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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

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal placenta morphology	Grhl2^em1(IMPC)Mbp	HET	E15.5	0.00
syndactyly	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal limb morphology	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal craniofacial morphology	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal blood vessel morphology	Grhl2^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal heart morphology	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal neural tube closure	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal hindbrain development	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
increased freezing behavior	Grhl2^em1(IMPC)Mbp	HET	Early adult	8.81×10^-05
abnormal forebrain development	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
exencephaly	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal head shape	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal optic vesicle formation	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal midbrain development	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
embryonic growth retardation	Grhl2^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal neural tube morphology	Grhl2^em1(IMPC)Mbp	HOM	E9.5	0.00
increased startle reflex	Grhl2^em1(IMPC)Mbp	HET	Early adult	8.56×10^-06
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
preweaning lethality, complete penetrance	Grhl2^em1(IMPC)Mbp	HOM	Early adult	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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MicroCT E9.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

9 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 (762 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	Spina bifida, Spinal dysraphism	ORPHA:3176
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Fryns Microphthalmia Syndrome	Neural tube defect, Facial cleft	OMIM:600776
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Parietal Foramina 3	Encephalocele	OMIM:609566
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Dk Phocomelia Syndrome	Encephalocele	OMIM:223340
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Short femur, Facial cleft, Anterior encephalocele, Coloboma, Foot oligodactyly, Holo...	OMIM:601357
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad...	OMIM:120400
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Craniorachischisis	Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism...	ORPHA:63260
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Scalp Defects-Postaxial Polydactyly Syndrome	Encephalocele	ORPHA:1003
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus	OMIM:615938
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Anophthalmia Plus Syndrome	Facial cleft, Spina bifida	ORPHA:1104
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele	OMIM:213010
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Facial Clefting, Oblique, 1	Coloboma, Deep palmar crease, Tessier number 4 facial cleft	OMIM:600251
Acropectoral Syndrome	Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly	ORPHA:85203
Cocaine Embryofetopathy	Encephalocele	ORPHA:1911
Parietal Foramina 2	Encephalocele	OMIM:609597
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Inguinal hernia, Pectus excavatum, Small hand, Facial cleft, Sh...	ORPHA:1786
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal ...	ORPHA:294975
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Greig Cephalopolysyndactyly Syndrome	Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux phalanx, Broad hallux, 1-3 toe s...	OMIM:175700
Supernumerary Nostril	Facial cleft	ORPHA:141096
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Meckel Syndrome, Type 11	Occipital encephalocele	OMIM:615397
Unilateral Ocular Duplication	Encephalocele, Midline facial cleft	ORPHA:3374
Constricting Bands, Congenital	Encephalocele, Syndactyly, Omphalocele, Facial cleft, Abnormal rib cage morphology, Hand polydact...	OMIM:217100
Joubert Syndrome 15	Coloboma, Preaxial polydactyly, Exencephaly	OMIM:614464
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Meckel Syndrome, Type 9	Occipital encephalocele	OMIM:614209
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Greig Cephalopolysyndactyly Syndrome	Frontal bossing, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preax...	ORPHA:380
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Isolated Dandy-Walker Malformation	Encephalocele	ORPHA:217
Ossification Of The Posterior Longitudinal Ligament Of Spine	Spinal cord compression, Myelopathy	OMIM:602475
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Facial cleft, Ethmoidal encephalocele	OMIM:607597
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele	OMIM:200130
Acrofacial Dysostosis, Weyers Type	Postaxial hand polydactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Overlapping...	ORPHA:952
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum, Supraumbilical raphe	OMIM:140850
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, 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
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Microphthalmia, Isolated 4	Coloboma, Postaxial polydactyly	OMIM:613094
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Abnormality of the humerus, Facial cleft, Adducted thumb	ORPHA:1794
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Tr...	ORPHA:957
Schisis Association	Encephalocele, Anencephaly, Spina bifida	ORPHA:63862
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Hypertelorism, Microtia, Facial Clefting Syndrome	Small thenar eminence, Facial cleft, Short 5th finger, 2-3 toe syndactyly	OMIM:239800
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Intrauterine growth retardation	ORPHA:293
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia	OMIM:207950
Frontofacionasal Dysplasia	Encephalocele, Short stature, Facial cleft	ORPHA:1791
Parietal Foramina 1	Encephalocele	OMIM:168500
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele	OMIM:614416
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Biemond Syndrome Type 2	Coloboma, Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Hydrocephalus, Brachycephaly, Double outlet right ventricl...	OMIM:220210
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Chorioretinal...	ORPHA:3265
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Joubert Syndrome 16	Encephalocele, Coloboma, Polydactyly	OMIM:614465
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synostosis, Chorioreti...	ORPHA:921
Mosaic Trisomy 9	Ventricular septal defect, Dextrocardia, Spina bifida, Abnormal heart valve morphology, Cryptorch...	ORPHA:99776
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:324416
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Anterior basal encephalocele, Pectoral muscle hypoplasia/aplasia, Col...	OMIM:136760
Subependymal Nodular Heterotopia	Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele	ORPHA:101030
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, A...	ORPHA:2141
Meckel Syndrome 13	Occipital encephalocele	OMIM:617562
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Gómez-López-Hernández Syndrome	Turricephaly, Short stature, Hydrocephalus, Brachycephaly, Midface retrusion	ORPHA:1532
Frontonasal Dysplasia 3	Facial cleft	OMIM:613456
Carpenter Syndrome	Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ...	ORPHA:65759
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Craniotelencephalic Dysplasia	Frontal encephalocele	OMIM:218670
Aminopterin Syndrome Sine Aminopterin	Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Inguinal...	OMIM:600325
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Sho...	ORPHA:1908
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Leber Congenital Amaurosis	Encephalocele	ORPHA:65
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Pectus excavatum, Camptodactyly of finger	ORPHA:376
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Ring Chromosome 21 Syndrome	Syndactyly, Short stature, Narrow palm, Small hand, Abnormal heart morphology, Holoprosencephaly,...	ORPHA:1445
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h...	ORPHA:93258
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Prominent protruding coccyx...	ORPHA:2839
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele	OMIM:613885
Hartsfield Syndrome	Encephalocele, Lobar holoprosencephaly	ORPHA:2117
Cerebrooculonasal Syndrome	Postaxial hand polydactyly, Facial cleft	ORPHA:66625
Microphthalmia, Isolated, With Coloboma 4	Coloboma	OMIM:251505
Abruzzo-Erickson Syndrome	Coloboma, Radioulnar synostosis	OMIM:302905
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Short stature, Spina bifida	ORPHA:1327
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Abnormal thorax morphology, Facial cleft, Iris coloboma,...	ORPHA:1236
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyl...	ORPHA:166024
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behav...	ORPHA:3077
Sirenomelia	Spina bifida, Sirenomelia	ORPHA:3169
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Facial cleft, Foot polydactyly, Chorioretinal coloboma, Short palm, Iris coloboma	ORPHA:268249
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Midline facial cleft, Preaxia...	OMIM:603671
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Dextrocardia, Spina bifida, Myelomeningocele, ...	ORPHA:2437
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Brachycephaly, Plagiocephaly, Dol...	ORPHA:272
Microphthalmia, Isolated, With Coloboma 6	Coloboma	OMIM:613703
Joubert Syndrome 22	Postaxial foot polydactyly, Coloboma, Postaxial hand polydactyly, 2-3 toe syndactyly	OMIM:615665
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta, Short stature, Brachycephaly	ORPHA:1514
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Joubert Syndrome 9	Encephalocele	OMIM:612285
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Single...	OMIM:303600
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Tapered finger, Pectus excavatum, Long fingers, Short toe, 2-3 toe s...	OMIM:618659
Pseudoprogeria Syndrome	Cranium bifidum occultum	ORPHA:2985
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, M...	ORPHA:1263
Summitt Syndrome	Syndactyly, Oxycephaly, Craniosynostosis	OMIM:272350
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Lissencephaly 8	Occipital encephalocele	OMIM:617255
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma	OMIM:618295
Joubert Syndrome 23	Coloboma, Polydactyly	OMIM:616490
Pentasomy X	Short stature, Camptodactyly of finger, Small hand, Plagiocephaly, Short foot, Radioulnar synosto...	ORPHA:11
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Abnormality of the hand, Anencepha...	ORPHA:1590
Oculoauriculofrontonasal Syndrome	Encephalocele	ORPHA:398156
Bartsocas-Papas Syndrome 1	Omphalocele, Syndactyly, Short metacarpal, Hypoplastic scapulae, Inguinal hernia, Absent thumb, A...	OMIM:263650
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Cloverleaf skull, Broad hallux, Shortening of all middle phalanges...	OMIM:101600
White Forelock With Malformations	Finger syndactyly, Clinodactyly of the 5th finger, Dolichocephaly, Atrial septal defect, Spina bi...	ORPHA:2475
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Brachycephaly, Craniosynostosis, Midface retrusion	OMIM:612247
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly	OMIM:603194
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Ventricular septal defect, Polydactyly	OMIM:602501
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Plagiocephaly...	OMIM:618577
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly	OMIM:611561
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Brachycephaly, Atrial septal defect, Clinodact...	OMIM:201000
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly	OMIM:611134
Oculocerebrocutaneous Syndrome	Orbital encephalocele	OMIM:164180
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Short thorax, Osteolysis involving bon...	ORPHA:88630
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Preaxial hand polydactyly, ...	ORPHA:2211
15Q24 Microdeletion Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Myelomeningocele...	ORPHA:94065
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Fountain Syndrome	Spina bifida occulta, Short stature, Spina bifida	ORPHA:3219
Craniofacial Dyssynostosis With Short Stature	Frontal bossing, Ventricular septal defect, Short stature, Hydrocephalus, Brachycephaly, Abnormal...	OMIM:218350
Triploidy	Omphalocele, Finger syndactyly, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, H...	ORPHA:3376
Cerebrocostomandibular Syndrome	Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ...	ORPHA:1393
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Enlarged Parietal Foramina	Occipital encephalocele, Myelomeningocele	ORPHA:60015
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
3C Syndrome	Abnormal tricuspid valve morphology, Chorioretinal coloboma, Atrial septal defect, Atrioventricul...	ORPHA:7
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
3Mc Syndrome 3	Radioulnar synostosis, Clinodactyly, Preaxial polydactyly, Facial cleft	OMIM:248340
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger	OMIM:618725
Holoprosencephaly-Craniosynostosis Syndrome	Brachydactyly, Short stature, Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Holopro...	ORPHA:2163
Joubert Syndrome 7	Encephalocele	OMIM:611560
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Pallister-Hall-Like Syndrome	Occipital encephalocele, Hydrocephalus	OMIM:241800
Joubert Syndrome 18	Occipital encephalocele	OMIM:614815
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Iniencephaly	Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys...	ORPHA:63259
Hypomelanosis Of Ito	Syndactyly, Hand polydactyly, Radial deviation of finger, Clinodactyly, Iris coloboma	OMIM:300337
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele	ORPHA:280195
Monosomy 5P	Finger syndactyly, Inguinal hernia, Short stature, Small hand, Intrauterine growth retardation	ORPHA:281
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, Short p...	ORPHA:3210
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Frontal encephalocele	ORPHA:521308
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Muenke Syndrome	Tarsal synostosis, Hydrocephalus, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot...	ORPHA:53271
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Atrial septal defect, Inguinal hernia, Short stature, Sagittal craniosynostosis, Hydrocephalus, S...	ORPHA:459061
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Frontal bossing, Prominent fingertip pads, Bicuspid aortic valve, Arachnodactyly, Postaxial polyd...	OMIM:619721
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Inguinal hernia, Pectus excavatum, Short thorax, Genu varum, Hip dislocation, Deep pa...	OMIM:619451
Diaphanospondylodysostosis	Missing ribs, Myelomeningocele, Short thorax, Narrow pelvis bone, Enlarged thorax	ORPHA:66637
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia...	OMIM:617895
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, Dolichocephaly	OMIM:615433
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Inguinal hernia, Single transverse palmar crease, Pectus excavatum, Coloboma, Broad thumb, Clinod...	ORPHA:329224
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Pai Syndrome	Encephalocele	ORPHA:1993
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Facial cleft, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, C...	ORPHA:306542
Meckel Syndrome, Type 3	Occipital encephalocele, Hydrocephalus	OMIM:607361
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p...	OMIM:602849
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Turricephaly, Toe syndactyly, Bowing of the long bones, Craniosynostosis, Hydrocephalus, Brachyce...	ORPHA:171839
Frontonasal Dysplasia 2	Encephalocele, Intrauterine growth retardation, Tessier number 13 facial cleft	OMIM:613451
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Dihydropyrimidine Dehydrogenase Deficiency	Coloboma	OMIM:274270
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Short stature, Single transverse palmar crease, Brachycephaly, Coxa vara, 2-3 toe syn...	OMIM:614701
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto...	ORPHA:1788
Congenital Vertical Talus	Myelomeningocele, Rocker bottom foot, Equinus calcaneus	ORPHA:178382
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Short stature, Brachycephaly, Hand...	ORPHA:2377
Isolated Hemihyperplasia	Myelomeningocele, Asymmetry of the thorax, Inguinal hernia	ORPHA:2128
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Abnormal metacarpal morphology, Brac...	ORPHA:93262
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly	OMIM:614175
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Stillbirth, Clinodacty...	OMIM:236500
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Short stature, Craniosynostosis, Micromelia, Split hand, Brachyc...	ORPHA:2145
Frontorhiny	Encephalocele, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Pectus excavatum, Coloboma, Cutaneous finger ...	OMIM:606851
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ...	ORPHA:1520
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Cranioectodermal Dysplasia	Frontal bossing, Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Prominent occipu...	ORPHA:1515
Craniosynostosis 6	Turricephaly, Craniosynostosis, Parietal foramina, Brachycephaly, Plagiocephaly, Right unilambdoi...	OMIM:616602
Band Heterotopia	Plagiocephaly, Hydrocephalus	OMIM:600348
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydro...	OMIM:207410
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cutaneous finger syndacty...	OMIM:101200
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Inguinal hernia, Short stature, Camptodactyly of finger, Meningocele, Anomalou...	ORPHA:2311
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Myelomeningoce...	OMIM:219000
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe, Midface retrusion	OMIM:612581
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Tethered cord, Short stature, Spinal dysraphism	OMIM:617660
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Verheij Syndrome	Branchial cyst, Hip dislocation, Coloboma, Short 5th finger, Clinodactyly	OMIM:615583
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,...	ORPHA:974
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele	ORPHA:228390
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Facial cleft	ORPHA:861
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Short stature, Abnormality of the hand, Brachycephaly, Abn...	ORPHA:369891
Bresek Syndrome	Hydrocephalus, Postaxial hand polydactyly, Plagiocephaly, Growth delay, Intrauterine growth retar...	ORPHA:85284
Coach Syndrome 1	Encephalocele, Occipital encephalocele	OMIM:216360
Pfeiffer Syndrome Type 2	Broad hallux phalanx, Finger syndactyly, Cloverleaf skull, Toe syndactyly, Short hallux, Hallux v...	ORPHA:93259
Gorlin Syndrome	Frontal bossing, Arachnodactyly, Palmar pits, Hydrocephalus, Brachycephaly, Iris coloboma, Brachy...	ORPHA:377
Thoraco-Abdominal Enteric Duplication	Meningocele, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Frontal bossing, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Triph...	ORPHA:2994
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele	OMIM:614424
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Inguinal hernia, Abnormal mitral valve morphology, Short stature, Brachycephaly,...	ORPHA:1292
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:370959
Mohr Syndrome	Syndactyly, Short stature, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, ...	OMIM:252100
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Crouzon Syndrome	Frontal bossing, Turricephaly, Hydrocephalus, Brachycephaly, Multiple suture craniosynostosis, Ir...	ORPHA:207
Schizophrenia 1	Frontal bossing, Syndactyly, Flat occiput, Short stature, Short proximal phalanx of the 4th toe	OMIM:181510
Alkuraya-Kucinskas Syndrome	Overlapping toe, Pericardial effusion, Hydrocephalus, Cutaneous syndactyly, Plagiocephaly, Talipe...	OMIM:617822
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Coloboma, Short fourth metatarsal, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Unicoronal synostosis, Preaxial hand polydac...	OMIM:601707
Weaver Syndrome	Finger syndactyly, Inguinal hernia, Sandal gap, Camptodactyly of finger, Large hands, Talipes equ...	ORPHA:3447
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly	OMIM:619092
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Inguinal hernia, Arachnodactyly, Brachycephaly, Mitral valve prolapse, Bilateral...	OMIM:615539
Sacral Defect With Anterior Meningocele	Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy...	OMIM:600145
Silver-Russell Syndrome Due To A Point Mutation	Frontal bossing, Syndactyly, Inguinal hernia, Postnatal growth retardation, Short 5th finger, Pol...	ORPHA:397590
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Preax...	OMIM:618142
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Spinal dysraphism	OMIM:612918
Isolated Posterior Meningocele	Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,...	ORPHA:268810
Vacterl With Hydrocephalus	Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida	ORPHA:3412
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Postnatal growth ...	OMIM:272440
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Coloboma, Clinodactyly, Talipes equinovarus	OMIM:616789
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Broad hallux, Overlapping toe, Spina bifida, ...	ORPHA:508498
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Omphalocele	OMIM:601163
Alg3-Cdg	Cardiomyopathy, Abnormal limb bone morphology, Neural tube defect, Metaphyseal chondrodysplasia	ORPHA:79321
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response	ORPHA:3198
Pontocerebellar Hypoplasia, Type 11	Coloboma, Talipes equinovarus	OMIM:617695
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the...	OMIM:609638
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Frontal bossing, Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydac...	ORPHA:60040
Holoprosencephaly 1	Short stature, Alobar holoprosencephaly, Facial cleft, Ethmocephaly, Single ventricle	OMIM:236100
Moebius Syndrome	Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru...	OMIM:157900
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus	ORPHA:2318
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Plagiocephal...	OMIM:605282
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Spina bifi...	OMIM:607323
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus	ORPHA:220497
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Brachycephaly, Shoulder dislocation, Atrial septal defect, P...	OMIM:245600
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Chromosome 17P13.1 Deletion Syndrome	Umbilical hernia, Hydrocephalus, Spina bifida	OMIM:613776
Trisomy 18	Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosencephaly, Intrauterine growth re...	ORPHA:3380
Joubert Syndrome	Encephalocele, Hydrocephalus	ORPHA:475
Otodental Dysplasia	Coloboma	OMIM:166750
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Coloboma, Hydrocephalus	OMIM:613153
Filippi Syndrome	Frontal bossing, Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Short stature,...	ORPHA:3255
Pentalogy Of Cantrell	Encephalocele, Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Abnormal ...	ORPHA:1335
Joubert Syndrome 8	Occipital encephalocele	OMIM:612291
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Flat occiput, Brachycephaly, Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis	OMIM:618736
Opitz-Kaveggia Syndrome	Frontal bossing, Syndactyly, Inguinal hernia, Broad hallux, Single transverse palmar crease, Shor...	OMIM:305450
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Hydrocephalus	OMIM:224400
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele	ORPHA:1827
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Short stature, Tapered finger, S...	OMIM:619148
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Short stature, Coxa valga, Hydrocephalus, Hip dislocation, Brachycephaly	OMIM:109120
Aarskog-Scott Syndrome	Finger syndactyly, Inguinal hernia, Single transverse palmar crease, Camptodactyly of finger, Pec...	ORPHA:915
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Micromelia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial ...	ORPHA:93271
Stevenson-Carey Syndrome	Coloboma, Hip dysplasia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Adams-Oliver Syndrome 6	Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Calvarial skull def...	OMIM:616589
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Trisomy 20P	Umbilical hernia, Spina bifida	ORPHA:261318
Kury-Isidor Syndrome	Frontal bossing, Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal place...	OMIM:619762
Richieri-Costa/Guion-Almeida Syndrome	Short stature, Brachycephaly, Palmoplantar cutis laxa, Spina bifida occulta, Abnormal digit morph...	OMIM:268850
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus	ORPHA:220493
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Short stature, Small hand, Spina bifida occulta, Short 4th metacarpal, Midface...	ORPHA:1787
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Thrombocytopenia-Absent Radius Syndrome	Brachycephaly, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Atri...	OMIM:274000
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93260
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma, Cardiomegaly	OMIM:613576
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Frontal bossing, Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Aplasia/Hy...	ORPHA:2256
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Hydrocephalus	ORPHA:1865
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele	OMIM:224410
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele	OMIM:614195
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Coloboma	OMIM:167730
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Isolated Arrhinia	Facial cleft	ORPHA:1134
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Nail-Patella Syndrome	Short stature, Spina bifida	OMIM:161200
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Mild postnatal growth retardation, Short stature, Long hallux, N...	OMIM:101800
Limb Body Wall Complex	Encephalocele, Thoracoabdominal wall defect, Duplication of hand bones, Broad hallux, Aplasia/hyp...	ORPHA:2369
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Pagod Syndrome	Encephalocele, Meningocele, Short stature, Spina bifida	ORPHA:991
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Short stature, Secundum at...	OMIM:600987
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Inguinal hernia, Single tra...	ORPHA:93932
Contractural Arachnodactyly, Congenital	Frontal bossing, Hip contracture, Bowing of the long bones, Bicuspid aortic valve, Ventricular se...	OMIM:121050
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Pectus excavatum, Hypoplasia of the radius, Rad...	OMIM:212780
Meckel Syndrome, Type 6	Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:612284
Peroxisome Biogenesis Disorder 12A (Zellweger)	Short stature, Hydrocephalus, Scaphocephaly, Cranial asymmetry, Growth delay, Atrial septal defec...	OMIM:614886
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Clinodactyly of the 5th finger...	ORPHA:1587
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Sclerotic scapulae, Abnormal pelvis bone ossificatio...	ORPHA:166119
Osteopathia Striata-Cranial Sclerosis Syndrome	Frontal bossing, Flat occiput, Severe short stature, Brachycephaly, High iliac wing, Aortic valve...	ORPHA:2780
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Short thumb, Myelomeningocele, Abnormal rib morpho...	ORPHA:2876
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ...	OMIM:613684
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad hallux, Small hand, Tibial bowing, Short foot, Coloboma, Broad thumb, Talipes equinovarus, ...	ORPHA:251028
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:264480
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Focal Dermal Hypoplasia	Omphalocele, Finger syndactyly, Inguinal hernia, Toe syndactyly, Ventricular septal defect, Abnor...	ORPHA:2092
Methylcobalamin Deficiency Type Cble	Syndactyly, Postnatal growth retardation, Hydrocephalus, Intrauterine growth retardation, Clinoda...	ORPHA:2169
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hydrocephalus, Mitral valve prolapse, Umbilical hernia, C...	OMIM:104350
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, ...	ORPHA:887
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth	OMIM:263630
Arthrogryposis, Distal, Type 4	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl...	OMIM:609128
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Inguinal hernia, Right atrial enlargement, Pulmonic stenosis, Umbilica...	OMIM:616028
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ...	OMIM:109400
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal calvaria morphology, Bipariet...	ORPHA:1323
Apert Syndrome	Frontal bossing, Aplasia/Hypoplasia of the thumb, Cloverleaf skull, Finger syndactyly, Toe syndac...	ORPHA:87
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Cleidocranial Dysplasia	Frontal bossing, Hypoplastic scapulae, Short stature, Down-sloping shoulders, Tapered finger, Abn...	ORPHA:1452
Joubert Syndrome 2	Encephalocele, Hydrocephalus	OMIM:608091
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Growth delay, Syndactyly, Pericardial lymphangiectasia, Camptodactyly	OMIM:616006
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Omphalocele, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Long f...	OMIM:618316
Pfeiffer Syndrome	Finger syndactyly, Turricephaly, Brachydactyly, Short stature, Symphalangism affecting the phalan...	ORPHA:710
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Baraitser-Winter Syndrome 2	Coloboma	OMIM:614583
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Single transverse palmar cr...	OMIM:305400
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Arachnoid Cyst	Encephalocele, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Short toe, Hydrocephalus, Abnormal heart morphology, Plagiocephaly, Delayed ossif...	OMIM:239300
Acrocallosal Syndrome	Finger syndactyly, Inguinal hernia, Toe syndactyly, Duplication of thumb phalanx, Tapered finger,...	OMIM:200990
Neurooculocardiogenitourinary Syndrome	Coloboma, Abnormality of the palmar creases	OMIM:618652
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metaphyseal widening, Brachycephaly, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion c...	OMIM:259600
Intellectual Developmental Disorder, Autosomal Dominant 66	Arachnodactyly, Secundum atrial septal defect, Brachycephaly, Plagiocephaly, Transposition of the...	OMIM:619910
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Turricephaly, Brachydactyly, Severe short stature, Abnormality of the elbow, H...	ORPHA:1005
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd...	OMIM:217085
Neurofibromatosis, Type I	Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida	OMIM:162200
Joubert Syndrome 33	Syndactyly	OMIM:617767
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Short stature, Brachycephaly, Hand polydactyly, Broad thumb	OMIM:239710
Silver-Russell Syndrome 1	Frontal bossing, Syndactyly, Short distal phalanx of the 5th finger, Clinodactyly of the 5th fing...	OMIM:180860
Hallermann-Streiff Syndrome	Proportionate short stature, Spina bifida	OMIM:234100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus	OMIM:613150
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand...	OMIM:146510
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Femoral bowing, Tibial bowing, Narrow chest, Short ...	OMIM:304120
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus	ORPHA:90652
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Short thumb, Clinodactyly...	ORPHA:1708
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C...	OMIM:300963
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Bra...	ORPHA:254346
Jacobsen Syndrome	Frontal bossing, Broad hallux phalanx, Finger syndactyly, Ventricular septal defect, Toe syndacty...	ORPHA:2308
2Q37 Microdeletion Syndrome	Frontal bossing, Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Short statur...	ORPHA:1001
Joubert Syndrome 39	Occipital encephalocele	OMIM:619562
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus	OMIM:614643
Srd5A3-Cdg	Coloboma, Palmoplantar keratoderma	ORPHA:324737
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Coloboma	OMIM:617306
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Abnormal acetabulum morphology, Long clavicles, Postaxial polydactyly, R...	ORPHA:397715
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Osteolys...	ORPHA:371428
Alagille Syndrome	Frontal bossing, Hypoplasia of the ulna, Ventricular septal defect, Brachycephaly, Clinodactyly o...	ORPHA:52
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response, Depression	OMIM:620114
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal toe morphology, Coloboma, Abnormal finger morphology	OMIM:163200
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus	ORPHA:1454
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Mitral stenosis, Cam...	ORPHA:2008
Solitary Median Maxillary Central Incisor	Coloboma, Cyclopia, Holoprosencephaly	OMIM:147250
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Sp...	ORPHA:958
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Preaxial polydactyly, Anence...	OMIM:616546
Silver-Russell Syndrome 3	Frontal bossing, Syndactyly, Short stature, Postnatal growth retardation, Small hand, Clinodactyl...	OMIM:616489
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly	ORPHA:2162
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Stiff-Person Syndrome	Depression, Exaggerated startle response, Opisthotonus	OMIM:184850
Split Cord Malformation	Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc...	ORPHA:573278
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor...	ORPHA:3472
Craniosynostosis 2	Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang...	OMIM:604757
Orofaciodigital Syndrome I	Frontal bossing, Syndactyly, Short stature, Myelomeningocele, Hydrocephalus, Abnormal heart morph...	OMIM:311200
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma	OMIM:619318
Crouzon Syndrome	Frontal bossing, Sagittal craniosynostosis, Hydrocephalus, Brachycephaly, Lambdoidal craniosynost...	OMIM:123500
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hyp...	OMIM:311900
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,...	OMIM:614800
Orofaciodigital Syndrome Type 6	Frontal bossing, Syndactyly, Mesoaxial polydactyly, Short stature, Central Y-shaped metacarpal, P...	ORPHA:2754
Duplication Of The Pituitary Gland	Encephalocele	ORPHA:314621
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Meningocele, Chorioretinal coloboma	ORPHA:2031
Rhombencephalosynapsis	Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala...	ORPHA:59315
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Coloboma, Rhizomelia, 2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:615877
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Craniosynostosis, Proboscis, Postaxial polydactyly, Postnatal gro...	OMIM:605627
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Coloboma, Hydrocephalus	OMIM:615249
Microphthalmia, Lenz Type	Finger syndactyly, Abnormal clavicle morphology, Camptodactyly of finger, Optic disc coloboma, Ab...	ORPHA:568
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phoc...	OMIM:276820
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Meningoencephalocele, Occipital encephalocele, Hydrocephalus	OMIM:236670
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Scapular winging, Short stature, Abnormal pulmonary valve morpho...	ORPHA:500
Bohring-Opitz Syndrome	Atrial septal defect, Syndactyly, Ventricular septal defect, Overlapping toe, Ulnar deviation of ...	OMIM:605039
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Umbilical hernia, Hydrocephalus, Holoprosencephaly	ORPHA:2166
Kbg Syndrome	Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly, Cervical ribs, Thorac...	ORPHA:2332
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Proximal placement of thumb, Postaxial foot polydactyly, Chorioretinal colobom...	ORPHA:139471
Hartsfield Syndrome	Syndactyly, Craniosynostosis, Alobar holoprosencephaly, Lobar holoprosencephaly, Growth delay, Ec...	OMIM:615465
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia,...	OMIM:114290
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Vater/Vacterl Association	Occipital encephalocele, Tethered cord, Spina bifida, Postnatal growth retardation, Patent urachu...	OMIM:192350
Holoprosencephaly 7	Omphalocele, Frontal bossing, Flat occiput, Alobar holoprosencephaly, Hydrocephalus, Cranial asym...	OMIM:610828
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Single transverse palmar crease, Tapered finger, Camptodactyly	ORPHA:435938
Hamamy Syndrome	Long toe, Syndactyly, Inguinal hernia, Down-sloping shoulders, Craniosynostosis, Tapered finger, ...	OMIM:611174
Autosomal Recessive Robinow Syndrome	Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal defect, Bilate...	ORPHA:1507
Neu-Laxova Syndrome 1	Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydranencephaly, ...	OMIM:256520
Lenz-Majewski Hyperostotic Dwarfism	Frontal bossing, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Short stat...	OMIM:151050
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele	OMIM:616300
Branchio-Oculo-Facial Syndrome	Preaxial hand polydactyly, Iris coloboma, Coloboma	ORPHA:1297
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Frontal bossing, Bowing of the long bones, Short stature, Aplasi...	ORPHA:1225
Atelosteogenesis, Type I	Encephalocele	OMIM:108720
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Inguinal hernia, Short stature, Camptodactyly of finger, Symphalangism affecti...	ORPHA:2990
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Inguinal hernia, Severe short stature, Arachnodactyly, Long palm, Camptodactyl...	ORPHA:2215
Joubert Syndrome 21	Encephalocele, Occipital encephalocele	OMIM:615636
Aicardi Syndrome	Postnatal growth retardation, Spina bifida	OMIM:304050
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Baller-Gerold Syndrome	Limited elbow movement, Brachycephaly, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of t...	OMIM:218600
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response	OMIM:616881
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Frontal bossing, Syndactyly, Hypoplastic right heart, Ventricular septal defect, Sho...	OMIM:616894
Cohen Syndrome	Finger syndactyly, Ventricular septal defect, Arachnodactyly, Sandal gap, Tapered finger, Short s...	ORPHA:193
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Cardiomeg...	ORPHA:1517
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida	OMIM:619480
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo...	ORPHA:2879
Aymé-Gripp Syndrome	Pericarditis, Inguinal hernia, Short stature, Rocker bottom foot, Craniosynostosis, Tapered finge...	ORPHA:1272
Meckel Syndrome, Type 1	Omphalocele, Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of fing...	OMIM:249000
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Congenital Disorder Of Glycosylation, Type Iq	Coloboma	OMIM:612379
Fanconi Anemia	Abnormal femur morphology, Triphalangeal thumb, Atrial septal defect, Clinodactyly of the 5th fin...	ORPHA:84
Dysosteosclerosis	Clavicular sclerosis, Sclerotic scapulae, Flared metaphysis, Abnormal metaphyseal trabeculation, ...	OMIM:224300
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec...	OMIM:306955
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Inguinal hernia, Severe short stature, Aplastic clavicle, Abnormal metacarpal ...	ORPHA:2658
Teebi-Shaltout Syndrome	Syndactyly, Turricephaly, Ulnar deviation of the hand, Ventricular septal defect, Single transver...	OMIM:272950
22Q11.2 Deletion Syndrome	Short stature, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Umbilical he...	ORPHA:567
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Growth ...	ORPHA:217346
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
17Q12 Microduplication Syndrome	Atrial septal defect, Finger syndactyly, Toe syndactyly	ORPHA:261272
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Brachycephaly, Clinodactyly of the ...	ORPHA:3103
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Coloboma	ORPHA:2399
Rubinstein-Taybi Syndrome 1	Single transverse palmar crease, Coloboma, Hypoplastic iliac wing, Prominent fingertip pads, Clin...	OMIM:180849
Familial Multiple Lipomatosis	Coloboma, Bowing of the long bones	ORPHA:199276
Wildervanck Syndrome	Meningocele	ORPHA:3456
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Short stature, Metatarsus adductus,...	OMIM:611962
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Inguinal hernia, Short femur, Metaphyseal spurs, Br...	OMIM:618188
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cardiomyopathy, Clinodactyly of the 5...	ORPHA:158687
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Tremor, Exaggerated startle response, Agitation, Truncal titubation	OMIM:618056
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Koolen-De Vries Syndrome Due To A Point Mutation	Postnatal growth retardation, Hydrocephalus, Spina bifida, Dural ectasia	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Postnatal growth retardation, Hydrocephalus, Spina bifida, Dural ectasia	ORPHA:363958
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Biparietal narrowing, Holoprosencephaly, Atrial septal defect, Atrio...	ORPHA:818
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno...	OMIM:269500
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Chorioretinal coloboma, Triphalangeal thumb, Atrial septal d...	OMIM:107480
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology	ORPHA:3224
Lateral Meningocele Syndrome	Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Short stature, Cryptorchidism,...	OMIM:130720
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Talipes equinovarus, Craniosynostosis	OMIM:601374
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ...	ORPHA:1512
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Inguinal hernia	ORPHA:1252
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Hemimegalencephaly	Cranial asymmetry	ORPHA:99802
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry, Abnormal pulmonary valve morphology, Pulmonic stenosis	ORPHA:137634
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Inguinal hernia, Camptodactyly of finger, Ulnar deviation of finger, Plagiocephaly, Talipes equin...	ORPHA:1101
Meckel Syndrome	Encephalocele, Hydrocephalus, Anencephaly, Lobar holoprosencephaly	ORPHA:564
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Iris coloboma	ORPHA:66629
Lateral Meningocele Syndrome	Inguinal hernia, Ventricular septal defect, Cryptorchidism, Meningocele, Umbilical hernia	ORPHA:2789
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall...	ORPHA:2710
Short Stature With Microcephaly And Distinctive Facies	Frontal bossing, Syndactyly, Brachydactyly, Severe short stature, Proximal placement of thumb, Ta...	OMIM:615789
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Inguinal hernia, Single transverse palmar crease, Metatarsus adduct...	OMIM:123450
Roberts-Sc Phocomelia Syndrome	Brachycephaly, Tetraphocomelia, Coloboma, Atrial septal defect, Phocomelia, Wrist flexion contrac...	OMIM:268300
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Frontal bossing, Syndactyly, Narrow joint spaces of the elbow, Postnatal growth retardation, Abno...	ORPHA:96182
X Small Rings	Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact...	ORPHA:96201
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Orofaciodigital Syndrome Iii	Postaxial foot polydactyly, Postaxial hand polydactyly, Pectus excavatum, Short sternum	OMIM:258850
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Inguinal hernia, Long clavicles, Arachnodactyly, Rocker bottom foot, Down-sloping sho...	OMIM:265000
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm	ORPHA:73246
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Knobloch Syndrome 2	Encephalocele	OMIM:618458
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Short stature, ...	ORPHA:794
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternu...	OMIM:620076
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Bowing of the legs, Coloboma, Large hands, Retinal coloboma, Long hallux	OMIM:617107
Cartilage-Hair Hypoplasia	Rhizomelia, Disproportionate short-limb short stature, Spinal dysraphism	ORPHA:175
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius	ORPHA:246
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb...	ORPHA:989
Ring Chromosome 7 Syndrome	Short stature, Single transverse palmar crease, Situs inversus totalis, Small hand, Brachycephaly...	ORPHA:1449
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o...	ORPHA:783
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Timothy Syndrome	Ventricular septal defect, Cardiomegaly, Cutaneous syndactyly, Tetralogy of Fallot, Patent forame...	OMIM:601005
Ring Chromosome 12 Syndrome	Syndactyly, Pectus excavatum, Abnormal 5th finger morphology, Symphalangism of the thumb, Clinoda...	ORPHA:1439
Larsen Syndrome	Finger syndactyly, Brachydactyly, Short stature, Craniosynostosis, Accessory carpal bones, Abnorm...	ORPHA:503
Robinow Syndrome	Frontal bossing, Syndactyly, Brachydactyly, Ventricular septal defect, Short stature, Bifid dista...	ORPHA:97360
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Deviation o...	ORPHA:464738
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Inguinal hernia, Down-sloping shoulders, Metatarsus adductus, Pectus excavatum, Broad...	OMIM:227330
Neurocutaneous Melanocytosis	Meningocele, Chorioretinal coloboma	ORPHA:2481
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Cardiomyopathy, Abnormal cardiac septum morphology, Shor...	OMIM:217980
Microgastria-Limb Reduction Defect Syndrome	Frontal bossing, Abnormal morphology of the radius, Aplastic clavicle, Hiatus hernia, Abnormality...	ORPHA:2538
Loeys-Dietz Syndrome 2	Syndactyly, Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Craniosynostosis, Protrusio a...	OMIM:610168
Autosomal Dominant Keratitis	Aniridia, Coloboma	ORPHA:2334
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Irritability, Exaggerated startle response	OMIM:617864
Cranioectodermal Dysplasia 2	Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Inguinal hernia, Craniosynostosis, Sho...	OMIM:613610
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Coloboma, Branchial anomaly, Hip dysplasia	ORPHA:453499
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Pectus excavatum, Broad palm	OMIM:618505
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Chorioretin...	OMIM:305600
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele, Hip dislocation	ORPHA:2003
Kbg Syndrome	Syndactyly, Single transverse palmar crease, Rib fusion, Cutaneous syndactyly, Thoracic kyphosis,...	OMIM:148050
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Short stature, Postaxial hand po...	ORPHA:2473
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat...	OMIM:261540
Marcus-Gunn Syndrome	Coloboma	ORPHA:91412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Hydrocephalus, Anencephaly	OMIM:615287
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Broad hallux, Postaxial polydactyly, Hydrocephalus, Plagiocephaly, Hip dysplasia...	ORPHA:457284
Orofaciodigital Syndrome Type 3	Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Thoracic kyphosis, Shor...	ORPHA:2752
Down Syndrome	Short palm, Ventricular septal defect, Single transverse palmar crease, Sandal gap, Short middle ...	OMIM:190685
Carpenter Syndrome 2	Single transverse palmar crease, Preaxial polydactyly, Brachycephaly, Coxa vara, Cutaneous finger...	OMIM:614976
Knobloch Syndrome 1	Occipital meningocele, Occipital encephalocele, Spina bifida occulta	OMIM:267750
Prader-Willi Syndrome	Short palm, Syndactyly, Short stature, Acromicria, Small hand, Narrow palm, Genu valgum, Short fo...	OMIM:176270
Joubert Syndrome 5	Occipital encephalocele	OMIM:610188
Kabuki Syndrome	Hydrocephalus, Small hand, Hip dislocation, Coloboma, Short middle phalanx of finger, Short 5th f...	ORPHA:2322
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Bohring-Opitz Syndrome	Ulnar deviation of the wrist, Pectus excavatum, Bilateral wrist flexion contracture, Coloboma, Fi...	ORPHA:97297
Donnai-Barrow Syndrome	Omphalocele, Umbilical hernia, Short sternum, Iris coloboma	OMIM:222448
Lathosterolosis	Abnormal thoracic spine morphology, Toe syndactyly, Postaxial hand polydactyly, Meningocele, Post...	ORPHA:46059
Cornelia De Lange Syndrome 1	Inguinal hernia, Single transverse palmar crease, Micromelia, Proximal placement of thumb, Hiatus...	OMIM:122470
Peters Plus Syndrome	Micromelia, Bicuspid pulmonary valve, Brachycephaly, Clinodactyly of the 5th finger, Spina bifida...	ORPHA:709
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Pectus excavatum, Short thumb, Hy...	OMIM:263750
Semilobar Holoprosencephaly	Short stature, Proboscis, Hydrocephalus, Hip dislocation, Abnormal heart morphology, Growth delay...	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Proboscis, Hydrocephalus, Hip dislocation, Abnormal heart morphology, Growth delay...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Proboscis, Hydrocephalus, Hip dislocation, Abnormal heart morphology, Growth delay...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Proboscis, Hydrocephalus, Hip dislocation, Abnormal heart morphology, Growth delay...	ORPHA:93924
Scarf Syndrome	Umbilical hernia, Inguinal hernia, Short sternum, Pectus carinatum	ORPHA:3134
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Umbilical hernia, Syndactyly	OMIM:614520
Fontaine Progeroid Syndrome	Atrial septal defect, Turricephaly, Syndactyly, Bicuspid aortic valve, Short stature, Craniosynos...	OMIM:612289
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Momo Syndrome	Large hands, Short sternum, Retinal coloboma	OMIM:157980
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Proximal placement of thumb, Short sternum, Clinodactyly of the 5th ...	OMIM:620113
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Momo Syndrome	Femoral bowing, Large hands, Short sternum, Chorioretinal coloboma, Congenital pseudoarthrosis of...	ORPHA:2563
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Tay-Sachs Disease	Exaggerated startle response, Tremor, Dysphagia, Depression, Dystonia, Mania, Laryngeal dystonia	ORPHA:845
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Craniosynostosis And Dental Anomalies	Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Short stature, Sagittal...	OMIM:614188
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Syndactyly, Hip dysplasia, Coloboma	OMIM:616975
Cerebrofacioarticular Syndrome	Syndactyly, Short stature, Abnormal heart morphology, Talipes equinovarus, Pulmonic stenosis, Cam...	ORPHA:314679
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Schinzel-Giedion Syndrome	Frontal bossing, Inguinal hernia, Overlapping toe, Hypoplastic pubic bone, Abnormal heart morphol...	ORPHA:798
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Ventricular septal defect, Short toe, Brachycephaly, Clinodactyly...	ORPHA:1519
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Fraser Syndrome 3	Short toe, Hydrocephalus, Cutaneous syndactyly	OMIM:617667
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Postaxial polydactyly, Coloboma, Hip dysplasia, Branchial anomaly, Talipes equinovarus	ORPHA:453504
Marshall-Smith Syndrome	Hallux valgus, Omphalocele, Thoracic scoliosis, Large sternal ossification centers, Bullet-shaped...	OMIM:602535
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Postaxial polydactyly, Coloboma, Hip dysplasia, Branchial anomaly, Talipes equinovarus	ORPHA:352665
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pe...	ORPHA:2886
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger	ORPHA:178303
Frontofacionasal Dysplasia	Cranium bifidum occultum	OMIM:229400
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short stature, Short tibia, Adactyly, Broad first metatarsal, Po...	ORPHA:2751
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Pectus carinatum, Short sternum, Umbilical hernia	OMIM:312830
Adams-Oliver Syndrome 1	Encephalocele	OMIM:100300
Fraser Syndrome	Encephalocele, Umbilical hernia, Myelomeningocele	ORPHA:2052
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Pectus carinatum	OMIM:616430
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Abs...	OMIM:214800
Esophageal Atresia	Omphalocele, Coloboma, Clinodactyly	ORPHA:1199
Microphthalmia, Syndromic 3	Coloboma, Rib fusion, Supernumerary ribs, Missing ribs	OMIM:206900
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Yunis-Varon Syndrome	Flat occiput, Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palm...	OMIM:216340
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand, Abnormal rib morphology	ORPHA:1300
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Anterior Segment Dysgenesis 2	Aniridia, Coloboma	OMIM:610256
Autosomal Dominant Robinow Syndrome	Frontal bossing, Finger syndactyly, Inguinal hernia, Short stature, Camptodactyly of finger, Micr...	ORPHA:3107
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Hydrocephalus, Genu valgum, Coloboma, Talipes equinovarus, Chori...	OMIM:619475
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Finger clinodactyly, Coronary artery stenosis, Brachydactyly	OMIM:602531
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Frontal bossing, Postnatal growth retardation, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous...	OMIM:620029
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Short stature, Brachycephaly, Short foot, Short palm, Clinodac...	ORPHA:264200
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Doors Syndrome	Frontal bossing, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, A...	ORPHA:79500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short stature, Postnatal growth retardation, Large placenta, Spinal dysraphism, Growth delay, Int...	ORPHA:96334
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Holoprosencephaly, Acrania	OMIM:618820
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Inlet ventricula...	OMIM:619534
Bloom Syndrome	Syndactyly, Postnatal growth retardation, Growth delay, Hand polydactyly, Dolichocephaly, Clinoda...	OMIM:210900
Simpson-Golabi-Behmel Syndrome	Omphalocele, Finger syndactyly, Inguinal hernia, Congenital hip dislocation, Ventricular septal d...	ORPHA:373
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Incontinentia Pigmenti	Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal hand morphology, Absent hand,...	ORPHA:464
Renpenning Syndrome 1	Pectus excavatum, Coloboma, Camptodactyly, Clinodactyly of the 5th finger, Synostosis of the prox...	OMIM:309500
Coffin-Siris Syndrome 12	Frontal bossing, Short stature, Hip subluxation, Short thumb, Slender finger, Noncommunicating hy...	OMIM:619325
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Broad hallux, Deviation of the hallux, Avascular necrosis of the capital femoral epip...	ORPHA:353277
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly	ORPHA:110
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Midface retrusion, Bilateral sing...	ORPHA:3253
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Finger syndactyly, Short stature, Down-sloping shoulders, Brachycephaly, Short f...	ORPHA:1974
Scalp-Ear-Nipple Syndrome	Frontal bossing, Finger syndactyly, Short stature, Cardiac myxoma, Calvarial skull defect, 3-4 fi...	OMIM:181270
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem...	OMIM:269150
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly	OMIM:614230
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Pectus excavatum, Finger syndactyly, Asymmetry of the thorax, Genu varum	ORPHA:1969
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Holoprosencephaly	OMIM:615948
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Dystonia	ORPHA:438216
Dubowitz Syndrome	Syndactyly, Inguinal hernia, Short stature, Single transverse palmar crease, Postnatal growth ret...	OMIM:223370
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response	OMIM:615574
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Overlapping toe, Tapered finger, Pectus excavatum, Long fingers, Small h...	OMIM:618371
Microphthalmia, Syndromic 5	Coloboma	OMIM:610125
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
Marfan Syndrome	Inguinal hernia, Mitral valve calcification, Spontaneous pneumothorax, Emphysema, Meningocele, Mi...	ORPHA:558
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus carinatum, Narrow greater sciatic notch, Short palm, Short greater sciatic notch, Flared i...	OMIM:312870
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormal metacarpal morphology	ORPHA:284160
Degcags Syndrome	Syndactyly, Toe syndactyly, Ventricular septal defect, Craniosynostosis, Hiatus hernia, Short thu...	OMIM:619488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad hallux, Avascular necrosis of the capital femoral epiphysis, Coloboma, Broad distal phalanx...	ORPHA:353281
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Scapular winging, Short metacarpal, Bicuspid aortic valve, Single transverse palmar c...	OMIM:150230
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Long fingers, Post...	OMIM:613355
Rapp-Hodgkin Syndrome	Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma	OMIM:129400
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Craniosynostosis, Unilateral brachydactyly, Plagiocephaly, Aplasia/Hypoplasia involvi...	ORPHA:1521
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda...	ORPHA:2750
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Dysphagia	OMIM:617527
Adult Syndrome	Finger syndactyly, Toe syndactyly, Split foot	ORPHA:978
Wiedemann-Rautenstrauch Syndrome	Long toe, Frontal bossing, Short humerus, Short femur, Thin long bone diaphyses, Camptodactyly of...	ORPHA:3455
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Frontal bossing, Toe clinodactyly, Ventricular septal defect, Sandal gap, Long fingers, Scaphocep...	OMIM:620330
Sandhoff Disease	Exaggerated startle response	OMIM:268800
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma	OMIM:618183
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig...	ORPHA:69085
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar hyperkeratosis,...	ORPHA:2907
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia of the radius, Abnormal rib ...	ORPHA:3404
Arima Syndrome	Postaxial foot polydactyly, Occipital meningocele, Postaxial hand polydactyly, Chorioretinal colo...	OMIM:243910
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ...	ORPHA:1896
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Short sternum	OMIM:257300
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Flexion contracture of finger, Meningocele, Palmoplantar keratoderma	ORPHA:1010
Bosma Arhinia Microphthalmia Syndrome	Coloboma, Inguinal hernia	OMIM:603457
Craniofacial Microsomia 1	Transverse facial cleft, Occipital encephalocele, Hydrocephalus, Branchial anomaly	OMIM:164210
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Clubbing, Prominent occiput, Clinodactyly of ...	ORPHA:96123
Coffin-Siris Syndrome 1	Inguinal hernia, Sandal gap, Single transverse palmar crease, Aplasia/Hypoplasia of the patella, ...	OMIM:135900
Neurocardiofaciodigital Syndrome	Syndactyly, Short stature, Double inlet left ventricle, Polydactyly, Atrial septal defect, Tetral...	OMIM:619869
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Pectus excavatum, Optic disc...	OMIM:309800
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Hennekam Syndrome	Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2136
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Coloboma, Hydrocephalus	OMIM:253280
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Intrauterine growth retardation...	ORPHA:1556
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypermobility of toe joints, Pectus excavatum, Short toe, Enlargement of the distal femoral epiph...	ORPHA:99413
Turner Syndrome	Hypermobility of toe joints, Pectus excavatum, Short toe, Enlargement of the distal femoral epiph...	ORPHA:881
Mosaic Monosomy X	Hypermobility of toe joints, Pectus excavatum, Short toe, Enlargement of the distal femoral epiph...	ORPHA:99228
Monosomy X	Hypermobility of toe joints, Pectus excavatum, Short toe, Enlargement of the distal femoral epiph...	ORPHA:99226
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Craniosynostosis, Metatarsus valgus, Abnormal met...	ORPHA:744
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the...	OMIM:620025
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Preaxial hand polyd...	ORPHA:2753
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Palmoplantar keratoderma, Sh...	ORPHA:2908
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Calcaneovalgus deformity, Long hallux, Iris coloboma, Long toe, Syndactyly...	ORPHA:261537
Fraser Syndrome 2	Short thorax, Cutaneous syndactyly	OMIM:617666
Mowat-Wilson Syndrome	Bicuspid aortic valve, Calcaneovalgus deformity, Iris coloboma, Long toe, Syndactyly, Broad hallu...	ORPHA:2152
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma, Ventricular septal d...	ORPHA:1071
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Calcaneovalgus deformity, Long hallux, Iris coloboma, Long toe, Syndactyly...	ORPHA:261552
Proximal Renal Tubular Acidosis	Coloboma	ORPHA:47159
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Dysphagia, Stereotypical hand wringing, Dystonia	ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Ectodermal Dysplasia/Short Stature Syndrome	Dysphagia	OMIM:616029
Corneal Dystrophy, Posterior Polymorphous, 4		OMIM:618031
Posterior Polymorphous Corneal Dystrophy		ORPHA:98973
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

MicroCT E9.5

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Grhl2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data