Not currently registered for phenotyping at IMPC

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

Gene Summary

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20
bt,  ADAMTS-20

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Neurofibromatosis Type 6
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
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
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
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly 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
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
Book Syndrome
Premature graying of hair OMIM:112300
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
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 the skin, Iris hypopigmentation, Hypopigmentation of hair 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
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... ORPHA:3246
Cerebellar Ataxia And Albinism
Albinism OMIM:258300
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... ORPHA:241
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Piebal... ORPHA:2884
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe... OMIM:131960
Hyperkeratosis-Hyperpigmentation Syndrome
Multiple cafe-au-lait spots, Irregular hyperpigmentation ORPHA:1336
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus OMIM:166990
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... ORPHA:2019
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Hydrocephalus, Split foot, Spina bifida occulta, Split hand, Cutaneous finger s... OMIM:183802
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... ORPHA:189
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Summitt Syndrome
Syndactyly OMIM:272350
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Hypertrichosis Lanuginosa Congenita
Generalized hirsutism, Abnormality of skin pigmentation, Thick eyebrow ORPHA:2222
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Broad... ORPHA:380
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Alopecia, M... ORPHA:79397
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Hydrocephalus, Elbow ankylosis OMIM:148800
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Pili canaliculi OMIM:617252
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Ventriculomeg... OMIM:614120
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair OMIM:618808
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma ORPHA:2807
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... OMIM:246570
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Camptodactyly of finger, Synostosis of carpal bones, Triphalangea... ORPHA:957
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology ORPHA:294975
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Bullous Dystrophy, Hereditary Macular Type
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin OMIM:302000
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Freckling, Hyperpigmentation of the skin OMIM:194400
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... ORPHA:1113
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thum... ORPHA:1319
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... OMIM:611377
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Ventriculomegaly OMIM:611808
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split foot, Split hand, Cutaneous finger syndactyly, Toe syndactyly DECIPHER:46
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair OMIM:616760
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Bowing of the legs, Hydrocephalus, Trident hand, Flared metaphysis, Brachydactyly, Short femoral ... OMIM:100800
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis ORPHA:3268
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:256710
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... ORPHA:2885
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... OMIM:203200
Hydrocephalus, Increased CSF protein ORPHA:251912
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair ORPHA:2786
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot OMIM:183700
Masa Syndrome
Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb OMIM:303350
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, Hand polydactyly, F... OMIM:135750
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Short toe, Syndactyly, Brachydactyly, Congenital finger flexion contractures, Hand polydactyly OMIM:114150
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Isolated Split Hand-Split Foot Malformation
Split hand, Absent hand, Oligodactyly, Finger syndactyly ORPHA:2440
Hydrocephalus, Congenital, 3, With Brain Anomalies
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus ORPHA:2703
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Syndactyly, Joint contracture of the hand, Camptodactyly OMIM:225280
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Hydrocephalus, Aqueductal stenosis, Adducted thumb OMIM:307000
Uv-Sensitive Syndrome 1
Pigmentation anomalies of sun-exposed skin, Freckling OMIM:600630
Postaxial hand polydactyly, Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Aplasia Cutis Congenita
Spinal dysraphism, Finger syndactyly, Toe syndactyly ORPHA:1114
Fanconi Anemia, Complementation Group R
Hydrocephalus OMIM:617244
Urocanase Deficiency
Fair hair, Blue irides OMIM:276880
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Radial Aplasia, X-Linked
Hydrocephalus, Absent radius OMIM:312190
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Woolly Hair, Autosomal Dominant
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology OMIM:194300
Porphyria Cutanea Tarda, Type I
Hypertrichosis, Hyperpigmentation of the skin OMIM:176090
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Hydrocephalus, Absent radius, Preaxial hand polydactyly,... ORPHA:2378
Dandy-Walker Syndrome
Hydrocephalus, Dilated fourth ventricle OMIM:220200
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Joint contracture of the hand, Camptodactyly of toe, Broad hallux phalanx, 1-3 toe... OMIM:175700
Waardenburg Syndrome, Type 4A
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:277580
Gordon Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:376
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy ORPHA:46487
Band Heterotopia
Hydrocephalus, Ventriculomegaly OMIM:600348
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Aland Island Eye Disease
Albinism OMIM:300600
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Hydrocephalus With Associated Malformations
Lower limb undergrowth, Tibial bowing, Hydrocephalus, Short lower limbs OMIM:236640
Adams-Oliver Syndrome 3
Short distal phalanx of finger, 2-3 toe syndactyly, Absent toe, Short palm, Short metatarsal, Sho... OMIM:614814
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Hydrocephalus, Ventriculomegaly OMIM:618709
2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly, Curved distal phalanges of the hand ORPHA:3152
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Short distal phalanx of the thumb, Short toe, 3-4 finger cutaneou... ORPHA:370010
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Chudley-Mccullough Syndrome
Hydrocephalus, Ventriculomegaly OMIM:604213
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... ORPHA:2633
Mend Syndrome
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long finger... OMIM:300960
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... ORPHA:33445
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Genu valgum, Clinod... ORPHA:166024
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Brachydactyly, Clinodactyly OMIM:610023
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Pili torti, Brittle hair, Freckling, Fine hair, Melanocytic nevus ORPHA:1573
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... ORPHA:897
6P22 Microdeletion Syndrome
Hydrocephalus, Clinodactyly, Finger syndactyly ORPHA:251046
Hydrocephalus, Congenital Communicating, 1
Ventriculomegaly, Communicating hydrocephalus OMIM:618667
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Sparse hair, Alopecia, Onychogryposis of fingernail, Fingernail dysplasia, Ridged fingernail, Hyp... ORPHA:2251
Meckel Syndrome, Type 3
Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital enc... OMIM:607361
1Q21.1 Microduplication Syndrome
Hip dislocation, Hip dysplasia, Hydrocephalus, Talipes equinovarus ORPHA:250994
Brachydactyly, Type B1
Joint contracture of the hand, Syndactyly, Type B brachydactyly, Aplasia/Hypoplasia of the distal... OMIM:113000
Palmoplantar Keratoderma And Congenital Alopecia 1
Nail dysplasia, Leukonychia, Sparse hair, Brittle hair, Alopecia, Sparse eyebrow, Hyperpigmentati... OMIM:104100
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Anonychia, Abnormality of skin pigmentation, Nail dystrophy, Scarring alopecia ... ORPHA:79402
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Atypical Teratoid Rhabdoid Tumor
Hydrocephalus ORPHA:99966
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb ORPHA:2182
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Hydrocephalus, Absent thumb, Ventriculomegaly, Bowed forearm bones, Absent r... OMIM:602200
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Poliosis, Abnormal eyelash morphology, Vitiligo, ... ORPHA:3437
Jackson-Weiss Syndrome
2-3 toe syndactyly, Broad hallux, Broad metatarsal, Hallux varus, Short metatarsal, Calcaneonavic... OMIM:123150
Charlie M Syndrome
Brachydactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Finger syndactyly ORPHA:1406
Hypotrichosis 12
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... OMIM:615885
Methionine Malabsorption Syndrome
Blue irides, White hair OMIM:250900
Chromosome 17P13.1 Deletion Syndrome
Long hallux, Hydrocephalus, Broad hallux, Short foot, Elbow flexion contracture, Proximal placeme... OMIM:613776
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Pfeiffer Syndrome Type 1
Aqueductal stenosis, Broad hallux phalanx, Short hallux, Broad thumb, Hallux varus, Short foot, S... ORPHA:93258
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Abnormality of skin pigmentation, Anonychia, Nail dystrophy ORPHA:79411
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, A... ORPHA:1263
Griscelli Syndrome Type 1
Partial albinism, Premature graying of hair, Iris hypopigmentation, White hair ORPHA:79476
Idiopathic Trachyonychia
Nail pits, Toenail dysplasia, Patchy alopecia, Abnormality of the periungual region, Fragile nail... ORPHA:79153
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Adducted thumb ORPHA:275543
Terminal Osseous Dysplasia
Mesomelic leg shortening, Short toe, Toe clinodactyly, Camptodactyly of toe, Camptodactyly of fin... OMIM:300244
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Summitt Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Brachydactyly, Genu valgum, Short 4th me... ORPHA:3210
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Edinburgh Malformation Syndrome
Hydrocephalus OMIM:129850
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Hydrocephalus, Shoulder dislocation, Adducted thumb ORPHA:2181
Diencephalic Syndrome
Large hands, Hydrocephalus ORPHA:1672
Limb-Mammary Syndrome
Joint contracture of the hand, Split foot, Syndactyly, Camptodactyly, Hallux valgus, Split hand OMIM:603543
Cousin Syndrome
Dislocated radial head, Hydrocephalus, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 t... OMIM:260660
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Syndactyly, Polydactyly, Ventriculomegaly OMIM:602501
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Hydrocephalus ORPHA:1008
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:177910
Papilloma Of Choroid Plexus
Hydrocephalus, Choroid plexus papilloma OMIM:260500
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Ch... OMIM:617866
Aase-Smith Syndrome I
Hydrocephalus, Talipes equinovarus, Slender finger, Dandy-Walker malformation OMIM:147800
Developmental And Epileptic Encephalopathy 36
Small hand, Hydrocephalus OMIM:300884
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Epilepsy, Pyridoxine-Dependent
Hydrocephalus OMIM:266100
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:614072
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Hydrocephalus, Metaphyseal... OMIM:300863
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Absent thumb, Hypoplasia of the radius, Partial duplication... OMIM:142900
Metatropic Dysplasia
Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of finger, Mi... ORPHA:2635
Curry-Jones Syndrome
Abnormality of thumb phalanx, Finger syndactyly, Broad thumb, Ventriculomegaly, Foot polydactyly,... ORPHA:1553
Clouston Syndrome
Nail dysplasia, Sparse eyebrow, Alopecia, Brittle hair, Sparse eyelashes, Absent pubic hair, Alop... OMIM:129500
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, Hydrocephalus, Sandal gap OMIM:600991
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Syndactyly, Duplication of thumb phalanx, Broad thumb, Ventriculome... OMIM:601707
Retinohepatoendocrinologic Syndrome
Abnormality of skin pigmentation OMIM:268040
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:613154
Sabinas Brittle Hair Syndrome
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy OMIM:211390
Vacterl Association With Hydrocephalus
Radial club hand, Hydrocephalus, Aqueductal stenosis, Absent thumb OMIM:276950
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Hyperpigmentation of the skin OMIM:133750
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aqueductal stenosis, Hand oligodactyly, Arrh... ORPHA:1788
Czeizel-Losonci Syndrome
Myelomeningocele, Ectrodactyly, Hydrocephalus, Split foot, 2-3 finger syndactyly, Spina bifida oc... ORPHA:2437
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hydrocephalus, Elbow flexion contracture OMIM:619470
Darier Disease
Hypermelanotic macule, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, Abno... ORPHA:218
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Nail dysplasia, Sparse scalp hair, Abnormality of skin pigmentation, Sparse eyebrow OMIM:225050
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hydrocephalus, Cubitus valgus, Short 4th metacarpal ORPHA:2183
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Sparse body hair, Abnormality of skin pigmentation, Sparse hair, Abnormal fingernail morphology ORPHA:1810
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Hydrocephalus ORPHA:83473
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Clinodactyly of the 5th finger, Radial bowing, Limited pronation/supination of forearm, Proximal ... OMIM:605432
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair ORPHA:2221
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body hair OMIM:270750
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Iris... ORPHA:79434
Developmental And Epileptic Encephalopathy 49
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:617281
Pfeiffer Syndrome Type 2
Hydrocephalus, Aqueductal stenosis, Small hand, Broad hallux phalanx, Short hallux, Deviation of ... ORPHA:93259
Pfeiffer Syndrome
Hydrocephalus, Elbow ankylosis, Short middle phalanx of toe, Syndactyly, Broad hallux, Broad thum... OMIM:101600
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Hydrocephalus, Oligodactyly ORPHA:3016
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Proximal placement of thumb, Finger syndactyly ORPHA:1825
Frontal Encephalocele
Hydrocephalus, Spina bifida, Encephalocele ORPHA:1931
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus OMIM:300864
Hypomelanosis Of Ito
Hand polydactyly, Syndactyly, Clinodactyly, Radial deviation of finger OMIM:300337
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Overlapping toe, Syndactyly, Camptodactyly, Broad hallux, Clinoda... OMIM:300963
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Hydrocephalus, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypo... ORPHA:163966
Poland Syndrome
Syndactyly, Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle OMIM:173800
Neural Tube Defects, Susceptibility To
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Temple Syndrome
Small hand, Short foot, Hydrocephalus, Clinodactyly OMIM:616222
Mohr Syndrome
Metaphyseal irregularity, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hydroc... OMIM:252100
Epidermolysis Bullosa, Lethal Acantholytic
Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl... OMIM:609638
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:352731
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Pallister-Hall-Like Syndrome
Hydrocephalus, Micromelia, Postaxial hand polydactyly, Hip dislocation, Occipital encephalocele OMIM:241800
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Clinodactyly, Ulnar deviation of the wrist, Ventriculomegaly OMIM:618577
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventriculomegaly, Hand polydactyly, Foot polydactyly, Finger syndactyly, Toe synda... ORPHA:60040
Pelvis-Shoulder Dysplasia
Dislocated radial head, Hydrocephalus, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Cam... ORPHA:2839
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Hydrocephalus, Occipital encephalocele, Ventriculomegaly ORPHA:324416
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... OMIM:615986
Silver-Russell Syndrome 3
Syndactyly, Finger clinodactyly OMIM:616489
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly OMIM:601163
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus ORPHA:26
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Arachnodactyly, Brachydactyly, Syndactyly, Clinodactyly, Rudimenta... OMIM:600325
Muenke Syndrome
Carpal synostosis, Hydrocephalus, Cone-shaped epiphysis, Short foot, Tarsal synostosis, Short palm ORPHA:53271
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Red hair ORPHA:71526
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411515
Rubinstein-Taybi Syndrome 2
Broad hallux, Broad thumb, Syndactyly OMIM:613684
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Hypoplastic toenails, Freckling ORPHA:1547
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Monosomy 5P
Small hand, Finger syndactyly ORPHA:281
Ring Chromosome 21 Syndrome
Holoprosencephaly, Small hand, Syndactyly, Narrow palm, Clinodactyly ORPHA:1445
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydrocephalus, Short humerus, Hand polydactyly, Proximal placement of thumb, Absent radius OMIM:314390
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormal metaphysis morphology, Communicating hydrocephalus ORPHA:1861
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Holoprosencephaly, Micromelia, Anencephaly, Mesomelia, Spinal dysraphism, Meningoc... ORPHA:1908
Bowing of the legs, Hydrocephalus, Abnormal iliac wing morphology, Narrow greater sciatic notch, ... ORPHA:15
Dandy-Walker Malformation With Postaxial Polydactyly
Postaxial hand polydactyly, Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation OMIM:220220
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Mesomelia, Syndactyly OMIM:228940
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Clinodactyly OMIM:619091
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Advanced ossification of carpal bones, Hydrocephalus, Joint contracture of the hand, Narrow great... OMIM:224400
Intellectual Developmental Disorder, Autosomal Dominant 39
Hydrocephalus, Bilateral talipes equinovarus OMIM:616521
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Carpal bone aplasia, Syndactyly OMIM:609428
Ectodermal Dysplasia With Mental Retardation And Syndactyly
3-4 finger syndactyly, 2-3 toe syndactyly OMIM:600906
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventriculomegaly, Postaxial polydactyly OMIM:219730
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Clinodactyly of the 5th finger ORPHA:1516
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus, Brachydactyly, Postaxial hand ... OMIM:615630
Congenital Heart Defects And Ectodermal Dysplasia
Broad thumb, Syndactyly OMIM:617364
Pettigrew Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation OMIM:304340
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, A... ORPHA:79431
Edinburgh Malformation Syndrome
Hydrocephalus, Slender finger, Long fingers, Ulnar deviation of finger ORPHA:1895
Temple Syndrome
Small hand, Hydrocephalus, Clinodactyly of the 5th finger, Short foot ORPHA:254516
Thanatophoric Dysplasia
Hydrocephalus, Micromelia, Brachydactyly, Abnormal ilium morphology, Ventriculomegaly, Abnormal m... ORPHA:2655
Fried Syndrome
Hydrocephalus ORPHA:85335
Meckel Syndrome, Type 4
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, En... OMIM:611134
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Occipital encephalocele ORPHA:352682
Klippel-Trenaunay-Weber Syndrome
Hand polydactyly, Macrodactyly, Syndactyly, Hand oligodactyly OMIM:149000
Thanatophoric Dysplasia Type 2
Hydrocephalus, Holoprosencephaly, Brachydactyly, Micromelia, Ventriculomegaly, Abnormal metaphysi... ORPHA:93274
Acromelic Frontonasal Dysostosis
Talipes equinovarus, Preaxial polydactyly, Choroid plexus cyst, Syndactyly, Polydactyly, Ventricu... OMIM:603671
Ulnar deviation of the hand, Hydrocephalus, Postaxial polydactyly, Preaxial polydactyly, Holopros... OMIM:612651
Congenital Hydrocephalus
Hydrocephalus, Colpocephaly, Ventriculomegaly ORPHA:2185
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly, Neural tube defect OMIM:119580
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White... OMIM:203100
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Gómez-López-Hernández Syndrome
Hydrocephalus ORPHA:1532
Salt And Pepper Developmental Regression Syndrome
Abnormality of skin pigmentation, Hypermelanotic macule OMIM:609056
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hydrocephalus, Radioulnar synostosis, Bowing of the long bones, Short palm, Toe syndactyly ORPHA:171839
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Hydrocephalus, Postaxial polydactyly, Broad hallux, Ventriculomegaly... OMIM:616362
Papillary Tumor Of The Pineal Region
Hydrocephalus, Increased CSF protein ORPHA:251915
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Myelomeningocele, Hydrocephalus, Brachydactyly, Epiphyseal stippling ORPHA:1914
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Communicating hydrocephalus OMIM:273730
Holt-Oram Syndrome
Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Radioulnar synostosis, Aplasia/... ORPHA:392
Thanatophoric Dysplasia Type 1
Hydrocephalus, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, Brachydactyly, Short gr... ORPHA:1860
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Hand muscle weakness, Hydrocephalus, Abnormality of the hand, Paresis of extensor muscles of the ... ORPHA:99947
Otopalatodigital Syndrome, Type Ii
Hydrocephalus, Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Ru... OMIM:304120
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial hand polydactyly, 2-3 finger syndactyly, Broad hallux OMIM:217085
Griscelli Syndrome Type 2
Partial albinism, Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79477
Craniodigital-Intellectual Disability Syndrome
Spina bifida occulta, Finger syndactyly ORPHA:1514
Moebius Syndrome
Talipes equinovarus, Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Radial de... OMIM:157900
Eem Syndrome
Ectrodactyly, Finger syndactyly ORPHA:1897
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Si... OMIM:186500
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Palmar hyperkeratosis, 4-5 toe syndactyly, Cutaneous finger syndact... OMIM:613573
Alkuraya-Kucinskas Syndrome
Overlapping toe, Hydrocephalus, Talipes equinovarus, Adducted thumb, Cutaneous syndactyly, Overla... OMIM:617822
Adrenocortical Hypofunction, Chronic Primary Congenital
Hyperpigmentation of the skin OMIM:103230
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Alexander Disease
Hydrocephalus, Increased CSF protein OMIM:203450
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Weaver Syndrome
Talipes equinovarus, Camptodactyly of finger, Large hands, Broad thumb, Sandal gap, Abnormal meta... ORPHA:3447
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Limb undergrowth, Abnormal metacarpal morphology, Tarsal synosto... ORPHA:3429
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Cutaneous syndactyly, Br... OMIM:236500
Abcd Syndrome
Albinism, White eyelashes, White eyebrow OMIM:600501
Melanosis, Neurocutaneous
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Cranioectodermal Dysplasia
Short distal phalanx of finger, Clinodactyly of the 5th finger, Brachydactyly, Rhizomelia, Abnorm... ORPHA:1515
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele ORPHA:261102
Microphthalmia With Limb Anomalies
Hydrocephalus, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Short long bo... ORPHA:1106
Hydrocephalus, Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Ventr... ORPHA:59315
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Hydrocephalus, Abnormal metacarpal morphology, Genu valgum, Abnor... ORPHA:53
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Anterior encephalocele OMIM:614195
Cutis Laxa, Autosomal Recessive, Type Iie
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Genu varum, Hip di... OMIM:619451
Waardenburg Syndrome, Type 4C
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613266
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Hydrocephalus, Brachydactyly ORPHA:93262
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Fin... ORPHA:2994
Laurence-Moon Syndrome
Hand polydactyly, Bilateral single transverse palmar creases, Brachydactyly, Finger syndactyly ORPHA:2377
Cronkhite-Canada Syndrome
Hypoplastic toenails, Patchy alopecia, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyeb... ORPHA:2930
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines ORPHA:101003
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Hydrocephalus, Ventriculomegaly ORPHA:272
Intellectual Developmental Disorder, X-Linked 30
Hydrocephalus, Prominent fingertip pads OMIM:300558
Nasu-Hakola Disease
Hydrocephalus, Abnormal epiphysis morphology, Ventriculomegaly ORPHA:2770
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Generalized hirsutism, Abnormality of skin pigmentation, Hypo... ORPHA:626
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Short hallux, Abnormal metacarpal morphology, Ventriculomegaly, Finger syndactyly, Toe syndactyly ORPHA:3224
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Spondyloepimetaphyseal Dysplasia, Krakow Type
Metaphyseal irregularity, Hydrocephalus, 2-3 toe syndactyly, Irregular epiphyses, Brachydactyly, ... OMIM:618162
Isolated Osteopoikilosis
Abnormality of femur morphology, Abnormality of limb bone, Syndactyly, Abnormal pelvis bone ossif... ORPHA:166119
Waardenburg Syndrome, Type 3
Blue irides, Partial albinism, Synophrys, Heterochromia iridis, White forelock, Premature graying... OMIM:148820
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hydrocephalus, Dandy-Walker malformation, Congenital hip dislocat... ORPHA:1647
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Brachydactyly, Micromelia, Syndactyly, Single transverse palmar crease, Sandal gap OMIM:614800
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Abnormality of the elbow, Hydrocephalus, Brachydactyly ORPHA:2701
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Symphalangism affecting the phalanges... ORPHA:710
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus OMIM:304100
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hypoplasia of th... ORPHA:2256
Craniofrontonasal Dysplasia
Clinodactyly of the 5th finger, Broad hallux phalanx, Down-sloping shoulders, Camptodactyly of fi... ORPHA:1520
Acrofacial Dysostosis 1, Nager Type
Overlapping toe, Short toe, Hydrocephalus, Talipes equinovarus, Aqueductal stenosis, Absent thumb... OMIM:154400
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Syndactyly, Clinodactyly OMIM:619092
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Aicardi-Goutieres Syndrome 4
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly OMIM:610333
Long Qt Syndrome 8
Syndactyly OMIM:618447
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus OMIM:619302
Craniotelencephalic Dysplasia
Hydrocephalus, Frontal encephalocele, Arrhinencephaly ORPHA:1528
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Small abnormally formed scapulae, Hydrocephalus, Femoral bowing, Hypopl... OMIM:187600
Crane-Heise Syndrome
Short distal phalanx of finger, Talipes equinovarus, Aplastic clavicle, Hypoplastic scapulae, Ven... ORPHA:1512
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Lelis Syndrome
Yellow nails, Sparse hair, Vitiligo, Perioral hyperpigmentation, Abnormal toenail morphology, Nai... ORPHA:140936
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hip dislocation, Hydrocephalus, Coxa valga, Ventriculomegaly OMIM:109120
Adams-Oliver Syndrome 6
Brachydactyly, Syndactyly, Foot oligodactyly OMIM:616589
Multiple cafe-au-lait spots, Hypopigmentation of hair, Premature graying of hair ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus OMIM:300886
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair OMIM:618541
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, Hydrocephalus, Sandal gap ORPHA:2180
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
White Forelock With Malformations
Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Hydrocephalus, Normal-Pressure, 1
Normal pressure hydrocephalus OMIM:236690
Filippi Syndrome
Single transverse palmar crease, Cutaneous syndactyly, Finger clinodactyly, 2-4 toe syndactyly OMIM:272440
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation OMIM:225790
Adams-Oliver Syndrome
Short distal phalanx of finger, Absent hand, Hydrocephalus, Brachydactyly, Abnormality of the upp... ORPHA:974
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Dandy-Walker malformation, Postaxial polydactyly OMIM:614424
Gorlin Syndrome
Arachnodactyly, Palmar pits, Hydrocephalus, Brachydactyly ORPHA:377
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Abnormality of skin pigmentation ORPHA:79358
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Hydrocephalus OMIM:269920
Hermansky-Pudlak Syndrome 11
Ocular albinism, Fair hair, Albinism, Iris transillumination defect, Melanocytic nevus OMIM:619172
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly ORPHA:261272
Craniosynostosis, Herrmann-Opitz Type
Split hand, Brachydactyly, Micromelia, Finger syndactyly ORPHA:2145
Tessadori-Van Haaften Neurodevelopmental Syndrome 4
Hydrocephalus, 2-3 toe syndactyly, 3-4 finger cutaneous syndactyly, Camptodactyly of finger, Sing... OMIM:619951
Hermansky-Pudlak Syndrome 7
Albinism, Ocular albinism OMIM:614076
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly ORPHA:1338
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Gracile Bone Dysplasia
Flared metaphysis, Hydrocephalus, Brachydactyly, Slender long bone OMIM:602361
Mental Retardation, Buenos Aires Type
Hydrocephalus, Clinodactyly of the 5th finger OMIM:249630
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Camptodactyly OMIM:616006
Dyssegmental Dysplasia, Silverman-Handmaker Type
Bowing of the legs, Hydrocephalus, Talipes equinovarus, Hypoplastic ilia, Micromelia, Hypoplastic... ORPHA:1865
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus OMIM:600559
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Syndactyly, Dandy-Walker malformation OMIM:220210
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation ORPHA:745
Cenani-Lenz Syndrome
Finger syndactyly, Hypoplasia of the radius, Micromelia, Synostosis of carpal bones, Short thumb,... ORPHA:3258
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Brachydactyly, Micromelia, Syn... OMIM:617895
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus OMIM:618302
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Sparse hair, Nail dystrophy, Alopecia OMIM:616353
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Classic Phenylketonuria
Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:79254
Lissencephaly 5
Hydrocephalus, Occipital encephalocele OMIM:615191
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... OMIM:615503
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Myopathy, Centronuclear, X-Linked
Arachnodactyly, Slender toe, Hydrocephalus, Dandy-Walker malformation OMIM:310400
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Micromelia, Polydactyly, Brachydactyly, Sy... OMIM:614091