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Gene: Adamts20 MGI:2660628

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

ADAM metallopeptidase with thrombospondin type 1 motif 20

Synonyms:

bt, ADAMTS-20

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Adamts20 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 Adamts20 (0 diseases)
Human diseases predicted to be associated with Adamts20 (1019 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adamts20 by phenotypic similarity.

Disease	Matching phenotypes	Source
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Cafe-Au-Lait Spots, Multiple	Multiple cafe-au-lait spots	OMIM:114030
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Book Syndrome	Premature graying of hair	OMIM:112300
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615938
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Deafness, Congenital, With Total Albinism	Albinism	OMIM:220900
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, 3-4 finger cutaneous syndactyly, Talipes equinovarus, Triphalangeal thumb	OMIM:613681
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly	OMIM:615937
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Syndactyly-Polydactyly-Earlobe Syndrome	Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda...	OMIM:186350
Biemond Syndrome Ii	Preaxial hand polydactyly, Hydrocephalus	OMIM:210350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Crossed Polysyndactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Hyperkeratosis-Hyperpigmentation Syndrome	Multiple cafe-au-lait spots, Irregular hyperpigmentation	ORPHA:1336
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Rhizomelia	OMIM:166990
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Albinism, Oculocutaneous, Type V	Albinism	OMIM:615312
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal...	OMIM:612961
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:607624
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Summitt Syndrome	Syndactyly	OMIM:272350
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest	OMIM:172850
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
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
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Kleeblattschaedel	Hydrocephalus, Elbow ankylosis	OMIM:148800
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Hydrolethalus Syndrome 2	Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot polydactyly, Preaxial foot...	OMIM:614120
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Albinism	OMIM:300650
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot	DECIPHER:46
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow	ORPHA:3268
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Masa Syndrome	Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb	OMIM:303350
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Obesity And Hypopigmentation	Red hair	OMIM:620195
Split-Foot Deformity With Mandibulofacial Dysostosis	Split hand, Toe syndactyly, Split foot	OMIM:183700
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
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Thumb contracture, Hydrocephalus, Adducted thumb	OMIM:307000
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis	ORPHA:66633
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation	ORPHA:1538
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Uv-Sensitive Syndrome 1	Freckling, Pigmentation anomalies of sun-exposed skin	OMIM:600630
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Acalvaria	Holoprosencephaly, Postaxial hand polydactyly, Hydrocephalus, Spina bifida	ORPHA:945
Radial Aplasia, X-Linked	Absent radius, Hydrocephalus	OMIM:312190
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:277580
Aland Island Eye Disease	Albinism	OMIM:300600
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Nail dystrophy, Hyperpigmentation of the skin	ORPHA:46487
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Enlarged epiphyses, Metaphyseal dysplasia, Proximal placement of thumb, Hypoplastic ilia, Hydroce...	OMIM:613330
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Chudley-Mccullough Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:604213
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
1Q21.1 Microduplication Syndrome	Hydrocephalus, Hip dysplasia, Hip dislocation, Talipes equinovarus	ORPHA:250994
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti	ORPHA:1573
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White...	ORPHA:897
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onych...	ORPHA:2251
Intermediate Generalized Junctional Epidermolysis Bullosa	Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b...	ORPHA:79402
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydrocephalus	ORPHA:251046
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Meckel Syndrome, Type 3	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Postaxial foot polydactyly, P...	OMIM:607361
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Hydrocephalus, Lateral ventricle dilatation, Fo...	OMIM:602200
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia...	OMIM:113000
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Congenital Ptosis	Cafe-au-lait spot, Long eyelashes, Piebaldism	ORPHA:91411
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Griscelli Syndrome Type 1	Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation	ORPHA:79476
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Adducted thumb	ORPHA:275543
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Developmental And Epileptic Encephalopathy 36	Hydrocephalus, Small hand	OMIM:300884
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta	ORPHA:64754
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,...	OMIM:123150
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Shoulder dislocation, Arachnodactyly, Hydrocephalus, Adducted thumb	ORPHA:2181
Diencephalic Syndrome	Large hands, Hydrocephalus	ORPHA:1672
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Hydrocephalus, Polydactyly, Ventriculomegaly	OMIM:602501
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Aase-Smith Syndrome I	Slender finger, Hydrocephalus, Talipes equinovarus, Dandy-Walker malformation	OMIM:147800
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydacty...	OMIM:617866
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Hydrocephalus, Ventriculomegaly	OMIM:614830
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Corpus Callosum, Partial Agenesis Of, X-Linked	Hydrocephalus, Ventriculomegaly, Dislocated radial head	OMIM:304100
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of...	ORPHA:218
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hydrocephalus, Elbow flexion contracture	OMIM:619470
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta...	OMIM:300863
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t...	ORPHA:2635
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Absent thumb	OMIM:276950
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Fibular hypoplasia, Radioulnar synosto...	ORPHA:1788
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Spina bifida, Myelomeningocele, Hydrocephalus,...	ORPHA:2437
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Hydrocephalus, Short 4th metacarpal	ORPHA:2183
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation, Nail dysplasia	OMIM:225050
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Hydrocephalus, H...	OMIM:241800
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Postaxial hand polydactyly, Hydrocephalus	ORPHA:83473
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair	ORPHA:1810
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb	ORPHA:1825
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap...	OMIM:609638
Hypomelanosis Of Ito	Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger	OMIM:300337
Spastic Paraplegia 23, Autosomal Recessive	Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti...	OMIM:270750
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Hydrocephalus...	ORPHA:163966
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Clinodactyly, Ulnar deviation of the wrist, Hydrocephalus, Ventriculomegaly	OMIM:618577
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys...	OMIM:252100
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda...	OMIM:615986
Glucocorticoid Deficiency 2	Hyperpigmentation of the skin	OMIM:607398
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:324416
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly...	OMIM:600325
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Monosomy 5P	Finger syndactyly, Small hand	ORPHA:281
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Holoprosencephaly, Clinodactyly	ORPHA:1445
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Foot polydactyly, Ventriculom...	ORPHA:60040
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling	ORPHA:1547
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Metaphyseal widening, Hydr...	OMIM:224400
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc...	ORPHA:15
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Men...	ORPHA:1908
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Clinodactyly	OMIM:619091
Neural Tube Defects, Susceptibility To	Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly	OMIM:182940
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Muenke Syndrome	Tarsal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis	ORPHA:53271
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Bilateral talipes equinovarus	OMIM:616521
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Postaxial hand polydactyly, Hydrocephalus, Dandy-Walker malformation	OMIM:220220
Ectodermal Dysplasia With Mental Retardation And Syndactyly	3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus	ORPHA:1861
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly	ORPHA:1914
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand, Ge...	OMIM:615630
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, ...	OMIM:611134
Joubert Syndrome 33	Syndactyly	OMIM:617767
Edinburgh Malformation Syndrome	Long fingers, Hydrocephalus, Slender finger, Ulnar deviation of finger	ORPHA:1895
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Temple Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Small hand, Short foot	ORPHA:254516
Moebius Syndrome	Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru...	OMIM:157900
Fried Syndrome	Hydrocephalus	ORPHA:85335
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Hydrocephalus	ORPHA:1516
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Bilateral talipes equinovarus	OMIM:618174
Griscelli Syndrome Type 2	Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79477
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Thanatophoric Dysplasia Type 2	Encephalocele, Micromelia, Hydrocephalus, Holoprosencephaly, Abnormal metaphysis morphology, Vent...	ORPHA:93274
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Congenital Hydrocephalus	Hydrocephalus, Ventriculomegaly, Colpocephaly	ORPHA:2185
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Deviation of the 5th finger, V...	OMIM:616362
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Hydroc...	ORPHA:99947
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo...	ORPHA:2655
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hydrocephalus, Radioulnar synostosis, Short palm	ORPHA:171839
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta	ORPHA:1514
Weaver Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Large hands, Talipes equinovarus, Abnorma...	ORPHA:3447
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous finger syndact...	OMIM:613573
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp...	ORPHA:3429
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Genu varum, Hip dislocation, Deep palmar crease, Clinodactyly of the 5th finger, Brac...	OMIM:619451
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Rhombencephalosynapsis	Finger syndactyly, Hydrocephalus, Polydactyly, Complete duplication of thumb phalanx, Short phala...	ORPHA:59315
Abcd Syndrome	White eyelashes, White eyebrow, Albinism	OMIM:600501
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo	OMIM:221350
Albers-Schönberg Osteopetrosis	Hydrocephalus, Genu valgum, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnorm...	ORPHA:53
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Overlapping toe, Hydrocephalus, Cutaneous syndactyly, Talipes equinovarus, Camp...	OMIM:617822
Cronkhite-Canada Syndrome	Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Ab...	ORPHA:2930
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha...	ORPHA:2994
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Multiple lentigines, Vitiligo	ORPHA:101003
Carney Complex, Type 1	Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism	OMIM:160980
Alexander Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Congenital Muscular Dystrophy, Fukuyama Type	Hydrocephalus, Camptodactyly of finger, Ventriculomegaly	ORPHA:272
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Hydrocephalus, Abnormal metacarpal morphology	ORPHA:93262
Nasu-Hakola Disease	Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly	ORPHA:2770
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ...	OMIM:613684
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Abnormal metacarpal morphology, Ventriculomegaly	ORPHA:3224
Waardenburg Syndrome, Type 3	Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ...	OMIM:148820
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ventriculomegaly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal...	ORPHA:1647
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Abnormality of the elbow, Brachydactyly	ORPHA:2701
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Hypoplasia of the radius, Radioulnar synostosis...	OMIM:212780
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy	OMIM:613988
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:219730
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Hydrocephalus	OMIM:300558
Crane-Heise Syndrome	Finger syndactyly, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, Talipes equinovarus, ...	ORPHA:1512
Ataxia-Telangiectasia	Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots	ORPHA:100
Lelis Syndrome	Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Nail dystrophy, Sparse hair, Ab...	ORPHA:140936
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Short long bone, Apl...	ORPHA:2256
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Aicardi-Goutieres Syndrome 4	Hydrocephalus, Ventriculomegaly, CSF lymphocytic pleiocytosis	OMIM:610333
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Talip...	OMIM:236500
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn...	ORPHA:3440
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar...	OMIM:187600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Single transverse palmar crease, Camptodactyly of ...	OMIM:619951
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Tetrasomy 15Q26	Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly	OMIM:614846
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly	OMIM:272440
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp...	ORPHA:3214
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep...	OMIM:100800
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta	ORPHA:2475
Adams-Oliver Syndrome 2	Single transverse palmar crease, Hydrocephalus, Lateral ventricle dilatation, Absent distal phala...	OMIM:614219
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Hip dislocation, Ventriculomegaly, Coxa valga	OMIM:109120
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses,...	OMIM:618162
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Brachydactyly	ORPHA:2180
Infantile Sialic Acid Storage Disease	Hydrocephalus, Metaphyseal irregularity	OMIM:269920
Temple Syndrome	Short foot, Clinodactyly, Small hand, Hydrocephalus	OMIM:616222
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Increased CSF lactate, Colpocephaly, Increased CSF lysine concentration, Ventricul...	OMIM:616034
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly	ORPHA:261272
Gorlin Syndrome	Palmar pits, Hydrocephalus, Arachnodactyly, Brachydactyly	ORPHA:377
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Absent toe, Split hand, Hydrocephalus, Absent ha...	ORPHA:974
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Hydrocephalus,...	ORPHA:1865
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Dyskeratosis Congenita, Autosomal Recessive 6	Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy	OMIM:616353
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Micromelia, Brachydactyly	ORPHA:2145
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Hypopigmented skin patches	ORPHA:220402
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Gracile Bone Dysplasia	Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly	OMIM:602361
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Ritscher-Schinzel Syndrome 1	Syndactyly, Hydrocephalus, Dandy-Walker malformation	OMIM:220210
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Fanconi Anemia, Complementation Group R	Hydrocephalus, Radial dysplasia, Absent thumb	OMIM:617244
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Congenital Toxoplasmosis	Hydrocephalus, Ventriculomegaly	ORPHA:858
Myopathy, Centronuclear, X-Linked	Hydrocephalus, Arachnodactyly, Slender toe, Dandy-Walker malformation	OMIM:310400
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Lobar holoprosencepha...	OMIM:614701
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Hydrocephalus, Ventriculomegaly	ORPHA:2169
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93260
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Hydrocephalus, Ventriculomegaly, Postaxial polydactyly	OMIM:603387
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Coxa valga, Hydrocephalus, Hammertoe, Hip dysplasia, Colpocephaly, Acetabular dysplasia, Ventricu...	OMIM:619833
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Acrofrontofacionasal Dysostosis 2	Syndactyly, Hand polydactyly, Broad hallux, Broad thumb	OMIM:239710
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:251270
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Melanocytic nevus, Fine...	ORPHA:978
Triploidy	Finger syndactyly, Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:3376
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Hydrocephalus, Femoral...	OMIM:207410
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly	OMIM:620156
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Trisomy 1Q	Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Hydrocephalus...	ORPHA:261344
Houge-Janssens Syndrome 1	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly	OMIM:616355
Otopalatodigital Syndrome Type 2	Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger...	ORPHA:90652
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene...	ORPHA:3322
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Ab...	OMIM:154400
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc...	OMIM:601707
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hydrocephalus, Hand polydactyly	OMIM:314390
Multiple Sulfatase Deficiency	Broad hallux, Hydrocephalus, Increased CSF protein concentration, Broad thumb, Ventriculomegaly	OMIM:272200
Aarskog-Scott Syndrome	Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Small hand, Broad pa...	ORPHA:915
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Cubitus valgus, Syndactyly, Hydrocephalus, Congenital hip dislocation	OMIM:104350
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys...	OMIM:101200
Meckel Syndrome, Type 6	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Postaxial foot p...	OMIM:612284
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:163961
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Syndactyly, Short middle phalanx of the 5th finger, Short distal ...	OMIM:180860
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Arachnodactyly, Broad hallux, Proximal placement of thumb, Tapered finger, Spina b...	OMIM:613776
Self-Improving Dystrophic Epidermolysis Bullosa	Abnormality of skin pigmentation, Abnormality of the subungual region, Anonychia, Nail dystrophy	ORPHA:79411
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Hydrocephalus, Dandy-Walker malformation, Drumstick terminal phalanges	OMIM:612938
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Intellectual Developmental Disorder, Autosomal Dominant 65	Single transverse palmar crease, Noncommunicating hydrocephalus, Short foot, Short palm, Clinodac...	OMIM:619320
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:613153
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Ventriculomegaly	ORPHA:66629
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Hydrocephalus, Short foot, Hand polydactyly, Foot polydacty...	ORPHA:250989
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm	ORPHA:73246
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Short 5th finger, Polydactyly, Ectrodactyly, Clinodactyly of the 5th finger	ORPHA:397590
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand	OMIM:616489
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,...	OMIM:305400
Hydrolethalus	Postaxial hand polydactyly, Anencephaly, Hydrocephalus, Micromelia	ORPHA:2189
3C Syndrome	Finger syndactyly, Ventriculomegaly, Hydrocephalus, Hand polydactyly, Abnormal hip bone morpholog...	ORPHA:7
Bresek Syndrome	Postaxial hand polydactyly, Hydrocephalus	ORPHA:85284
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Krabbe Disease	Hydrocephalus, Increased CSF protein concentration	OMIM:245200
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Abse...	OMIM:607323
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius	ORPHA:246
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Rocker bottom foot, Hydrocephalus, Short 2nd toe, Hip dysplasia, Clinodactyly of the 5...	OMIM:612582
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Short metatarsal, ...	OMIM:101800
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Hydrocephalus	OMIM:601794
Pentalogy Of Cantrell	Encephalocele, Abnormal tibia morphology, Split hand, Hydrocephalus, Anencephaly, Aplasia/Hypopla...	ORPHA:1335
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus	OMIM:620343
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hallux valgus, Rhizomelia, Sandal gap, Spatulate thumbs, Broad distal phalanges of all fingers, M...	OMIM:245600
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Hydrocephalus, Small hand, Camptodactyly, Dandy-Walker malformation, Bilateral single transverse ...	ORPHA:459061
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411511
Tetrasomy 5P	Overlapping toe, Short hallux, Long fingers, Hydrocephalus, Talipes equinovarus, Clinodactyly of ...	ORPHA:3309
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida	OMIM:207950
Larsen Syndrome	Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of...	ORPHA:503
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen...	ORPHA:238468
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones	ORPHA:1323
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the 5th finger, Spina b...	ORPHA:1786
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Congenital hip dislocation, Tapered finger, Delayed epiphyseal ossification, Hydrocephalus, Flare...	OMIM:616007
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Hydrocephalus, Brachydactyly	ORPHA:2075
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Hydrocephalus, Br...	ORPHA:87
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism	OMIM:614073
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Ventriculomegaly	OMIM:616038
Nephronophthisis 18	Hydrocephalus	OMIM:615862
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Hydrocephalus, Postaxial polydactyly, Ventriculomegaly	OMIM:614576
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
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Metaphyseal widening, Hydrocephalus, Diaphyseal sclerosis, Erlenmeyer flask def...	OMIM:618476
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly	ORPHA:65285
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Camptodactyly, Tapered finger	ORPHA:435938
Pseudotrisomy 13 Syndrome	Encephalocele, Postaxial hand polydactyly, Hydrocephalus, 2-3 toe syndactyly, Postaxial foot poly...	OMIM:264480
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Single transverse palmar cr...	ORPHA:93932
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short toe, Hydrocephalus, Anencephaly, Broad palm, Shor...	OMIM:269860
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p...	OMIM:274000
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o...	OMIM:615789
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h...	OMIM:619879
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:2318
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence...	OMIM:616546
Osteopetrosis, Autosomal Recessive 2	Hydrocephalus, Diaphyseal sclerosis, Genu valgum	OMIM:259710
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Spina bifida occulta, Small hand, Short 4th metacarpal	ORPHA:1787
Fraser Syndrome 3	Short toe, Hydrocephalus, Cutaneous syndactyly	OMIM:617667
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o...	ORPHA:783
Chromosome 6Q24-Q25 Deletion Syndrome	Sandal gap, Hydrocephalus, Small hand, Lateral ventricle dilatation, Prominent fingertip pads	OMIM:612863
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Hydrocephalus, Split hand, Radial devi...	OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Arachnodactyly, Abnormal hip bone morphology	ORPHA:2720
Osteopetrosis, Autosomal Recessive 1	Hydrocephalus, Flared metaphysis, Femur fracture, Coxa vara	OMIM:259700
19P13.12 Microdeletion Syndrome	Short palm, Finger syndactyly, Sandal gap, Deep palmar crease, Toe clinodactyly, Clinodactyly of ...	ORPHA:254346
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Short foot, Short...	ORPHA:1001
Iniencephaly	Encephalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Myelomeningocele, Hydrocephalus, Ane...	ORPHA:63259
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb...	ORPHA:989
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Clinodactyly, Abnormality of the hand, Camptodactyly	ORPHA:369891
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ...	OMIM:603671
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Hermansky-Pudlak Syndrome 7	Ocular albinism, Albinism	OMIM:614076
Craniofacial Dyssynostosis With Short Stature	Hydrocephalus, Ventriculomegaly	OMIM:218350
Joubert Syndrome	Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:475
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Hydrocephalus, Short toe, Delayed ossification of carpal bones, Short distal phal...	OMIM:239300
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly	ORPHA:2332
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:225790
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormality of skin pigmentation, Premature graying of hair, Abnormal hair morphology	ORPHA:1979
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Overlapping fingers	OMIM:618316
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hydrocephalus, Broad thumb	ORPHA:585
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Lateral ventricular asymmetry, Arachno...	OMIM:616914
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short metatarsal, Tibial bowing, Femoral bowing, Short metacarpal, Ra...	OMIM:304120
Cole-Carpenter Syndrome	Communicating hydrocephalus, Crumpled long bones, Abnormal metaphysis morphology, Bowing of the l...	ORPHA:2050
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Fanconi Anemia, Complementation Group B	Hydrocephalus, Ventriculomegaly, Absent thumb, Bilateral radial aplasia	OMIM:300514
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot...	ORPHA:2008
Williams-Beuren Region Duplication Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:609757
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Postaxia...	ORPHA:221120
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Abnormal fin...	ORPHA:314585
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Overlapping toe, Single transverse palmar crease, Tapered finger, Short thumb, Ane...	OMIM:619148
Constricting Bands, Congenital	Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus	OMIM:217100
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Small hand, Short foot, Hip dysplasia, Dilated third ventricle, Ventriculomegaly	ORPHA:500055
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa...	ORPHA:3103
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus, Ventriculomegaly	ORPHA:370959
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Deviation of the 2nd finger,...	ORPHA:464738
Arachnoiditis	Hydrocephalus	ORPHA:137817
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l...	OMIM:605039
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Sandal gap, Ventriculomegaly, Abnormal fibula morphology	ORPHA:1812
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Polydactyly, Over...	OMIM:300960
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Ventriculomegaly	OMIM:616430
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Trisomy 17P	Clinodactyly of the 5th finger, Hydrocephalus, Tapered finger	ORPHA:261290
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A...	ORPHA:570
Mend Syndrome	Overlapping toe, Broad hallux, Long fingers, Hydrocephalus, 2-3 toe syndactyly, Hand polydactyly,...	ORPHA:401973
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Hand polydactyly, Foot polydactyly	ORPHA:220493
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Preaxial hand po...	OMIM:107480
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia involving bones of the...	ORPHA:2369
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Peho Syndrome	Hydrocephalus, Ventriculomegaly, Tapered finger	ORPHA:2836
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fine hair	ORPHA:1806
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Hydrocephalus	OMIM:612940
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Split hand, Hypoplasia of the ra...	ORPHA:958
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Toe clinodactyly, Clinodactyly of ...	ORPHA:217346
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Hand polydactyly	ORPHA:220497
47,Xyy Syndrome	Finger clinodactyly, Hydrocephalus	ORPHA:8
Campomelic Dysplasia	Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hypoplasia, Femoral bowing, Tib...	OMIM:114290
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Hydrocephalus, Nasofrontal encephalocele, Ventriculomegaly	OMIM:614195
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Single transverse palmar crease, Metatarsus adductus, Short metatar...	OMIM:123450
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Finger syndactyly, Proximal placement of thumb	ORPHA:139471
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Abnormality of skin pigmentati...	OMIM:308300
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Metata...	ORPHA:235
Mirage Syndrome	Rocker bottom foot, Radial club hand, Hydrocephalus, Talipes equinovarus, Overlapping fingers	OMIM:617053
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad...	OMIM:311900
Ring Chromosome 12 Syndrome	Syndactyly, Clinodactyly, Abnormal 5th finger morphology, Symphalangism of the thumb	ORPHA:1439
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Crouzon Syndrome	Hydrocephalus	ORPHA:207
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
X Small Rings	Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,...	ORPHA:96201
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98794
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Rocker bottom foot, Hydrocephalus, 2-3 toe syn...	ORPHA:163979
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydactyly, Finger clin...	ORPHA:2754
Emanuel Syndrome	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Dandy-Walker malformation	OMIM:609029
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism	OMIM:614074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ...	OMIM:613154
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Hydrocephalus, Tibial bowing, Femoral bowing, Mesomelia, Palmoplantar cutis laxa	OMIM:616482
Primary Ciliary Dyskinesia	Hydrocephalus, Clubbing, Ventriculomegaly	ORPHA:244
Chediak-Higashi Syndrome	Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy...	OMIM:214500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hallux valgus, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Hypoplastic ilia...	ORPHA:536467
Mucopolysaccharidosis, Type Vii	Metatarsus adductus, Hydrocephalus, Genu valgum, Narrow greater sciatic notch, Talipes equinovaru...	OMIM:253220
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Metatarsus adductus, Metaphyseal widening, Hydrocephalus, Genu valgum, Talipes eq...	OMIM:182212
Distal Triplication 15Q	Hydrocephalus, Arachnodactyly, Dandy-Walker malformation, Camptodactyly	ORPHA:314588
Cole-Carpenter Syndrome 2	Hydrocephalus, Narrow iliac wing	OMIM:616294
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Colpocephaly, Hydrocephalus, Ventriculomegaly	OMIM:615219
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger	ORPHA:178303
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Tapered finger	OMIM:613603
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossification of hand ...	OMIM:109400
Hermansky-Pudlak Syndrome 8	Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali...	OMIM:614077
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Ventriculomegaly, Toe syndactyly, Short foot, Short palm, Clinodactyly of the ...	ORPHA:264200
Congenital Sialidosis Type 2	Hydrocephalus, Polydactyly	ORPHA:93400
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Short palm, Clinodactyly, Brachydactyly	OMIM:217980
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Walker-Warburg Syndrome	Metatarsus valgus, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	ORPHA:899
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Hydrocephalus, Abnormal fin...	ORPHA:2658
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Hydrocephalus, Dandy-Walker malformation, Ventriculomegaly, Adducted thumb	OMIM:614643
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Metaphyseal widening, Split hand, Hydrocephalus, Genu valgum, Cervical myel...	OMIM:253200
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly of the 5th finger...	ORPHA:457284
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C...	OMIM:269500
Hamamy Syndrome	Long toe, Syndactyly, Down-sloping shoulders, Tapered finger, Long fingers, Hip dysplasia, Clinod...	OMIM:611174
Prader-Willi Syndrome	Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Hip dysplasia, Radial d...	OMIM:176270
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Short thumb, Hypoplasia of the ra...	OMIM:263750
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Postaxial hand polydactyly, Hydrocephalus, Posta...	OMIM:608091
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Plasminogen Deficiency, Type I	Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:217090
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Aplasia/Hypoplasia of the middle phalanges o...	OMIM:151050
Hurler Syndrome	Hypoplasia of the femoral head, Coxa valga, Metaphyseal widening, Hydrocephalus, Flared iliac win...	OMIM:607014
Emanuel Syndrome	Hydrocephalus, Congenital hip dislocation, Ventriculomegaly, Dandy-Walker malformation	ORPHA:96170
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Narrow palm, Slender toe, Genu val...	ORPHA:193
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Broad palm	OMIM:618505
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Abnormal finger mor...	ORPHA:3472
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Meckel Syndrome, Type 1	Dilated fourth ventricle, Syndactyly, Bowing of the long bones, Occipital encephalocele, Ventricu...	OMIM:249000
Cerebrofacioarticular Syndrome	Syndactyly, Talipes equinovarus, Camptodactyly, Ventriculomegaly, Caudal appendage	ORPHA:314679
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, A...	ORPHA:2911
Pettigrew Syndrome	Aqueductal stenosis, Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation	OMIM:304340
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Abnormal metaphysis morphology...	ORPHA:1517
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray...	ORPHA:163746
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Hydrocephalus	ORPHA:1834
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Single transverse palmar crease, Ventriculomegaly	OMIM:614969
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Meningocele, Spina bifida occulta, Camptodactyly of finger	ORPHA:2311
Griscelli Syndrome	Encephalocele, Hydrocephalus	ORPHA:381
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom foot, Met...	OMIM:272950
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Subependymal cyst...	OMIM:619895
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po...	ORPHA:2751
Diabetic Embryopathy	Hydrocephalus, Spinal dysraphism	ORPHA:1926
Acquired Aneurysmal Subarachnoid Hemorrhage	Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate	ORPHA:90065
Orofaciodigital Syndrome I	Syndactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Polydactyly, Radial deviation of fing...	OMIM:311200
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t...	ORPHA:794
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Metatarsus adductus, Small hand, Genu valgum, Short foot, Lateral ventricle dilatation, Normal pr...	ORPHA:300570
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus...	OMIM:605627
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Fra...	OMIM:618188
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Abnormal palmar dermatoglyphics, Camptodactyly of finger, Spin...	ORPHA:2092
Craniolenticulosutural Dysplasia	Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th...	ORPHA:50814
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Hartsfield Syndrome	Syndactyly, Alobar holoprosencephaly, Lobar holoprosencephaly, Ectrodactyly, Semilobar holoprosen...	OMIM:615465
Bardet-Biedl Syndrome	Finger syndactyly, Postaxial hand polydactyly	ORPHA:110
Mucopolysaccharidosis Type 1	Hydrocephalus, Split hand, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal ...	ORPHA:579
Osteopathia Striata With Cranial Sclerosis	Arachnodactyly, Hydrocephalus, Osteopathia striata, Spina bifida occulta, Fibular hypoplasia, Tal...	OMIM:300373
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H...	ORPHA:79430
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hydrocephalus, Holoprosencephaly	ORPHA:77298
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ...	OMIM:209900
Lowry-Maclean Syndrome	Hydrocephalus, Single transverse palmar crease	ORPHA:2409
Desmosterolosis	Rhizomelia, Hydrocephalus, Bilateral talipes equinovarus, Joint contracture of the hand, Ventricu...	OMIM:602398
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Abnormal morphology of ulna, Spina bif...	ORPHA:84
Desmosterolosis	Metatarsus adductus, Hydrocephalus, Ventriculomegaly, Micromelia	ORPHA:35107
Beare-Stevenson Cutis Gyrata Syndrome	Overlapping toe, Hydrocephalus, Palmoplantar cutis laxa, Limited elbow extension, Ventriculomegaly	OMIM:123790
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Patellar aplasia, Hip dis...	OMIM:265000
1Q44 Microdeletion Syndrome	Hydrocephalus, Ventriculomegaly	ORPHA:238769
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypoplasia of the radius, Hip dislocation	ORPHA:3412
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Normal pressure hydrocephalus, Congenital finger flexion contr...	OMIM:620351
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Split hand	OMIM:309900
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Monosomy 18Q	Arachnodactyly, Abnormal palmar dermatoglyphics, Tapered finger, Hydrocephalus, Talipes equinovarus	ORPHA:1600
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
Focal Dermal Hypoplasia	Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polydactyly, Osteopa...	OMIM:305600
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, E...	ORPHA:2462
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the pelvis, Hydrocephalus	ORPHA:3301
Kbg Syndrome	Syndactyly, Single transverse palmar crease, Cutaneous syndactyly, Radial deviation of finger, Sh...	OMIM:148050
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Marshall-Smith Syndrome	Hallux valgus, Bullet-shaped middle phalanges of the hand, Hydrocephalus, Distal widening of meta...	OMIM:602535
Hurler Syndrome	Camptodactyly of finger, Hydrocephalus, Abnormality of the elbow, Narrow pelvis bone, Abnormal di...	ORPHA:93473
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B...	ORPHA:2211
Aymé-Gripp Syndrome	Rocker bottom foot, Tapered finger, Hydrocephalus, Radioulnar synostosis, Reduced arm span, Campt...	ORPHA:1272
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Hip dysplasia, Hydrocephalus	OMIM:619377
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand	ORPHA:1300
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Foot polydactyly, Short palm	ORPHA:268249
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Holoprosencephaly, Clinodactyly of the 5th fi...	ORPHA:1587
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Slender long bone, Hydrocephalus	OMIM:618590
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Broad n...	ORPHA:464
Vacterl/Vater Association	Finger syndactyly, Occipital encephalocele, Preaxial hand polydactyly, Anencephaly, Aplasia/Hypop...	ORPHA:887
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Cafe-au-lait spot, Trichorr...	ORPHA:84064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th...	ORPHA:568
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Femur fracture, Lateral ventricle dilatation	OMIM:612301
Neu-Laxova Syndrome 1	Finger syndactyly, Ventriculomegaly, Toe syndactyly, Hydranencephaly, Rocker bottom foot, Microme...	OMIM:256520
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Absent palmar crease, Camptodactyly	OMIM:614230
Raine Syndrome	Bowing of the long bones, Micromelia, Hydrocephalus, Long hallux, Brachydactyly	OMIM:259775
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Camptodactyly, C...	OMIM:227330
Smith-Lemli-Opitz Syndrome	Overlapping toe, Micromelia, Proximal placement of thumb, Metatarsus adductus, Short thumb, 2-3 t...	OMIM:270400
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad thumb, Brachyd...	OMIM:616894
Meckel Syndrome	Encephalocele, Bowing of the long bones, Preaxial hand polydactyly, Postaxial hand polydactyly, H...	ORPHA:564
Dyskeratosis Congenita, Digenic	Abnormality of skin pigmentation, Alopecia, Sparse eyelashes, Nail dystrophy	OMIM:620040
Tenorio Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:616260
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous syndactyly, Talipes equi...	OMIM:620029
Monosomy 9Q22.3	Palmar pits, Hydrocephalus, Polydactyly, Ventriculomegaly	ORPHA:77301
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Autosomal Recessive Robinow Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas...	ORPHA:1507
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Aqueductal stenosis, Long fingers, Hydrocephalus, Bilateral talipes e...	OMIM:619512
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Postaxial hand polydactyly, Hydrocephalus	ORPHA:1454
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Hydrocephalus, Deep palmar crease, Clinodactyly of the 5...	OMIM:115150
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Spina bifida, Preaxial hand polydactyly, Abnormal hip...	ORPHA:261318
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar cutis gyrata, Hydrocephalus, Palmoplantar keratoderma	ORPHA:1555
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Ventriculomegaly	OMIM:616538
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Hypoglycorrhachia, Brachydactyly	ORPHA:168577
Osteopetrosis, Autosomal Recessive 5	Hydrocephalus, Flared metaphysis, Hip subluxation, Ventriculomegaly	OMIM:259720
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation	ORPHA:2719
Stromme Syndrome	Hydrocephalus, Preaxial polydactyly	OMIM:243605
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Bilateral single transverse palma...	ORPHA:3253
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Hydrocephalus, Genu valgum, Deep palmar crease, Palmoplantar keratod...	ORPHA:1340
Baller-Gerold Syndrome	Carpal bone aplasia, Hypoplasia of the ulna, Radial deviation of the hand, Short humerus, Limited...	OMIM:218600
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda...	ORPHA:2750
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Dextrocardia	Hydrocephalus, Congenital hip dislocation	ORPHA:1666
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
H Syndrome	Hallux valgus, Hydrocephalus, Camptodactyly	ORPHA:168569
Jacobsen Syndrome	Clinodactyly of the 5th finger, Hydrocephalus, Holoprosencephaly, Brachydactyly	OMIM:147791
Mosaic Variegated Aneuploidy Syndrome 1	Hydrocephalus, Short sternum, Ventriculomegaly, Dandy-Walker malformation	OMIM:257300
Mckusick-Kaufman Syndrome	Syndactyly, Postaxial hand polydactyly, Congenital hip dislocation, Mesoaxial hand polydactyly	OMIM:236700
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha...	OMIM:200990
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair	OMIM:608233
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormal metacarpal morphology	ORPHA:284160
Hajdu-Cheney Syndrome	Hydrocephalus, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Genu valgum,...	OMIM:102500
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly	ORPHA:2166
Tarp Syndrome	Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy...	ORPHA:2886
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Short femoral neck, Clinodactyly, Short...	ORPHA:1708
Coccidioidomycosis	CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Abnormal long bone morphology, Abno...	ORPHA:228123
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th finger, Clinodactyly, Brach...	ORPHA:96182
Osteogenesis Imperfecta	Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Fractures of the long bone...	ORPHA:666
Fanconi Anemia, Complementation Group L	Absent radius, Hydrocephalus, Bilateral talipes equinovarus, Absent thumb	OMIM:614083
Neurooculorenal Syndrome	Short hallux, Aqueductal stenosis, Hydrocephalus, Talipes equinovarus, Short 1st metacarpal, Vent...	OMIM:620305
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum	OMIM:162200
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Olig...	ORPHA:69085
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Syndactyly, Lateral ventricle dilatation, Polydactyly	OMIM:619869
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Camptodactyly of finger, Tapered finger, Hydrocephalus, Camptodactyly of toe	ORPHA:261337
Hermansky-Pudlak Syndrome 10	Ocular albinism, Albinism	OMIM:617050
Holoprosencephaly	Encephalocele, Hydrocephalus, Spinal dysraphism, Hand polydactyly, Holoprosencephaly, Dandy-Walke...	ORPHA:2162
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Holoprosencephaly	ORPHA:2356
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Rapp-Hodgkin Syndrome	Syndactyly, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma	OMIM:129400
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, Hydroc...	OMIM:208150
7Q11.23 Microduplication Syndrome	Single transverse palmar crease, Long fingers, Hydrocephalus, Cubitus valgus, Ventriculomegaly	ORPHA:96121
Smith-Lemli-Opitz Syndrome	Finger syndactyly, Rhizomelia, Proximal placement of thumb, Postaxial hand polydactyly, Split han...	ORPHA:818
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Spina bifida, Short toe, Hip dislocation...	ORPHA:2308
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Hydrocephalus, Ventriculomegaly	OMIM:613150
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Hydrocephalus, Absent dis...	OMIM:610168
Hajdu-Cheney Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short toe, Hydroce...	ORPHA:955
Kabuki Syndrome	Hydrocephalus, Small hand, Hip dislocation, Short middle phalanx of finger, Short 5th finger, Ven...	ORPHA:2322
Wolf-Hirschhorn Syndrome	Pseudoepiphyses of the metacarpals, Single transverse palmar crease, Short hallux, Metatarsus add...	OMIM:194190
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Large hands, Arachnodactyly, Ventriculomegaly	OMIM:617011
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl...	ORPHA:167
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s...	ORPHA:177907
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98754
Lateral Meningocele Syndrome	Hydrocephalus, Meningocele	OMIM:130720
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Radioulnar synostosis	ORPHA:2461
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Spina bifida occulta, Camptodactyly of finger, Symphalangism affecting the pha...	ORPHA:2990
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98793
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:268300
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Ventriculomegaly	ORPHA:395
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177904
Whipple Disease	Hydrocephalus	ORPHA:3452
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ...	ORPHA:1896
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177901
Rubinstein-Taybi Syndrome 1	Syndactyly, Broad hallux phalanx, Broad hallux, Single transverse palmar crease, Spina bifida, Ra...	OMIM:180849
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ...	OMIM:192350
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature	ORPHA:1521
Vici Syndrome	Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism	OMIM:242840
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Ventriculomegaly, Subependymal nodules	ORPHA:25
Monosomy 22	Clinodactyly of the 5th finger, Finger syndactyly, Clubbing, Single transverse palmar crease	ORPHA:96123
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited elbow movement...	OMIM:261540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Dandy-Walker malformation, Ventricu...	OMIM:236670
Bloom Syndrome	Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly	OMIM:210900
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly	OMIM:313850
Loeys-Dietz Syndrome 1	Arachnodactyly, Hydrocephalus, Postaxial hand polydactyly, Talipes equinovarus, Camptodactyly	OMIM:609192
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd...	ORPHA:373
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Mucopolysaccharidosis Type 3	Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Genu valgum, Hip dysplasia, V...	ORPHA:581
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Abnormality of the upper limb, Short lower limbs	ORPHA:1556
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Anomaly of lower limb diaphyses, Arachnodactyly, Spina bifida, Hydrocephalus...	ORPHA:363958
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Myelomeningocele, Aplasia/Hypoplasia of the phala...	OMIM:219000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Hydrocephalus, Anencephal...	OMIM:615287
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ...	ORPHA:3107
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Broad toe, Postaxial polydactyly, Postaxial hand polydactyly, Hydrocephalus, 2-3 fing...	OMIM:312870
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat...	ORPHA:920
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of hallux, Anenceph...	OMIM:236680
Scalp-Ear-Nipple Syndrome	Finger syndactyly, 3-4 finger cutaneous syndactyly, 2-3 toe syndactyly, Lateral ventricle dilatat...	OMIM:181270
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me...	OMIM:610828
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Ventriculomegaly	ORPHA:228308
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Autosomal Recessive Malignant Osteopetrosis	Hydrocephalus, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Bowing of the long ...	ORPHA:667
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Syndactyly, Hip dysplasia, Ventriculomegaly	OMIM:616975
Linear Skin Defects With Multiple Congenital Anomalies 1	Hydrocephalus, Single transverse palmar crease, Colpocephaly	OMIM:309801
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Genu valgum, Cortical thickening of long bone diaphyses, Bilateral t...	ORPHA:309282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Deep palmar crease, Hydrocephalus	ORPHA:505248
Holoprosencephaly 9	Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly	OMIM:610829
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Abnormal hip bone morpho...	ORPHA:2907
Robinow Syndrome	Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna...	ORPHA:97360
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Postaxial hand polydactyly, Polydactyly, Mesomelia, Clinodactyly, Brachyd...	OMIM:613610
22Q11.2 Deletion Syndrome	Arachnodactyly, Spina bifida, Hydrocephalus, Meningocele, Occipital myelomeningocele, Hand polyda...	ORPHA:567
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Aqueductal stenosis, Myelomeningocele, Hydrocephalus, Short long bone...	OMIM:306955
Medulloblastoma	Hydrocephalus	ORPHA:616
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Hypoplastic ilia, Long fingers, Hydrocephalus, Slender long...	OMIM:264090
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Short toe, Hydrocephalus, Short foot, Clinodactyly of the...	ORPHA:709
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper...	OMIM:216340
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Short fourth metatarsal, Short fifth metatarsal, Single transverse p...	OMIM:619841
Dubowitz Syndrome	Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease	OMIM:223370
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo...	OMIM:619488
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Colpocephaly, Holoprosencephaly	OMIM:618820
Diaphragmatic Hernia 4, With Cardiovascular Defects	Clinodactyly of the 5th finger, Finger syndactyly, Talipes equinovarus, 2-3 toe syndactyly	OMIM:620025
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Single transverse palmar crease, Hydrocephalus, Genu valgum, Decreased CSF 5-methyltetrahydrofola...	OMIM:619475
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Cockayne Syndrome A	Hip contracture, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Normal pressur...	OMIM:216400
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Fontaine Progeroid Syndrome	Syndactyly, Hydrocephalus, Deep palmar crease, Absent distal phalanges, Short distal phalanx of f...	OMIM:612289
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Hydrocephalus, Deep palmar creas...	OMIM:218040
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Metatarsus adductus, Hydrocephalus, Short foot, Hip dysplasia, Lateral v...	OMIM:607872
Tetrasomy 9P	Hypoplastic scapulae, Hydrocephalus, Small hand, Small toe, Talipes equinovarus, Clinodactyly of ...	ORPHA:3310
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Arachnodactyly, Ventriculomegaly	ORPHA:457359
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Avascul...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Syndactyly, Abnormal lateral ventricle morphology, Broad hallux, Deviation of the hallux, Avascul...	ORPHA:353277
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Preaxial hand polydactyly, Postaxial hand...	ORPHA:2753
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Oeis Complex	Hydrocephalus, Myelomeningocele, Congenital hip dislocation, Talipes equinovarus	OMIM:258040
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma	ORPHA:1071
Split Cord Malformation	Cervical spina bifida, Hydrocephalus, Talipes cavus equinovarus, Lipomyelomeningocele, Myelomenin...	ORPHA:573278
Coffin-Siris Syndrome 12	Short thumb, Slender finger, Noncommunicating hydrocephalus, Cutaneous syndactyly, Radioulnar syn...	OMIM:619325
Tetraamelia Syndrome 1	Hydrocephalus, Hypoplastic pelvis	OMIM:273395
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Hydrocephalus, Ventriculomegaly	ORPHA:2072
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Neurofibromatosis Type 1	Hydrocephalus, Genu valgum, Slender long bone, Abnormal hip bone morphology, Genu varum	ORPHA:636
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Normal pressure hydrocephalus, ...	OMIM:133540
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Abnormal toe morphology, Abnormal finger morp...	ORPHA:79500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hydrocephalus, Genu valgum	OMIM:619321
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Palmoplantar keratoderma, Short 4th metacarpal, Short...	ORPHA:2908
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm...	OMIM:219800
Kabuki Syndrome 1	Congenital hip dislocation, Hydrocephalus, Hip dysplasia, Lateral ventricle dilatation, Short 5th...	OMIM:147920
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long fingers, Hy...	ORPHA:3455
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly	ORPHA:1519
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Hydrocephalus, Narrow iliac wing	ORPHA:3042
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Coxa valga, Avas...	OMIM:150230
Fraser Syndrome 2	Cutaneous syndactyly	OMIM:617666
Cryptococcosis	Hydrocephalus	ORPHA:1546
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Histiocytoid Cardiomyopathy	Hydrocephalus	ORPHA:137675
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Postaxial polydactyly, Aqueductal stenosis, Hydrocephalus, Broad first metatarsal, La...	OMIM:619534
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Large hands, Abnormal tibia morphology, Hydrocephalus, Genu valgum	ORPHA:363700
Alobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:93926
Lobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:93924
Semilobar Holoprosencephaly	Neural tube defect, Hydrocephalus, Hip dislocation	ORPHA:220386
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger	ORPHA:2136
Proteus Syndrome	Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Hip dislocation, Abnormal fing...	ORPHA:744
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Meningioma	Hydrocephalus	ORPHA:2495
Gaucher Disease	Hydrocephalus, Ventriculomegaly	ORPHA:355
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hip dysplasia	ORPHA:580
Fraser Syndrome	Encephalocele, Finger syndactyly, Toe syndactyly, Myelomeningocele, Wide pubic symphysis	ORPHA:2052
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Ventriculomegaly	OMIM:253280
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261537
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Long fingers, Toe clinodactyly, Sandal gap, Cutaneous syndactyly	OMIM:620330
Mowat-Wilson Syndrome	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Tapered finger, C...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, C...	ORPHA:261552
Tuberous Sclerosis Complex	Noncommunicating hydrocephalus, Subependymal nodules	ORPHA:805
Microphthalmia, Syndromic 1	Syndactyly, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicles, Radial devi...	OMIM:309800
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Craniofacial Microsomia 1	Occipital encephalocele, Partial duplication of thumb phalanx, Hydrocephalus, Genu valgum	OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hydrocephalus	OMIM:175780

Histopathology

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

There is no histopathology data for Adamts20

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 Adamts20.

No publications found that use IMPC mice or data for Adamts20.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Adamts20^{tm43986(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Adamts20^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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