:349
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Cleft palate, Syndactyly	OMIM:129400
Helsmoortel-Van Der Aa Syndrome	Small hand, Posterior plagiocephaly, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad h...	OMIM:615873
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Slender long bone, Upper limb undergrowth, Abnormal heart morphology,...	ORPHA:369837
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Plagiocephaly, Parietal foramina, Brachycephaly, Tar...	ORPHA:85199
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, Frontal bossing, Calvarial skull defect, 2-3 toe syndactyly, Card...	OMIM:181270
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Posterior plagiocephaly, Sandal gap, Umbilical hernia, Scaphocephaly, Ventricul...	OMIM:620330
Lig4 Syndrome	Clinodactyly of the 5th finger, Brachycephaly	OMIM:606593
Dubowitz Syndrome	Inguinal hernia, Single transverse palmar crease, Submucous cleft hard palate, Clinodactyly of th...	OMIM:223370
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the palmar creases, Brachycephaly, Long fingers, Calcaneovalgus deformity, Tapered...	ORPHA:521445
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Bilateral single transverse palmar creases, Ventri...	ORPHA:199
Acrofrontofacionasal Dysostosis 1	Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Brachycephaly, Short stature, ...	OMIM:201180
Eec Syndrome	Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Orofacial cleft...	ORPHA:1896
Adenylosuccinase Deficiency	Brachycephaly, Growth delay	OMIM:103050
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Irritability	OMIM:615574
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short stature, Postnatal growth retardation, Plagiocephaly, Retinal coloboma	OMIM:300749
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista...	OMIM:269150
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Asymmetry of the thorax, Pectus excavatum, Finger syndactyly, Genu varum	ORPHA:1969
Bosma Arhinia Microphthalmia Syndrome	Coloboma, Inguinal hernia, Cleft palate	OMIM:603457
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, Short greater sciatic notch, ...	OMIM:312870
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Ebstein anomaly of the tricuspid valve, Synostosis involving the 1st metacarpal, A...	ORPHA:466791
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Palmoplantar keratoderma, Finger syndactyly, Submucous cleft hard palate, Submucous cleft soft pa...	ORPHA:1071
Marfan Syndrome	Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Inguinal hernia, Mitral valve p...	ORPHA:558
Aicardi Syndrome	Small hand, Plagiocephaly, Optic disc coloboma, Chorioretinal coloboma, Hiatus hernia, Delayed pu...	ORPHA:50
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Brachycephaly, Flat occiput	OMIM:618797
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Umbilical hernia, Mitral valve prolapse, Arachnodactyly, Talipes equinovarus, Hiatus hernia, Brac...	OMIM:601776
Degcags Syndrome	Toe syndactyly, Plagiocephaly, Short thumb, Preaxial hand polydactyly, Intrauterine growth retard...	OMIM:619488
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Growth delay, Frontal bossing	OMIM:617193
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Tetralogy of Fallot, Patent foramen ovale, Radioulnar s...	OMIM:619325
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response	ORPHA:521426
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Plagiocephaly, Craniosynostosis, Unilatera...	ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Plagiocephaly, Skull asymmetry, Cone-shaped epiphyses of the phalanges of the...	OMIM:150230
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Clinodactyly, Trigonocephaly, Overlapping toe, Brachycephaly, Brachydactyly, Camptoda...	OMIM:309590
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Plagiocephaly, Growth delay, Fractures of the long bones	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	Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absent palmar crease	ORPHA:284160
Angelman Syndrome	Brachycephaly, Flat occiput	OMIM:105830
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Finger syndactyly, Orofacial cleft, Short lower limbs, Abnormality of the upper limb	ORPHA:1556
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Broad thumb, Broad hallux, Avascular necrosis of the capital femo...	ORPHA:353281
Arthrogryposis And Ectodermal Dysplasia	Camptodactyly, Brachycephaly, Joint contracture of the hand, Short stature	OMIM:601701
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Plagiocephaly, Hypoplasia of proximal radius, Abnormal heart morphology, Patent foram...	ORPHA:444077
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short distal phalanx of finger, Optic disc coloboma, Intrauterine growth retardation, Cubitus val...	OMIM:617157
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Dysphagia, Exaggerated startle response	OMIM:617527
Craniofacial Microsomia 1	Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro...	OMIM:164210
Microphthalmia, Syndromic 1	Joint contracture of the hand, Narrow chest, Prominent fingertip pads, Clinodactyly, Radial devia...	OMIM:309800
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability	OMIM:219090
Adult Syndrome	Toe syndactyly, Finger syndactyly, Split foot	ORPHA:978
Hallermann-Streiff Syndrome	Small hand, Proportionate short stature, Brachycephaly, Clinodactyly of the 5th finger, Short foo...	ORPHA:2108
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho...	ORPHA:2363
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Parachute mitral valve, Tetralogy of Fallot, Atrioventricular canal defec...	OMIM:265380
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma	OMIM:618183
Branchioskeletogenital Syndrome	Umbilical hernia, Upper limb peromelia, Thickened calvaria, Brachycephaly, Amelia involving the l...	ORPHA:1299
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Proximal radio-ulnar synostosis, Large hands	ORPHA:2062
1P36 Deletion Syndrome	Dilated cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Tetralogy of Fa...	ORPHA:1606
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Brachycephaly, Plagiocephaly, Tapered finger	OMIM:301072
Neurocardiofaciodigital Syndrome	Tetralogy of Fallot, Polydactyly, Atrial septal defect, Short stature, Double inlet left ventricl...	OMIM:619869
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
X-Linked Intellectual Disability, Snyder Type	Arachnodactyly, Long toe, Slender toe, Brachycephaly, Camptodactyly, Short stature	ORPHA:3063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Exaggerated startle response, Irritability	OMIM:618367
Gapo Syndrome	Frontal bossing, Plagiocephaly, Growth delay, Umbilical hernia	OMIM:230740
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor...	ORPHA:2907
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Slender finger, Small hand, Congenital hip dislocation, Cardiomyopathy, Overlapping toe, Postaxia...	ORPHA:480880
Viss Syndrome	Genu valgum, Mitral valve prolapse, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:619472
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Brachycephaly	OMIM:619244
Arima Syndrome	Postaxial foot polydactyly, Occipital meningocele, Chorioretinal coloboma, Postaxial hand polydac...	OMIM:243910
Monosomy 9P	Trigonocephaly, Abnormality of the tarsal bones, Calvarial skull defect, Bilateral single transve...	ORPHA:261112
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short hume...	ORPHA:3404
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele, Flexion contracture of finger, Palmoplantar keratoderma	ORPHA:1010
Cerebrofaciothoracic Dysplasia	Short stature, Brachycephaly	ORPHA:1394
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Internally rotated shoulders, Hip contracture, Ventricular septal defect, Hyperextensibility of t...	OMIM:619503
Monosomy 22	Finger syndactyly, Prominent occiput, Single transverse palmar crease, Clinodactyly of the 5th fi...	ORPHA:96123
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Mild postnatal growth retardation, Pericardial effusi...	ORPHA:2136
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly, Ebstein anomaly of the tricuspid valve	OMIM:608980
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly	OMIM:236700
Turner Syndrome Due To Structural X Chromosome Anomalies	Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu valgum, Hyperm...	ORPHA:99413
Mosaic Monosomy X	Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu valgum, Hyperm...	ORPHA:99228
Monosomy X	Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu valgum, Hyperm...	ORPHA:99226
Turner Syndrome	Enlargement of the distal femoral epiphysis, Short toe, Short 5th metacarpal, Genu valgum, Hyperm...	ORPHA:881
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Prominent fingertip pads, Brachycephaly, Long fingers, Short stature, Growth delay, Tapered finger	OMIM:619950
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly, Inguinal hernia	OMIM:618548
Holoprosencephaly 9	Alobar holoprosencephaly, Bilateral cleft palate, Bilateral cleft lip, Hydrocephalus, Postaxial h...	OMIM:610829
Congenital Fibrosis Of Extraocular Muscles	Finger aplasia, Plagiocephaly	ORPHA:45358
Congenital Disorder Of Deglycosylation 1	Small hand, Single transverse palmar crease, Intrinsic hand muscle atrophy, Brachycephaly, Short ...	OMIM:615273
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, 11 pairs of ribs, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the...	OMIM:620025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Coloboma, Hydrocephalus	OMIM:253280
Congenital Myopathy 13	Bilateral talipes equinovarus, Brachycephaly, Short stature	OMIM:255995
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Small hand, Plagiocephaly, Secundum atrial septal defect, Finger clinodactyly, Sagittal craniosyn...	OMIM:620455
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Proteus Syndrome	Macrodactyly, Finger syndactyly, Chorioretinal coloboma, Cranial hyperostosis, Abnormality of the...	ORPHA:744
Liver Disease, Severe Congenital	Plagiocephaly, Umbilical hernia, Dilatation of the ventricular cavity, Intrauterine growth retard...	OMIM:619991
6Q Terminal Deletion Syndrome	Dolichocephaly, Plagiocephaly, Hallux valgus, Clinodactyly	ORPHA:75857
Faundes-Banka Syndrome	Plagiocephaly, Intrauterine growth retardation, Delayed puberty, Frontal bossing, Flexion contrac...	OMIM:619376
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Joint contracture of the hand, Carpal synostosis, Femoral bowing, Humeroradial synostosis, Ulnar ...	OMIM:201750
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Cardiomyopathy, Abnormal heart morph...	ORPHA:110
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Long hallux, Genu valgum, Arachnodactyly, Bicuspid aortic valve, Iris colo...	ORPHA:261537
Fraser Syndrome 2	Cutaneous syndactyly, Short thorax	OMIM:617666
Aicardi-Goutières Syndrome	Short stature, Cardiomegaly, Plagiocephaly, Hypertrophic cardiomyopathy	ORPHA:51
Mowat-Wilson Syndrome	Aortic valve stenosis, Genu valgum, Bicuspid aortic valve, Iris coloboma, Syndactyly, Abnormal he...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Long hallux, Genu valgum, Ventricular septal defect, Arachnodactyly, Bicus...	ORPHA:261552
Proximal Renal Tubular Acidosis	Coloboma	ORPHA:47159
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Brachycephaly, Cutaneous finger syndactyly, Brachydactyly	OMIM:211380
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Bicoronal synostosis, Delayed puberty, Anterior plagiocephaly	OMIM:619718
Osteopetrosis With Renal Tubular Acidosis	Short stature, Brachycephaly, Plagiocephaly, Thickened calvaria	ORPHA:2785
Common Variable Immunodeficiency	Brachycephaly	ORPHA:1572
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Dystonia, Dysphagia, Exaggerated startle response, Stereotypical hand wringing	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response	OMIM:619522
Primrose Syndrome	Short distal phalanx of finger, Genu valgum, Hip contracture, Brachycephaly, Delayed puberty, Nar...	OMIM:259050
Aspartylglucosaminuria	Short stature, Brachycephaly, Thickened calvaria	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

X-ray

Gross Morphology Embryo E9.5

Gross Morphology Embryo E14.5-E15.5

MicroCT E9.5

Human diseases caused by Grhl2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data