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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 (1027 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
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
Syndactyly Type 1	2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ...	ORPHA:93402
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 Iii	Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4...	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	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Polydactyly, Preaxial Ii	Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo...	OMIM:174500
Triphalangeal Thumb With Polysyndactyly	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po...	OMIM:190605
Craniofacial Conodysplasia	Hydrocephalus, Cone-shaped epiphyses of the phalanges of the hand	ORPHA:85168
Synpolydactyly 1	Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial...	OMIM:186000
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Syndactyly Type 2	Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t...	ORPHA:93403
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Ventriculomegaly, Syndactyly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615938
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Syndactyly Type 3	Short toe, Finger syndactyly, Camptodactyly of finger	ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33	Short toe, Syndactyly	OMIM:614341
Polydactyly, Postaxial, Type A5	Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly	OMIM:263450
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Syndactyly, Type Iv	Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy...	OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin...	ORPHA:1891
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Deafness, Congenital, With Total Albinism	Albinism	OMIM:220900
Acropectoral Syndrome	Finger syndactyly, Preaxial hand polydactyly	ORPHA:85203
Polydactyly, Preaxial Iv	Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb...	OMIM:174700
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
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
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Syndactyly Type 5	Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda...	ORPHA:93406
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Brachydactyly, Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ...	OMIM:112600
Symphalangism With Multiple Anomalies Of Hands And Feet	Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda...	ORPHA:3246
Spinal Muscular Atrophy With Impaired Intellectual Development	Syndactyly	OMIM:271109
Chromosome 2Q35 Duplication Syndrome	2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly	OMIM:185900
Wahab Syndrome	Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal...	OMIM:615170
Liebenberg Syndrome	Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin...	OMIM:186550
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly	OMIM:607539
Hydrocephalus, Congenital, 1	Ventriculomegaly, Hydrocephalus	OMIM:236600
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia	ORPHA:71289
Brachydactyly Type A7	Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas...	ORPHA:93397
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd...	ORPHA:1892
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair	OMIM:190200
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited...	ORPHA:3269
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym...	OMIM:609432
Split-Hand/Foot Malformation 4	Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m...	OMIM:605289
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of...	ORPHA:157801
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Chromosome 2Q31.1 Duplication Syndrome	Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly	OMIM:613681
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	White forelock, Macular hyperpigmented dermopathy	ORPHA:2779
Split-Hand/Foot Malformation 2	Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot	OMIM:313350
Polydactyly, Postaxial, Type A1	Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han...	OMIM:174200
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Syndactyly, Type V	Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact...	OMIM:186300
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Metacarpal 4-5 Fusion	2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa...	OMIM:309630
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Ventriculomegaly, Hydrocephalus, Postaxial hand polydactyly	OMIM:615937
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Heart-Hand Syndrome, Slovenian Type	Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Abnormality of skin pigmentation	OMIM:300719
Syndactyly-Polydactyly-Earlobe Syndrome	Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple...	OMIM:186350
Biemond Syndrome Ii	Hydrocephalus, Preaxial hand polydactyly	OMIM:210350
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin...	ORPHA:93409
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t...	ORPHA:488232
Brachydactyly Type B	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty...	ORPHA:93383
Acropectorovertebral Dysplasia	Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Spina bi...	OMIM:102510
Brachydactyly Type B2	Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ...	ORPHA:140908
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot	OMIM:616890
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly	OMIM:600384
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly	ORPHA:2935
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy...	OMIM:131960
Hyperkeratosis-Hyperpigmentation Syndrome	Irregular hyperpigmentation, Multiple cafe-au-lait spots	ORPHA:1336
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Rhizomelia, Hydrocephalus	OMIM:166990
Albinism, Oculocutaneous, Type V	Albinism	OMIM:615312
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613265
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Multiple Synostoses Syndrome 3	Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,...	OMIM:612961
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Intellectual Developmental Disorder, Autosomal Dominant 4	Short toe, Syndactyly	OMIM:612581
Polydactyly, Postaxial, Type A7	Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous...	OMIM:617642
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation	OMIM:123155
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Greig Cephalopolysyndactyly Syndrome	Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac...	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	Mottled pigmentation, Alopecia, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation	ORPHA:2222
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Bardet-Biedl Syndrome 5	Syndactyly, Brachydactyly, Polydactyly	OMIM:615983
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Kleeblattschaedel	Elbow ankylosis, Hydrocephalus	OMIM:148800
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Fair hair	OMIM:618808
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail	OMIM:302000
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly	ORPHA:294975
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Camptobrachydactyly	Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy...	ORPHA:1319
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo...	ORPHA:895
Proximal Symphalangism	Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact...	ORPHA:3250
Acropectorovertebral Dysplasia	Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt...	ORPHA:957
Hydrolethalus Syndrome 2	Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial...	OMIM:614120
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Albinism, Giant melanosomes in melanocytes	OMIM:300650
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ...	OMIM:225280
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Brachydactyly, Type B2	Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor...	OMIM:611377
Aphalangy-Syndactyly-Microcephaly Syndrome	Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing...	ORPHA:1113
Woolly Hair, Autosomal Recessive 3	Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair	OMIM:616760
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot	DECIPHER:46
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Synpolydactyly 2	Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow	ORPHA:3268
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Pineocytoma	Increased CSF protein concentration, Hydrocephalus	ORPHA:251912
Beemer Lethal Malformation Syndrome	Hydrocephalus	OMIM:209970
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Uncombable Hair Syndrome 3	Pili canaliculi, Brittle hair, Uncombable hair, Curly hair	OMIM:617252
Obesity And Hypopigmentation	Red hair	OMIM:620195
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup...	OMIM:135750
Masa Syndrome	Hydrocephalus, Talipes equinovarus, Ventriculomegaly, Adducted thumb	OMIM:303350
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Split hand, Split foot	OMIM:183700
Hydrocephalus, Congenital, X-Linked	Hydrocephalus, Aqueductal stenosis, Adducted thumb, Thumb contracture	OMIM:307000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Camptobrachydactyly	Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly	OMIM:114150
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Premature graying of hair	ORPHA:66633
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
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	Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Uncombable Hair Syndrome 1	Dry hair, Pili canaliculi, Uncombable hair	OMIM:191480
Acalvaria	Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly	ORPHA:945
Radial Aplasia, X-Linked	Hydrocephalus, Absent radius	OMIM:312190
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:277580
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Alopecia Totalis	Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Nail pits, Trachyonychia, Fragile nails	ORPHA:700
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Hyperpigmentation of the skin, Nail dystrophy	ORPHA:46487
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Hypoplastic ilia, Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossificati...	OMIM:613330
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro...	OMIM:175700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Ventriculomegaly, Hydrocephalus	OMIM:618709
Porphyria Cutanea Tarda, Type I	Hyperpigmentation of the skin, Hypertrichosis	OMIM:176090
Biemond Syndrome Type 2	Hydrocephalus, Preaxial polydactyly	ORPHA:141333
Uv-Sensitive Syndrome 3	Freckling	OMIM:614640
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar...	ORPHA:370010
Adams-Oliver Syndrome 3	Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ...	OMIM:614814
Sclerosteosis	Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy...	ORPHA:3152
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Chudley-Mccullough Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:604213
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ...	ORPHA:166024
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Brachydactyly, Clinodactyly, Syndactyly	OMIM:610023
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Pfeiffer Syndrome Type 1	Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh...	ORPHA:93258
1Q21.1 Microduplication Syndrome	Hydrocephalus, Talipes equinovarus, Hip dislocation, Hip dysplasia	ORPHA:250994
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Melanocytic nevus, Pili torti, Freckling, Brittle hair, Sparse scalp hair	ORPHA:1573
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Dandy-Walker malformation	OMIM:607091
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	ORPHA:2251
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Hydrocephalus, Congenital, 4	Ventriculomegaly, Communicating hydrocephalus	OMIM:618667
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Anonychia, Abnormality of skin pigm...	ORPHA:79402
Mesomelic Dysplasia, Nievergelt Type	Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ...	ORPHA:2633
6P22 Microdeletion Syndrome	Hydrocephalus, Finger syndactyly, Clinodactyly	ORPHA:251046
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Holoprosencephaly, Adducted thumb	ORPHA:2182
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p...	OMIM:607361
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Absent thumb, Lateral ventricle dilatation, Bowed forearm bones, Hydrocephalus,...	OMIM:602200
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Bardet-Biedl Syndrome 4	Syndactyly, Brachydactyly, Polydactyly	OMIM:615982
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh...	OMIM:113000
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty...	ORPHA:65759
Methionine Malabsorption Syndrome	Blue irides, White hair	OMIM:250900
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus	ORPHA:99966
Self-Improving Dystrophic Epidermolysis Bullosa	Anonychia, Nail dystrophy, Abnormality of skin pigmentation, Abnormality of the subungual region	ORPHA:79411
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydranencephaly, Hydrocephalus, Holoprosencephaly, Dandy-Walker malformation	OMIM:617967
Griscelli Syndrome Type 1	Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair	ORPHA:79476
Idiopathic Trachyonychia	Toenail dysplasia, Fingernail dysplasia, Vitiligo, Ridged nail, Nail dystrophy, Patchy alopecia, ...	ORPHA:79153
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Hydrocephalus	OMIM:236660
Charlie M Syndrome	Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly	ORPHA:1406
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Hypopigmentation of the skin	ORPHA:2513
L1 Syndrome	Hydrocephalus, Aqueductal stenosis, Adducted thumb	ORPHA:275543
Jackson-Weiss Syndrome	Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first metatarsal, Hallux varus, B...	OMIM:123150
Hypotrichosis-Intellectual Disability, Lopes Type	1-5 finger complete cutaneous syndactyly	ORPHA:2266
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli...	ORPHA:3210
Terminal Osseous Dysplasia	Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam...	OMIM:300244
Edinburgh Malformation Syndrome	Hydrocephalus	OMIM:129850
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Hydrocephalus, Adducted thumb, Shoulder dislocation	ORPHA:2181
Nevus Comedonicus Syndrome	Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta	ORPHA:64754
Limb-Mammary Syndrome	Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly	OMIM:603543
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Developmental And Epileptic Encephalopathy 36	Small hand, Hydrocephalus	OMIM:300884
Aplasia Cutis Congenita	Toe syndactyly, Finger syndactyly, Spinal dysraphism	ORPHA:1114
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	Hydrocephalus	OMIM:266100
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Diencephalic Syndrome	Hydrocephalus, Large hands	ORPHA:1672
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:1008
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Ventriculomegaly, Hydrocephalus, Syndactyly	OMIM:602501
Curry-Jones Syndrome	Ventriculomegaly, Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abno...	ORPHA:1553
Aase-Smith Syndrome I	Slender finger, Talipes equinovarus, Hydrocephalus, Dandy-Walker malformation	OMIM:147800
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transvers...	OMIM:617866
Clouston Syndrome	Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Sparse eyelash...	OMIM:129500
Grange Syndrome	Short palm, Syndactyly	ORPHA:79094
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Abnormality of skin pigmentation, H...	ORPHA:218
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Ventriculomegaly, Hydrocephalus	OMIM:614830
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Hydrocephalus	OMIM:619470
Corpus Callosum, Partial Agenesis Of, X-Linked	Ventriculomegaly, Dislocated radial head, Hydrocephalus	OMIM:304100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ...	OMIM:300863
Neuralgic Amyotrophy	Upper limb amyotrophy, Scapular winging, Syndactyly	ORPHA:2901
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Night Blindness, Congenital Stationary, Type 1C	Abnormality of skin pigmentation	OMIM:613216
Pfeiffer Syndrome	Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin...	OMIM:101600
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ...	ORPHA:1788
Vacterl Association With Hydrocephalus	Radial club hand, Aqueductal stenosis, Absent thumb, Hydrocephalus	OMIM:276950
Sabinas Brittle Hair Syndrome	Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair	OMIM:211390
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Nail dysplasia, Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation	OMIM:225050
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Single transverse palmar...	ORPHA:2437
Metatropic Dysplasia	Coarse metaphyseal trabecularization, Micromelia, Camptodactyly of finger, Halberd-shaped pelvis,...	ORPHA:2635
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Postaxial hand polydactyly	ORPHA:83473
Pallister-Hall-Like Syndrome	Toe syndactyly, Postaxial foot polydactyly, Micromelia, Occipital encephalocele, Hydrocephalus, P...	OMIM:241800
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short 4th metacarpal, Cubitus valgus, Hydrocephalus	ORPHA:2183
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus	OMIM:258320
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik...	OMIM:605282
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,...	ORPHA:93259
Acquired Hypertrichosis Lanuginosa	Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair	ORPHA:2221
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormal fingernail morphology, Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Spastic Paraplegia 23, Autosomal Recessive	Multiple lentigines, Vitiligo, Hyperpigmentation in sun-exposed areas, Premature graying of body ...	OMIM:270750
Epidermolysis Bullosa, Lethal Acantholytic	Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ...	OMIM:609638
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hydrocephalus, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb	ORPHA:1825
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol...	ORPHA:88630
Hypomelanosis Of Ito	Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly	OMIM:300337
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Hydrocephalus, Ventriculomegaly, Clinodactyly	OMIM:618577
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ...	OMIM:217085
Poland Syndrome	Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly	OMIM:173800
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplastic iliac w...	ORPHA:163966
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus...	ORPHA:93323
Ectodermal Dysplasia-Syndactyly Syndrome 2	Palmoplantar keratoderma, Syndactyly	OMIM:613576
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty...	OMIM:252100
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Achondroplasia	Rhizomelia, Hip joint hypermobility, Limited elbow extension, Trident hand, Narrow greater sciati...	ORPHA:15
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi...	ORPHA:2839
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol...	OMIM:615986
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
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Joint contracture of the hand, Micromelia, Broad long bones, Encephalocele, Bowing of the long bo...	OMIM:224400
Monosomy 5P	Small hand, Finger syndactyly	ORPHA:281
Aminopterin Syndrome Sine Aminopterin	Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Brachydactyly, Rudiment...	OMIM:600325
Schizophrenia 1	Short proximal phalanx of the 4th toe, Syndactyly	OMIM:181510
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Hypoplastic toenails, Freckling	ORPHA:1547
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly	OMIM:601163
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus	ORPHA:26
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Hand polydactyly, Hydrocephalus, Foot polyda...	ORPHA:60040
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ventriculomegaly, Occipital encephalocele, Hydrocephalus	ORPHA:324416
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Micromelia, Finger syndactyly, Encephalocele, Aplasia/Hypoplasia of the thumb,...	ORPHA:1908
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411515
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Clinodactyly, Syndactyly	OMIM:619091
Ring Chromosome 21 Syndrome	Small hand, Clinodactyly, Narrow palm, Holoprosencephaly, Syndactyly	ORPHA:1445
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Intellectual Developmental Disorder, Autosomal Dominant 39	Bilateral talipes equinovarus, Hydrocephalus	OMIM:616521
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Genu valgum, Hydrocephalus	OMIM:248000
Muenke Syndrome	Cone-shaped epiphysis, Carpal synostosis, Hydrocephalus, Tarsal synostosis, Short foot, Short palm	ORPHA:53271
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	2-3 toe syndactyly, 3-4 finger syndactyly	OMIM:600906
Tukel Syndrome	Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly	OMIM:609428
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Limb undergrowth, Abnormal metaphysis morphology	ORPHA:1861
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Myelomeningocele, Epiphyseal stippling, Brachydactyly, Hydrocephalus	ORPHA:1914
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Meningocele, ...	OMIM:611134
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventriculomegaly, Genu valgum, Brachydactyly, Short long bone, Postaxial hand polydactyly, Hydroc...	OMIM:615630
Joubert Syndrome 33	Syndactyly	OMIM:617767
Fried Syndrome	Hydrocephalus	ORPHA:85335
Temple Syndrome	Clinodactyly of the 5th finger, Small hand, Short foot, Hydrocephalus	ORPHA:254516
Edinburgh Malformation Syndrome	Slender finger, Ulnar deviation of finger, Hydrocephalus, Long fingers	ORPHA:1895
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Clinodactyly of the 5th finger, Hydrocephalus	ORPHA:1516
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Short finger	OMIM:300049
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Postaxial hand polydactyly	OMIM:220220
Moebius Syndrome	Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,...	OMIM:157900
Cousin Syndrome	Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis...	OMIM:260660
Gómez-López-Hernández Syndrome	Hydrocephalus	ORPHA:1532
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus	ORPHA:352682
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Micromelia, Encephalocele, Brachydactyly, Hydrocephalus, Holoprosencephaly, Abn...	ORPHA:93274
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Houge-Janssens Syndrome 2	Ventriculomegaly, Broad hallux, Deviation of the 5th finger, Postaxial polydactyly, Hydrocephalus...	OMIM:616362
Congenital Hydrocephalus	Ventriculomegaly, Colpocephaly, Hydrocephalus	ORPHA:2185
Alopecia Universalis	Alopecia universalis, Vitiligo, Absent eyelashes, Patchy alopecia, Absent eyebrow, Abnormality of...	ORPHA:701
Thanatophoric Dysplasia	Abnormal ilium morphology, Ventriculomegaly, Micromelia, Abnormal sacroiliac joint morphology, Br...	ORPHA:2655
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand muscle weakness, Triceps weakness, Abnormality of the hand, Hydrocephalus, Paresis of extens...	ORPHA:99947
Papillary Tumor Of The Pineal Region	Increased CSF protein concentration, Hydrocephalus	ORPHA:251915
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou...	ORPHA:392
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Hydrocephalus	OMIM:618174
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Ventriculomegaly, Micromelia, Femoral bowing, Bowing of the long bones, Abnorma...	ORPHA:1860
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Toe syndactyly, Bowing of the long bones, Radioulnar synostosis, Hydrocephalus, Short palm	ORPHA:171839
Microphthalmia With Limb Anomalies	Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc...	ORPHA:1106
Joubert Syndrome 17	Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule	OMIM:618373
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus	OMIM:619301
Craniodigital-Intellectual Disability Syndrome	Spina bifida occulta, Finger syndactyly	ORPHA:1514
Weaver Syndrome	Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h...	ORPHA:3447
Klippel-Trenaunay-Weber Syndrome	Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly	OMIM:149000
Abcd Syndrome	Albinism, White eyebrow, White eyelashes	OMIM:600501
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact...	OMIM:613573
Deafness, Congenital, With Vitiligo And Achalasia	Vitiligo	OMIM:221350
Cutis Laxa, Autosomal Recessive, Type Iie	Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S...	OMIM:619451
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra...	ORPHA:1515
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me...	ORPHA:3429
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus	OMIM:619302
Rhombencephalosynapsis	Ventriculomegaly, Finger syndactyly, Polydactyly, Hydrocephalus, Short phalanx of finger, Complet...	ORPHA:59315
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit...	OMIM:613266
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Vitiligo, Multiple lentigines	ORPHA:101003
Cronkhite-Canada Syndrome	Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper...	ORPHA:2930
Alkuraya-Kucinskas Syndrome	Hand clenching, Ventriculomegaly, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equ...	OMIM:617822
Laurence-Moon Syndrome	Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases	ORPHA:2377
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Triph...	ORPHA:2994
Carney Complex, Type 1	Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Alexander Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:203450
Albers-Schönberg Osteopetrosis	Short distal phalanx of finger, Abnormal epiphysis morphology, Genu valgum, Abnormal metacarpal m...	ORPHA:53
Nasu-Hakola Disease	Ventriculomegaly, Abnormal epiphysis morphology, Hydrocephalus	ORPHA:2770
Bardet-Biedl Syndrome 6	Postaxial polydactyly, Syndactyly	OMIM:605231
Lelis Syndrome	Yellow nails, Sparse lateral eyebrow, Vitiligo, Perioral hyperpigmentation, Nail dystrophy, Abnor...	ORPHA:140936
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Abnormal metacarpal morphology, Brachydactyly	ORPHA:93262
Rubinstein-Taybi Syndrome 2	Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda...	OMIM:613684
Pfeiffer Syndrome	Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda...	ORPHA:710
Congenital Muscular Dystrophy, Fukuyama Type	Ventriculomegaly, Hydrocephalus, Camptodactyly of finger	ORPHA:272
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Abnormal metacarpal morphology, Short hallux	ORPHA:3224
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru...	ORPHA:3320
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Craniofrontonasal Dysplasia	Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hand polydactyly,...	ORPHA:1520
Hoxha-Aliu Syndrome	Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ...	OMIM:620662
Endocrine-Cerebroosteodysplasia	Ventriculomegaly, Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Si...	OMIM:612651
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Brachydactyly, Abnormality of the elbow	ORPHA:2701
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Dyskeratosis Congenita, Autosomal Recessive 3	Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Ventriculomegaly, Finger syndactyly, ...	ORPHA:1647
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Arachnodactyly, Clinodactyly, Syndactyly	OMIM:619092
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Congenital bilateral hip dislocation, Syndactyly	ORPHA:404451
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Metacarpal...	OMIM:212780
Craniotelencephalic Dysplasia	Hydrocephalus, Frontal encephalocele	ORPHA:1528
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Ventriculomegaly, Hydrocephalus	OMIM:219730
Polysyndactyly With Cardiac Malformation	Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly	OMIM:263630
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti...	OMIM:187600
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus	OMIM:612247
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Sandal gap, Camptodactyly of finger, Single transverse palmar crease, 2-3 toe syndactyly, Hallux ...	OMIM:619951
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Crane-Heise Syndrome	Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s...	ORPHA:1512
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal...	ORPHA:166119
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Prominent fingertip pads	OMIM:300558
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l...	ORPHA:2256
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Aicardi-Goutieres Syndrome 4	CSF lymphocytic pleiocytosis, Ventriculomegaly, Hydrocephalus	OMIM:610333
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Multiple cafe-a...	ORPHA:3214
Blepharocheilodontic Syndrome 1	Cutaneous syndactyly, Clinodactyly, Neural tube defect	OMIM:119580
Adams-Oliver Syndrome 6	Foot oligodactyly, Brachydactyly, Syndactyly	OMIM:616589
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly	OMIM:615284
Achondroplasia	Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Limited elbow extension, Trident ha...	OMIM:100800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Talipes equinovarus, Cutane...	OMIM:236500
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus	OMIM:236690
Tetrasomy 15Q26	Arachnodactyly, Camptodactyly, Hydrocephalus, Dandy-Walker malformation	OMIM:614846
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Irregular epiphyses, Delayed pubic bone ossification, 2-3 toe syndactyly, Brachydacty...	OMIM:618162
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	OMIM:260500
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Absent distal phalanges, Single transverse palmar crease, Hydroceph...	OMIM:614219
Hermansky-Pudlak Syndrome 1	Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ...	OMIM:203300
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino...	OMIM:620663
White Forelock With Malformations	Spina bifida occulta, Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Infantile Sialic Acid Storage Disease	Metaphyseal irregularity, Hydrocephalus	OMIM:269920
Filippi Syndrome	2-4 toe syndactyly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	OMIM:272440
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Hip dislocation, Coxa valga	OMIM:109120
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus	OMIM:300886
Temple Syndrome	Hydrocephalus, Small hand, Short foot, Clinodactyly	OMIM:616222
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect	OMIM:619172
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Hydrocephalus, Sandal gap, Brachydactyly	ORPHA:2180
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hypoplastic ilia, Micromelia, Broad long bones, Clubbing of fingers, Encephalocele, Talipes equin...	ORPHA:1865
17Q12 Microduplication Syndrome	Toe syndactyly, Finger syndactyly	ORPHA:261272
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Adams-Oliver Syndrome	Short distal phalanx of finger, Finger syndactyly, Absent hand, Encephalocele, Abnormal metacarpa...	ORPHA:974
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Sparse hair, Nail dystrophy, Abnormality of skin pigmentation	OMIM:616353
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Increased CSF lactate, Increased CSF lysine concentration, Colpocephaly, Hydroc...	OMIM:616034
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus	OMIM:600559
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormality of skin pigmentation	ORPHA:745
Cenani-Lenz Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol...	ORPHA:3258
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Brachydactyly, Split hand, Finger syndactyly	ORPHA:2145
Gracile Bone Dysplasia	Hydrocephalus, Slender long bone, Brachydactyly, Flared metaphysis	OMIM:602361
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn...	OMIM:617895
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho...	OMIM:615503
Fanconi Anemia, Complementation Group R	Absent thumb, Hydrocephalus, Radial dysplasia	OMIM:617244
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus	OMIM:618302
Lissencephaly 5	Occipital encephalocele, Hydrocephalus	OMIM:615191
Ritscher-Schinzel Syndrome 1	Hydrocephalus, Dandy-Walker malformation, Syndactyly	OMIM:220210
Pfeiffer Syndrome Type 3	Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Aqueducta...	ORPHA:93260
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly...	OMIM:600987
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long...	OMIM:614091
Congenital Toxoplasmosis	Ventriculomegaly, Hydrocephalus	ORPHA:858
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Camptodactyly, Syndactyly	OMIM:616006
Methylcobalamin Deficiency Type Cble	Hydrocephalus, Ventriculomegaly, Clinodactyly, Syndactyly	ORPHA:2169
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Ventriculomegaly, Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Bra...	OMIM:614701
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Slender toe, Hydrocephalus, Dandy-Walker malformation	OMIM:310400
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair	ORPHA:70472
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Hydrocephalus	ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Hydrocephalus	OMIM:615599
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Single transvers...	OMIM:615777
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Narrow pelvis bone, Femoral bowing, Humeroradial synostosis, Ulnar bowing, Arachnodactyly, Hydroc...	OMIM:207410
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:251270
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Ventriculomegaly, Colpocephaly, Brachydactyly	OMIM:620156
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Ventriculomegaly, Hydrocephalus	OMIM:603387
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Acetabular dysplasia, Colpocephaly, Hydrocephalus, Hip dysplasia, Hammertoe, Co...	OMIM:619833
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly	OMIM:619736
Adult Syndrome	Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Melanocytic nevus, Fing...	ORPHA:978
Acrofrontofacionasal Dysostosis 2	Hand polydactyly, Broad thumb, Broad hallux, Syndactyly	OMIM:239710
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Triploidy	Hydrocephalus, Meningocele, Holoprosencephaly, Finger syndactyly	ORPHA:3376
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Abnorma...	ORPHA:2980
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98795
Multiple Sulfatase Deficiency	Increased CSF protein concentration, Ventriculomegaly, Broad thumb, Broad hallux, Hydrocephalus	OMIM:272200
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Premature graying of hair, Generalized hyperpigmentation, N...	ORPHA:3322
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd...	ORPHA:1112
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Trisomy 1Q	Ventriculomegaly, Toe syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodact...	ORPHA:261344
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty...	ORPHA:90652
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Absent thumb, Clinodactyly, Short toe, Radial deviation of finger, Foot oligodact...	OMIM:154400
Houge-Janssens Syndrome 1	Congenital hip dislocation, Ventriculomegaly, Hydrocephalus	OMIM:616355
Curry-Jones Syndrome	Ventriculomegaly, Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polyd...	OMIM:601707
Silver-Russell Syndrome 1	Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle phalanx of t...	OMIM:180860
ERI1-related disease	Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow extension, Taper...	OMIM:608739
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar crease, Broad pa...	ORPHA:915
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Hand polydactyly, Hydrocephalus, Absent radius, Proximal placement of thumb	OMIM:314390
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Congenital hip dislocation, Cubitus valgus, Syndactyly	OMIM:104350
Apert Syndrome	Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca...	OMIM:101200
20P13 Microdeletion Syndrome	Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly	ORPHA:313781
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Meckel Syndrome, Type 6	Postaxial foot polydactyly, Occipital encephalocele, Talipes equinovarus, Hydrocephalus, Postaxia...	OMIM:612284
2Q31.1 Microdeletion Syndrome	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnorma...	ORPHA:251014
Chromosome 17P13.1 Deletion Syndrome	Broad hallux, Elbow flexion contracture, Long hallux, Arachnodactyly, Hallux valgus, Hydrocephalu...	OMIM:613776
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Silver-Russell Syndrome Due To A Point Mutation	Short 5th finger, Ectrodactyly, Polydactyly, Clinodactyly of the 5th finger, Syndactyly	ORPHA:397590
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:613153
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Drumstick terminal phalanges, Brachydactyly, Dandy-Walker malformation	OMIM:612938
Intellectual Developmental Disorder, Autosomal Dominant 65	Single transverse palmar crease, Short palm, Clinodactyly of the 5th finger, Short foot, Noncommu...	OMIM:619320
1Q21.1 Microdeletion Syndrome	Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Hand polydactyl...	ORPHA:250989
Goldberg-Shprintzen Megacolon Syndrome	Ventriculomegaly, Finger syndactyly	ORPHA:66629
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Small hand, Syndactyly	OMIM:616489
Hermansky-Pudlak Syndrome 4	Albinism, Ocular albinism	OMIM:614073
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Arachnodactyly, Toe syndactyly, Finger syndactyly, Short palm	ORPHA:73246
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh...	OMIM:611584
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Hydrocephalus	OMIM:613155
Aarskog-Scott Syndrome	Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd...	OMIM:305400
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Finger clinodactyly,...	ORPHA:1692
Alexander Disease Type I	Hydrocephalus	ORPHA:363717
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger	ORPHA:246
Hydrolethalus	Hydrocephalus, Anencephaly, Micromelia, Postaxial hand polydactyly	ORPHA:2189
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormality of skin pigmentation	ORPHA:743
Kury-Isidor Syndrome	Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima...	OMIM:619762
3C Syndrome	Ventriculomegaly, Finger syndactyly, Abnormal hip bone morphology, Hand polydactyly, Brachydactyl...	ORPHA:7
Bresek Syndrome	Hydrocephalus, Postaxial hand polydactyly	ORPHA:85284
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal stippling, Brachydact...	OMIM:101800
Chromosome 6Pter-P24 Deletion Syndrome	Hydrocephalus, Broad toe, Hip dysplasia, Short 2nd toe, Clinodactyly of the 5th finger, Rocker bo...	OMIM:612582
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Breast aplasia, Trichorrhexis ...	ORPHA:238468
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Rhizomelia, Sandal gap, Flared metaphysis, Elbow flexion contracture, Bilate...	OMIM:245600
Pallister-Hall Syndrome	Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist...	OMIM:146510
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:163961
Basal Cell Nevus Syndrome 2	Palmar pits, Hydrocephalus	OMIM:620343
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hydrocephalus	OMIM:601794
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Split hand, Hydroceph...	ORPHA:1335
Tetrasomy 5P	Overlapping toe, Talipes equinovarus, Short hallux, Hydrocephalus, Long fingers, Clinodactyly of ...	ORPHA:3309
Grange Syndrome	Brachydactyly, Finger clinodactyly, Syndactyly	OMIM:602531
Bartsocas-Papas Syndrome	Aplasia/Hypoplasia of the distal phalanges of the toes, Toe syndactyly, Absent thumb, Finger synd...	ORPHA:1234
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:411511
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly	OMIM:614800
Chiari Malformation Type Ii	Myelomeningocele, Cervical myelopathy, Hydrocephalus, Spina bifida	OMIM:207950
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Small hand, Bilateral single transverse palmar creases, Hydrocephalus, Camptodactyly, Dandy-Walke...	ORPHA:459061
Acrofacial Dysostosis, Catania Type	Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Spina bifida occulta, ...	ORPHA:1786
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger	ORPHA:1323
Larsen Syndrome	Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m...	ORPHA:503
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Congenital hip dislocation, Flared metaphysis, Dislocation of th...	OMIM:616007
Apert Syndrome	Ventriculomegaly, Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia ...	ORPHA:87
Genitopalatocardiac Syndrome	Hydrocephalus, Brachydactyly, Postaxial hand polydactyly	ORPHA:2075
Neu-Laxova Syndrome 2	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Spina bifida, Rocker bottom foot	OMIM:616038
Krabbe Disease	Increased CSF protein concentration, Hydrocephalus	OMIM:245200
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly	OMIM:618087
Congenital Disorder Of Glycosylation, Type Iil	Postaxial polydactyly, Ventriculomegaly, Hydrocephalus, Hip dysplasia	OMIM:614576
Nephronophthisis 18	Hydrocephalus	OMIM:615862
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Camptodactyly, Finger syndactyly, Single transverse palmar crease, Tapered finger	ORPHA:435938
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan...	OMIM:308050
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Optic Pathway Glioma	Hydrocephalus	ORPHA:2086
Coach Syndrome 2	Hydrocephalus	OMIM:619111
Rothmund-Thomson Syndrome, Type 3	Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme...	OMIM:615789
Fg Syndrome Type 1	Ventriculomegaly, Clinodactyly of the 2nd finger, Finger syndactyly, Abnormal thumb morphology, S...	ORPHA:93932
Meckel Syndrome 14	Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact...	OMIM:619879
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Hydrocephalus, Meningocele, Dandy-Walker malformation	OMIM:614424
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Erlenmeyer flask deformity of the femurs, Hydrocephalus, Metaphyseal widening, ...	OMIM:618476
Acrofacial Dysostosis, Palagonia Type	Spina bifida occulta, Short 4th metacarpal, Small hand, Finger syndactyly	ORPHA:1787
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Limb undergrowth, Brachydactyly...	OMIM:269860
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Brachydactyly, Cli...	ORPHA:1005
2Q37 Microdeletion Syndrome	Small hand, Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Brachy...	ORPHA:1001
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus	OMIM:243440
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas...	OMIM:274000
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Ventriculomegaly, Micromelia, Preaxial polydactyly, Occipital meningocele, Pos...	OMIM:616546
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ...	OMIM:142900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Hydrocephalus	OMIM:615181
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Talipes equinovarus,...	ORPHA:95699
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele	ORPHA:2318
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Camptodactyly, Abnormality of the hand, Clinodactyly, Syndactyly	ORPHA:369891
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation	OMIM:240200
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Encephalocele, 2-3 toe syndactyly, Hydrocephalus, Postaxial hand poly...	OMIM:264480
Rubinstein-Taybi Syndrome	Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B...	ORPHA:783
Osteopetrosis, Autosomal Recessive 2	Genu valgum, Diaphyseal sclerosis, Hydrocephalus	OMIM:259710
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Ventriculomegaly, Sandal gap, Finger syndactyly, Deep palmar crease, Clinodacty...	ORPHA:254346
Fraser Syndrome 3	Hydrocephalus, Cutaneous syndactyly, Short toe	OMIM:617667
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat...	OMIM:305450
Chromosome 6Q24-Q25 Deletion Syndrome	Small hand, Sandal gap, Prominent fingertip pads, Lateral ventricle dilatation, Hydrocephalus	OMIM:612863
Filippi Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Enlar...	ORPHA:3255
Hermansky-Pudlak Syndrome 7	Albinism, Ocular albinism	OMIM:614076
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormal hip bone morphology, Hydrocephalus	ORPHA:2720
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus	ORPHA:398189
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper...	ORPHA:989
Multiple Sulfatase Deficiency	Broad thumb, Hydrocephalus, Broad hallux phalanx	ORPHA:585
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Talipes equinovarus, Hydrocephalu...	ORPHA:63259
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Abnormal hair morphology, Abnormality of skin pigmentation, Premature graying of hair	ORPHA:1979
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,...	OMIM:193500
Kbg Syndrome	Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly	ORPHA:2332
Craniofacial Dyssynostosis With Short Stature	Ventriculomegaly, Hydrocephalus	OMIM:218350
Cole-Carpenter Syndrome	Bowing of the long bones, Communicating hydrocephalus, Abnormal metaphysis morphology, Crumpled l...	ORPHA:2050
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation	OMIM:225790
Lhermitte-Duclos Disease	Hand polydactyly, Hydrocephalus	ORPHA:65285
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short distal phalanx of finger, Short toe, Hydrocephalus, Delayed ossification of carpal bones, T...	OMIM:239300
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers	OMIM:618316
Joubert Syndrome	Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele	ORPHA:475
Hemangioblastoma	Hydrocephalus	ORPHA:252054
Acrocardiofacial Syndrome	Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Hallu...	ORPHA:2008
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Small hand, Hydrocephalus, Hip dysplasia, Short foot	ORPHA:500055
Osteopetrosis, Autosomal Recessive 1	Femur fracture, Hydrocephalus, Flared metaphysis, Coxa vara	OMIM:259700
Amelocerebrohypohidrotic Syndrome	Hydrocephalus	ORPHA:1946
Marfanoid-Progeroid-Lipodystrophy Syndrome	Arachnodactyly, Hydrocephalus, Scapular winging, Long fingers, Lateral ventricular asymmetry, Hyp...	OMIM:616914
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Ventriculomegaly, Absent thumb, Hydrocephalus	OMIM:300514
Williams-Beuren Region Duplication Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:609757
Hb Bart'S Hydrops Fetalis	Hydrocephalus	ORPHA:163596
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Dilated third ventricle, Finger syndactyly, Clinodactyly, Lateral ve...	ORPHA:464738
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Dilated fourth ventricle, Occipital encephalocele, Hydrocephalus	ORPHA:370959
Pseudoaminopterin Syndrome	Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th...	ORPHA:221120
Trisomy 8P	Short fifth metatarsal, Short 1st metacarpal, Clinodactyly of the 2nd finger, Clinodactyly of hal...	ORPHA:264450
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Hydrocephalu...	OMIM:300960
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of the 5th finge...	ORPHA:158687
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe, Contracture...	ORPHA:314585
Chromosome 13Q33-Q34 Deletion Syndrome	Short thumb, Overlapping toe, Distally placed thumb, Encephalocele, Single transverse palmar crea...	OMIM:619148
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p...	ORPHA:3103
Bohring-Opitz Syndrome	Short toe, Overlapping toe, Mesomelic/rhizomelic limb shortening, Tapered finger, Deep palmar cre...	OMIM:605039
Constricting Bands, Congenital	Talipes equinovarus, Hand polydactyly, Encephalocele, Syndactyly	OMIM:217100
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hydrocephalus, Ventriculomegaly, Sandal gap, Abnormal fibula morphology	ORPHA:1812
Mend Syndrome	Broad hallux, Overlapping toe, Overlapping fingers, 2-3 toe syndactyly, Hand polydactyly, Hydroce...	ORPHA:401973
Arachnoiditis	Hydrocephalus	ORPHA:137817
Combined Oxidative Phosphorylation Deficiency 25	Ventriculomegaly, Syndactyly	OMIM:616430
Trisomy 17P	Clinodactyly of the 5th finger, Hydrocephalus, Tapered finger	ORPHA:261290
Pili Torti-Onychodysplasia Syndrome	Cutaneous syndactyly, Palmoplantar keratoderma	ORPHA:2890
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Nasofrontal encephalocele, Ventriculomegaly, Hydrocephalus	OMIM:614195
Peho Syndrome	Ventriculomegaly, Hydrocephalus, Tapered finger	ORPHA:2836
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Ectodermal Dysplasia-Blindness Syndrome	Abnormal fingernail morphology, Fine hair, Sparse hair, Abnormality of skin pigmentation	ORPHA:1806
Townes-Brocks Syndrome 1	Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepiphyses of second metacarpal,...	OMIM:107480
Joubert Syndrome With Ocular Defect	Hydrocephalus, Foot polydactyly, Hand polydactyly, Encephalocele	ORPHA:220493
Limb Body Wall Complex	Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s...	ORPHA:2369
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Hydrocephalus	OMIM:612940
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Split ...	ORPHA:958
19Q13.11 Microdeletion Syndrome	Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Clinodactyly of ...	ORPHA:217346
Oxoglutaric Aciduria	Hydrocephalus	ORPHA:31
Mirage Syndrome	Radial club hand, Overlapping fingers, Talipes equinovarus, Hydrocephalus, Rocker bottom foot	OMIM:617053
Cri-Du-Chat Syndrome	Single transverse palmar crease, Metatarsus adductus, Short metatarsal, Short metacarpal, High ax...	OMIM:123450
Joubert Syndrome With Renal Defect	Hydrocephalus, Hand polydactyly, Encephalocele	ORPHA:220497
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of fingers, Hy...	OMIM:114290
47,Xyy Syndrome	Hydrocephalus, Finger clinodactyly	ORPHA:8
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged...	OMIM:308300
Moebius Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th...	ORPHA:570
Dubowitz Syndrome	Small hand, Broad thumb, Toe syndactyly, Sandal gap, Spina bifida occulta, Aplasia/Hypoplasia of ...	ORPHA:235
Microphthalmia With Brain And Digit Anomalies	Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly	ORPHA:139471
X Small Rings	Toe syndactyly, Upper limb undergrowth, Lower limb undergrowth, 2-3 toe syndactyly, Cutaneous syn...	ORPHA:96201
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis...	OMIM:268310
Tarp Syndrome	Clinodactyly, Single transverse palmar crease, Postaxial polydactyly, Talipes equinovarus, Short ...	OMIM:311900
Ring Chromosome 12 Syndrome	Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly, Syndactyly	ORPHA:1439
B4Galt1-Cdg	Hydrocephalus, Dandy-Walker malformation	ORPHA:79332
Crouzon Syndrome	Hydrocephalus	ORPHA:207
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Albinism, Ocular albinism	OMIM:614074
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Colpocephaly, Communicating hydrocephalus, Hydrocephalus	OMIM:615219
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98794
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Bulbous tips of toes, 2-3 toe syndactyly, Long toe, Hydroceph...	ORPHA:163979
Emanuel Syndrome	Congenital hip dislocation, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:609029
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Hypoplastic ilia, Dysplasia of the femoral head, Acetabular dysplasia, Arachnodactyly, Talipes eq...	ORPHA:536467
Primary Ciliary Dyskinesia	Hydrocephalus, Ventriculomegaly, Clubbing	ORPHA:244
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Rhizomelia, Femoral bowing, Tibial bowing, Palmoplantar cutis laxa, Hydrocephalus, Mesomelia	OMIM:616482
Orofaciodigital Syndrome Type 6	Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly...	ORPHA:2754
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Ocular albinism, Iris transillumination defect, Blue irides, Generalized hypopi...	OMIM:614077
Cole-Carpenter Syndrome 2	Hydrocephalus, Narrow iliac wing	OMIM:616294
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Genu valgum, Arachnodactyly, Talipes equinovarus, Hydrocephalus, M...	OMIM:182212
Mucopolysaccharidosis, Type Vii	Genu valgum, Acetabular dysplasia, Talipes equinovarus, Narrow greater sciatic notch, Hydrocephal...	OMIM:253220
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Giant mel...	OMIM:214500
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Cervical myelopathy, Hypoplastic acetabulae, Hypoplastic iliac wing, Genu v...	OMIM:253200
Distal Triplication 15Q	Arachnodactyly, Camptodactyly, Hydrocephalus, Dandy-Walker malformation	ORPHA:314588
Basal Cell Nevus Syndrome 1	Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me...	OMIM:109400
Walker-Warburg Syndrome	Hydrocephalus, Ventriculomegaly, Metatarsus valgus, Dandy-Walker malformation	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Hydrocephalus, Dandy-Wal...	OMIM:613154
8Q22.1 Microdeletion Syndrome	Sandal gap, Finger syndactyly, Camptodactyly of finger	ORPHA:178303
Adams-Oliver Syndrome 5	Brachydactyly, Syndactyly	OMIM:616028
14Q22Q23 Microdeletion Syndrome	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single trans...	ORPHA:264200
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Talipes equinovarus, Ventriculomegaly, Hydrocephalus, Tapered finger	OMIM:613603
Myoclonic-Astatic Epilepsy	Syndactyly	ORPHA:1942
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Clinodactyly, Brachydactyly, Proximal placement of thumb, Short palm, Syndactyly	OMIM:217980
Congenital Sialidosis Type 2	Hydrocephalus, Polydactyly	ORPHA:93400
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis, Brachydact...	ORPHA:2658
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar...	ORPHA:2215
Cole-Carpenter Syndrome 1	Communicating hydrocephalus, Hydrocephalus	OMIM:112240
Joubert Syndrome 2	Postaxial foot polydactyly, Enlarged fossa interpeduncularis, Encephalocele, Hydrocephalus, Posta...	OMIM:608091
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Ventriculomegaly, Encephalocele, Hydrocephalus, Adducted thumb, Dandy-Walker malformation	OMIM:614643
Sclerosteosis 1	Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de...	OMIM:269500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Clinodactyly...	ORPHA:457284
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact...	ORPHA:2710
Plasminogen Deficiency, Type I	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:217090
Lenz-Majewski Hyperostotic Dwarfism	Ventriculomegaly, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbo...	OMIM:151050
Hamamy Syndrome	Down-sloping shoulders, Long toe, Tapered finger, Long fingers, Hip dysplasia, Short 2nd finger, ...	OMIM:611174
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla...	OMIM:263750
Emanuel Syndrome	Congenital hip dislocation, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	ORPHA:96170
Hurler Syndrome	Hypoplasia of the femoral head, Short clavicles, Flared iliac wing, Hydrocephalus, Metaphyseal wi...	OMIM:607014
Cohen Syndrome	Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac...	ORPHA:193
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Aplasia of the distal phalanges of the hand, Abnorma...	ORPHA:3472
Sacral Defect With Anterior Meningocele	Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes equinovarus, Meningocele, Dermal...	OMIM:600145
Pettigrew Syndrome	Aqueductal stenosis, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:304340
Intellectual Developmental Disorder, Autosomal Dominant 70	Hydrocephalus	OMIM:620157
Cerebrofacioarticular Syndrome	Ventriculomegaly, Caudal appendage, Talipes equinovarus, Camptodactyly, Syndactyly	ORPHA:314679
Poland Syndrome	Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha...	ORPHA:2911
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Heterochromia...	ORPHA:163746
Mucopolysaccharidosis Type 1	Abnormal epiphysis morphology, Abnormal hip bone morphology, Hydrocephalus, Split hand, Abnormal ...	ORPHA:579
Orofaciodigital Syndrome Type 2	Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,...	ORPHA:2751
Stolerman Neurodevelopmental Syndrome	Clinodactyly of the 5th finger, Broad palm, Syndactyly	OMIM:618505
Cantú Syndrome	Short distal phalanx of finger, Finger syndactyly, Coxa valga, Short hallux, Abnormal metaphysis ...	ORPHA:1517
Femoral-Facial Syndrome	Short fifth metatarsal, Ventriculomegaly, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand p...	OMIM:134780
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilata...	OMIM:210710
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Hydrocephalus	ORPHA:1834
Orofaciodigital Syndrome I	Clinodactyly, Radial deviation of finger, Myelomeningocele, Polydactyly, Brachydactyly, Hydroceph...	OMIM:311200
Meckel Syndrome, Type 1	Ventriculomegaly, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Radial devia...	OMIM:249000
Prader-Willi Syndrome	Small hand, Ventriculomegaly, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm,...	OMIM:176270
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus	ORPHA:2184
Pontocerebellar Hypoplasia, Type 7	Ventriculomegaly, Hydrocephalus, Single transverse palmar crease	OMIM:614969
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Meningocele, Finger syndactyly, Camptodactyly of finger	ORPHA:2311
Griscelli Syndrome	Hydrocephalus, Encephalocele	ORPHA:381
Teebi-Shaltout Syndrome	Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Ulnar deviation of the ha...	OMIM:272950
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Long eyel...	ORPHA:79430
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Hydrocephalus, Aqueductal stenosis, Holoprosencephaly...	OMIM:619895
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus	ORPHA:1926
Ciliary Dyskinesia, Primary, 43	Noncommunicating hydrocephalus	OMIM:618699
Mucopolysaccharidosis, Type Ii	Hydrocephalus, Split hand	OMIM:309900
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly	OMIM:614520
Hyperparathyroidism, Transient Neonatal	Fractured rib, Ventriculomegaly, Metaphyseal spurs, Femoral bowing, Short long bone, Communicatin...	OMIM:618188
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ...	ORPHA:794
Focal Dermal Hypoplasia	Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph...	ORPHA:2092
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Lateral ventricle dilatation, Genu valgum, Cubitus valgus, Metatarsus adductus, Norma...	ORPHA:300570
Craniolenticulosutural Dysplasia	Coarse hair, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Brittle hair, Spars...	ORPHA:50814
Cerebrooculonasal Syndrome	Ventriculomegaly, Encephalocele, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydactyly...	OMIM:605627
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos...	OMIM:209900
Brittle Cornea Syndrome	Abnormality of hair pigmentation	ORPHA:90354
Hartsfield Syndrome	Semilobar holoprosencephaly, Alobar holoprosencephaly, Ectrodactyly, Lobar holoprosencephaly, Syn...	OMIM:615465
Acquired Aneurysmal Subarachnoid Hemorrhage	Increased CSF lactate, Hydrocephalus, Hyperglycorrhachia	ORPHA:90065
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Fibular aplasia, Fibular hypoplasia, Arachnodactyly, Talipes equin...	OMIM:300373
Congenital Myopathy 22A, Classic	Normal pressure hydrocephalus, Scapular winging, Hip contracture, Congenital finger flexion contr...	OMIM:620351
Desmosterolosis	Ventriculomegaly, Joint contracture of the hand, Rhizomelia, Hydrocephalus, Bilateral talipes equ...	OMIM:602398
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly...	ORPHA:84
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Holoprosencephaly, Hydrocephalus	ORPHA:77298
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Mckusick-Kaufman Syndrome	Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos...	ORPHA:2473
Desmosterolosis	Hydrocephalus, Ventriculomegaly, Micromelia, Metatarsus adductus	ORPHA:35107
Lowry-Maclean Syndrome	Hydrocephalus, Single transverse palmar crease	ORPHA:2409
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall...	ORPHA:2211
Beare-Stevenson Cutis Gyrata Syndrome	Ventriculomegaly, Overlapping toe, Limited elbow extension, Palmoplantar cutis laxa, Hydrocephalus	OMIM:123790
Multiple Pterygium Syndrome, Escobar Variant	Ulnar deviation of finger, Patellar aplasia, Acetabular dysplasia, Down-sloping shoulders, Arachn...	OMIM:265000
Osteootohepatoenteric Syndrome	Avascular necrosis of the capital femoral epiphysis, Hydrocephalus, Hip dysplasia	OMIM:619377
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Marshall-Smith Syndrome	Slender finger, Short distal phalanx of finger, Ventriculomegaly, Prominent fingertip pads, Slend...	OMIM:602535
Vacterl With Hydrocephalus	Hydrocephalus, Hypoplasia of the radius, Spina bifida, Aqueductal stenosis, Hip dislocation	ORPHA:3412
Koolen-De Vries Syndrome	Abnormality of hair texture, Hypopigmentation of hair	ORPHA:96169
1Q44 Microdeletion Syndrome	Ventriculomegaly, Hydrocephalus	ORPHA:238769
Shprintzen-Goldberg Syndrome	Ventriculomegaly, Elbow dislocation, Camptodactyly of finger, Genu valgum, Arachnodactyly, Bowing...	ORPHA:2462
Fanconi Anemia, Complementation Group D2	Absent thumb, Short thumb, Preaxial hand polydactyly, Partial duplication of thumb phalanx, Hydro...	OMIM:227646
Hurler Syndrome	Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of finger, Hydrocepha...	ORPHA:93473
Kbg Syndrome	Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, C...	OMIM:148050
Focal Dermal Hypoplasia	Midclavicular hypoplasia, Congenital hip dislocation, Finger aplasia, Toe syndactyly, 3-4 finger ...	OMIM:305600
Monosomy 18Q	Arachnodactyly, Talipes equinovarus, Abnormal palmar dermatoglyphics, Hydrocephalus, Tapered finger	ORPHA:1600
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Aplasia/Hypoplasia involving the pelvis	ORPHA:3301
Incontinentia Pigmenti	Alopecia, Irregular hyperpigmentation, Ridged fingernail, Hypopigmented skin patches, Dystrophic ...	ORPHA:464
Aymé-Gripp Syndrome	Ventriculomegaly, Reduced arm span, Radioulnar synostosis, Hydrocephalus, Camptodactyly, Clinodac...	ORPHA:1272
Autosomal Dominant Popliteal Pterygium Syndrome	Toe syndactyly, Split hand, Finger syndactyly	ORPHA:1300
Autosomal Recessive Faciodigitogenital Syndrome	Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair	ORPHA:1974
Acromelic Frontonasal Dysostosis	Ventriculomegaly, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot poly...	OMIM:603671
Monosomy 13Q14	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Brachydactyly, Clinodactyly of the 5th finger...	ORPHA:1587
Mycophenolate Mofetil Embryopathy	Foot polydactyly, Hydrocephalus, Short palm	ORPHA:268249
Syndromic Diarrhea	Trichorrhexis nodosa, Uncombable hair, Generalized hypopigmentation, Brittle hair, Hypopigmentati...	ORPHA:84064
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th...	ORPHA:568
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus	ORPHA:1237
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd...	ORPHA:887
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Hydrocephalus, Slender long bone	OMIM:618590
Dyskeratosis Congenita, Digenic	Alopecia, Nail dystrophy, Abnormality of skin pigmentation, Sparse eyelashes	OMIM:620040
Raine Syndrome	Micromelia, Long hallux, Bowing of the long bones, Brachydactyly, Hydrocephalus	OMIM:259775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus	OMIM:615249
Hec Syndrome	Communicating hydrocephalus	ORPHA:2119
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Brachydactyly, Camptodactyly, Short phalanx of finger, Mesomelia, Synd...	OMIM:616894
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Ventriculomegaly, Finger syndactyly, Clinodactyly,...	OMIM:256520
Chromosome 8Q21.11 Deletion Syndrome	Camptodactyly, Short metacarpal, Absent palmar crease, Syndactyly	OMIM:614230
Spondylocostal Dysostosis 4, Autosomal Recessive	Myelomeningocele, Spina bifida occulta, Hydrocephalus	OMIM:613686
Faciodigitogenital Syndrome, Autosomal Recessive	Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f...	OMIM:227330
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:617281
Monosomy 9Q22.3	Palmar pits, Ventriculomegaly, Hydrocephalus, Polydactyly	ORPHA:77301
Smith-Lemli-Opitz Syndrome	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Short toe, Short thumb, Micromelia, Ove...	OMIM:270400
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Aqueductal stenosis, Hydrocephalus, Long fingers, Bilateral talipes e...	OMIM:619512
Meckel Syndrome	Postaxial foot polydactyly, Preaxial hand polydactyly, Encephalocele, Bowing of the long bones, H...	ORPHA:564
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly	ORPHA:1454
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	2-3 toe cutaneous syndactyly, Talipes equinovarus, Cutaneous syndactyly, Camptodactyly, 3-4 finge...	OMIM:620029
Peroxisome Biogenesis Disorder 12A (Zellweger)	Hydrocephalus	OMIM:614886
Tenorio Syndrome	Ventriculomegaly, Hydrocephalus	OMIM:616260
Autosomal Recessive Robinow Syndrome	Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El...	ORPHA:1507
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Palmoplantar cutis gyrata, Palmoplantar keratoderma, Hydrocephalus	ORPHA:1555
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Brachydactyly, Hypoglycorrhachia	ORPHA:168577
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo...	ORPHA:261318
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Hypopigmentation of hair, Ocular albinism	ORPHA:2719
Gorlin Syndrome	Arachnodactyly, Palmar pits, Brachydactyly, Hydrocephalus	ORPHA:377
Cardiofaciocutaneous Syndrome 1	Cubitus valgus, Deep palmar crease, Hydrocephalus, Clinodactyly of the 5th finger, Hyperextensibi...	OMIM:115150
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma...	ORPHA:3253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Ventriculomegaly, Hydrocephalus	OMIM:616538
Neurocardiofaciodigital Syndrome	Polydactyly, Dilated fourth ventricle, Lateral ventricle dilatation, Syndactyly	OMIM:619869
Neonatal Lupus Erythematosus	Hydrocephalus	ORPHA:398124
Osteopetrosis, Autosomal Recessive 5	Ventriculomegaly, Hip subluxation, Hydrocephalus, Flared metaphysis	OMIM:259720
Stromme Syndrome	Hydrocephalus, Preaxial polydactyly	OMIM:243605
Cardiofaciocutaneous Syndrome	Palmoplantar keratoderma, Genu valgum, Abnormal morphology of ulna, Cubitus valgus, Deep palmar c...	ORPHA:1340
Lethal Omphalocele-Cleft Palate Syndrome	Hydrocephalus	ORPHA:2736
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi...	OMIM:263650
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Femur fracture, Lateral ventricle dilatation	OMIM:612301
Hermansky-Pudlak Syndrome 2	Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized hypopigmentation, Albinism	OMIM:608233
Orofaciodigital Syndrome Type 1	Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty...	ORPHA:2750
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Talipes equinovarus, Colp...	OMIM:620371
Baller-Gerold Syndrome	Radial deviation of the hand, Absent thumb, Patellar hypoplasia, Carpal synostosis, Oligodactyly,...	OMIM:218600
Proteus-Like Syndrome	Communicating hydrocephalus, Hydrocephalus	ORPHA:2969
H Syndrome	Camptodactyly, Hallux valgus, Hydrocephalus	ORPHA:168569
Dextrocardia	Congenital hip dislocation, Hydrocephalus	ORPHA:1666
Mosaic Variegated Aneuploidy Syndrome 1	Short sternum, Ventriculomegaly, Hydrocephalus, Dandy-Walker malformation	OMIM:257300
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventriculomegaly, Hip dysplasia, Brachydactyly, Syndactyly	OMIM:620654
Jacobsen Syndrome	Hydrocephalus, Clinodactyly of the 5th finger, Holoprosencephaly, Brachydactyly	OMIM:147791
Mckusick-Kaufman Syndrome	Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly	OMIM:236700
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Preaxia...	OMIM:200990
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398079
8Q21.11 Microdeletion Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absent palmar crease	ORPHA:284160
Coccidioidomycosis	Increased CSF protein concentration, Hypoglycorrhachia, Abnormal long bone morphology, CSF lympho...	ORPHA:228123
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect	ORPHA:268810
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ...	ORPHA:2886
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hydrocephalus, Holoprosencephaly, Encephalocele, Postaxial hand polydactyly	ORPHA:2166
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Clinodactyly, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Narrow joint spaces of t...	ORPHA:96182
Hajdu-Cheney Syndrome	Foot acroosteolysis, Genu valgum, Fibular bowing, Crowded carpal bones, Osteolytic defects of the...	OMIM:102500
Axenfeld-Rieger Syndrome, Type 2	Hydrocephalus	OMIM:601499
Neurooculorenal Syndrome	Ventriculomegaly, Short 1st metacarpal, Talipes equinovarus, Short hallux, Hydrocephalus, Aqueduc...	OMIM:620305
Mosaic Trisomy 16	Short forearm, Short thumb, Clinodactyly, Single transverse palmar crease, Short femoral neck, Sy...	ORPHA:1708
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy...	ORPHA:69085
Osteogenesis Imperfecta	Rhizomelia, Calcification of the interosseus membrane of the forearm, Ventriculomegaly, Micromeli...	ORPHA:666
Distal 22Q11.2 Microduplication Syndrome	Toe syndactyly, Camptodactyly of finger, Camptodactyly of toe, Hydrocephalus, Tapered finger	ORPHA:261337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Encephalocele	OMIM:253800
Fanconi Anemia, Complementation Group L	Bilateral talipes equinovarus, Absent thumb, Hydrocephalus, Absent radius	OMIM:614083
Hermansky-Pudlak Syndrome 10	Albinism, Ocular albinism	OMIM:617050
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Ulnar deviation of finger, Ventriculomegaly, Clinodactyly, Sandal gap, Radial deviation of finger...	OMIM:618164
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Cerebral Visual Impairment	Hydrocephalus	ORPHA:447788
Crouzon Syndrome	Hydrocephalus	OMIM:123500
Dural Sinus Malformation	Myelopathy, Hydrocephalus	ORPHA:97339
Congenital Syphilis	CSF pleocytosis, Hydrocephalus, Tibial bowing	ORPHA:499009
Holoprosencephaly	Spinal dysraphism, Encephalocele, Hand polydactyly, Brachydactyly, Hydrocephalus, Holoprosencepha...	ORPHA:2162
Smith-Lemli-Opitz Syndrome	Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna...	ORPHA:818
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe...	OMIM:101400
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly	OMIM:129400
Neurofibromatosis, Type I	Tibial pseudarthrosis, Genu valgum, Hydrocephalus, Spina bifida, Aqueductal stenosis	OMIM:162200
Fetal Akinesia Deformation Sequence 1	Slender long bone, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of the hand...	OMIM:208150
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe, Bowing of the lo...	ORPHA:955
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus	ORPHA:1064
Arachnoid Cyst	Hydrocephalus, Holoprosencephaly, Enlarged fossa interpeduncularis, Encephalocele	ORPHA:2356
7Q11.23 Microduplication Syndrome	Ventriculomegaly, Single transverse palmar crease, Cubitus valgus, Hydrocephalus, Long fingers	ORPHA:96121
Jacobsen Syndrome	Toe clinodactyly, Ventriculomegaly, Toe syndactyly, Finger syndactyly, Short toe, Long hallux, Ha...	ORPHA:2308
Vater/Vacterl Association	Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ...	OMIM:192350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Hydrocephalus, Ventriculomegaly, Encephalocele	OMIM:613150
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98754
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Hypopigmentation of the skin, Hyperpigmentation of the skin, Stellate iris...	ORPHA:177907
Kabuki Syndrome	Short 5th finger, Ventriculomegaly, Small hand, Short middle phalanx of finger, Hydrocephalus, Hi...	ORPHA:2322
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post...	OMIM:610168
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:98793
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:398069
Wolf-Hirschhorn Syndrome	Pseudoepiphyses of the metacarpals, Ventriculomegaly, Short thumb, Preaxial hand polydactyly, Pre...	OMIM:194190
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Arachnodactyly, Ventriculomegaly, Communicating hydrocephalus, Large hands	OMIM:617011
Lateral Meningocele Syndrome	Meningocele, Hydrocephalus	OMIM:130720
Autosomal Recessive Multiple Pterygium Syndrome	Spina bifida occulta, Finger syndactyly, Symphalangism affecting the phalanges of the hand, Campt...	ORPHA:2990
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177904
Rabin-Pappas Syndrome	Hydrocephalus	OMIM:620155
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177901
Functioning Gonadotropic Adenoma	Hydrocephalus	ORPHA:91348
Encephalocraniocutaneous Lipomatosis	Hydrocephalus, Dandy-Walker malformation	OMIM:613001
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Partial albinism, Iris transillumination defect, A...	OMIM:614075
Chédiak-Higashi Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Spotty hyperpigmentation, Large clumps of pi...	ORPHA:167
Marden-Walker Syndrome	Camptodactyly of finger, Arachnodactyly, Radioulnar synostosis, Hydrocephalus, Metatarsus adductus	ORPHA:2461
Whipple Disease	Hydrocephalus	ORPHA:3452
Vici Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Ocular albinism	OMIM:242840
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th...	OMIM:180849
Eec Syndrome	Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Pro...	ORPHA:1896
Roberts-Sc Phocomelia Syndrome	Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexion contracture...	OMIM:268300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly	ORPHA:1521
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Ventriculomegaly, Hydrocephalus	ORPHA:395
Mucopolysaccharidosis Type 3	Ventriculomegaly, Avascular necrosis of the capital femoral epiphysis, Genu valgum, Hydrocephalus...	ORPHA:581
Glutaryl-Coa Dehydrogenase Deficiency	Ventriculomegaly, Communicating hydrocephalus, Subependymal nodules	ORPHA:25
Monosomy 22	Single transverse palmar crease, Clinodactyly of the 5th finger, Finger syndactyly, Clubbing	ORPHA:96123
Peters-Plus Syndrome	Rhizomelia, Abnormal pelvic girdle bone morphology, Square pelvis bone, Short toe, Ventriculomega...	OMIM:261540
Icf Syndrome	Communicating hydrocephalus	ORPHA:2268
Prader-Willi Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:739
Bloom Syndrome	Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly	OMIM:210900
Simpson-Golabi-Behmel Syndrome	Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact...	ORPHA:373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Meningoencephalocele, Dandy-Walker malf...	OMIM:236670
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus	OMIM:313850
Lacrimoauriculodentodigital Syndrome	Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho...	ORPHA:2363
Cutis Marmorata Telangiectatica Congenita	Toe syndactyly, Short lower limbs, Finger syndactyly, Abnormality of the upper limb	ORPHA:1556
Menkes Disease	Woolly hair, Hypopigmentation of hair, Sparse hair	ORPHA:565
Koolen-De Vries Syndrome Due To A Point Mutation	Ventriculomegaly, Prominent fingertip pads, Hand muscle atrophy, Arachnodactyly, Spina bifida, Hy...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Ventriculomegaly, Prominent fingertip pads, Hand muscle atrophy, Arachnodactyly, Spina bifida, Hy...	ORPHA:363958
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Avascular necrosis of ...	ORPHA:3107
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Ablepharon Macrostomia Syndrome	Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Abnormalit...	ORPHA:920
Scalp-Ear-Nipple Syndrome	Broad thumb, Finger syndactyly, Lateral ventricle dilatation, 2-3 toe syndactyly, Clinodactyly of...	OMIM:181270
Simpson-Golabi-Behmel Syndrome, Type 1	Short distal phalanx of finger, Broad thumb, Short finger, Short greater sciatic notch, Postaxial...	OMIM:312870
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Fraser Syndrome 1	Myelomeningocele, Cutaneous finger syndactyly, Wide pubic symphysis, Encephalocele, Aplasia/Hypop...	OMIM:219000
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovarus, Duplication of phalanx of...	OMIM:236680
Alexander Disease	Aqueductal stenosis, Hydrocephalus	ORPHA:58
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Hydrocephalus	ORPHA:228308
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Ventriculomegaly, Hip dysplasia, Syndactyly	OMIM:616975
Alpha-Mannosidosis, Infantile Form	Genu valgum, Cortical thickening of long bone diaphyses, Bilateral coxa valga, Bilateral talipes ...	ORPHA:309282
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus	OMIM:244400
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor...	ORPHA:2907
Linear Skin Defects With Multiple Congenital Anomalies 1	Colpocephaly, Hydrocephalus, Single transverse palmar crease	OMIM:309801
Cranioectodermal Dysplasia 2	Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd...	OMIM:613610
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Hydrocep...	ORPHA:667
Peters Plus Syndrome	Rhizomelia, Toe syndactyly, Ventriculomegaly, Short toe, Micromelia, Spina bifida occulta, Brachy...	ORPHA:709
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Deep palmar crease, Hydrocephalus	ORPHA:505248
Robinow Syndrome	Short distal phalanx of finger, Radioulnar dislocation, Bifid distal phalanx of the thumb, Brachy...	ORPHA:97360
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Myelomeningocele, Hydrocephalus, Short long bone, Bilateral talipes e...	OMIM:306955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Hydrocephalus, Communicating hydrocephalus, Anencephal...	OMIM:615287
Holoprosencephaly 9	Alobar holoprosencephaly, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Occipital...	OMIM:610829
Medulloblastoma	Hydrocephalus	ORPHA:616
Gaucher Disease, Type Iiic	Hydrocephalus	OMIM:231005
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus	ORPHA:157
Degcags Syndrome	Hypopigmentation of the skin, Premature graying of hair, Hypertrichosis, Abnormal eyebrow morphol...	OMIM:619488
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Clinodactyly, Slender long bone, Short humerus, Talipes equinovarus, Long toe, ...	OMIM:264090
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, F...	OMIM:216340
Dubowitz Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Syndactyly	OMIM:223370
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Hydrocephalus	ORPHA:220295
Genitourinary And/Or Brain Malformation Syndrome	Colpocephaly, Holoprosencephaly, Syndactyly	OMIM:618820
Diaphragmatic Hernia 4, With Cardiovascular Defects	2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Finger syndactyly	OMIM:620025
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventriculomegaly, Genu valgum, Single transverse palmar crease, Talipes equinovarus, Decreased CS...	OMIM:619475
22Q11.2 Deletion Syndrome	Arachnodactyly, Talipes equinovarus, Hand polydactyly, Spina bifida, Hydrocephalus, Foot polydact...	ORPHA:567
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fifth metatarsal, Slender finger, Cone-shaped epiphysis, Short finger, Single transverse pa...	OMIM:619841
Cockayne Syndrome A	Ventriculomegaly, Square pelvis bone, Hypoplastic iliac wing, Hypoplastic pelvis, Hip contracture...	OMIM:216400
Microphthalmia, Syndromic 6	Ventriculomegaly, Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar ...	OMIM:607932
Hypoplasminogenemia	Hydrocephalus, Dandy-Walker malformation	ORPHA:722
Loeys-Dietz Syndrome 1	Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Hydrocephalus, Postaxial hand polydac...	OMIM:609192
Sturge-Weber Syndrome	Hydrocephalus	ORPHA:3205
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto...	ORPHA:2753
Fontaine Progeroid Syndrome	Short distal phalanx of finger, Absent distal phalanges, Deep palmar crease, Hydrocephalus, Synda...	OMIM:612289
Isotretinoin-Like Syndrome	Hydrocephalus	ORPHA:2306
Costello Syndrome	Ventriculomegaly, Limited elbow movement, Talipes equinovarus, Deep palmar crease, Hydrocephalus,...	OMIM:218040
Knobloch Syndrome	Occipital encephalocele, Hydrocephalus	ORPHA:1571
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus	OMIM:277400
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly	ORPHA:1071
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Bilateral single transverse palmar creases, Talipes equinovarus...	ORPHA:3310
Chromosome 1P36 Deletion Syndrome, Distal	Short 5th finger, Lateral ventricle dilatation, Camptodactyly of finger, Brachydactyly, Metatarsu...	OMIM:607872
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o...	ORPHA:353277
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Arachnodactyly, Ventriculomegaly, Communicating hydrocephalus	ORPHA:457359
Thakker-Donnai Syndrome	Communicating hydrocephalus	ORPHA:1780
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation...	OMIM:149730
Oeis Complex	Myelomeningocele, Talipes equinovarus, Congenital hip dislocation, Hydrocephalus	OMIM:258040
Coffin-Siris Syndrome 12	Slender finger, Broad thumb, Short thumb, Radioulnar synostosis, Cutaneous syndactyly, Hip sublux...	OMIM:619325
Cockayne Syndrome B	Square pelvis bone, Hypoplastic iliac wing, Hypoplastic pelvis, Normal pressure hydrocephalus, Iv...	OMIM:133540
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Ventriculomegaly, Hallux valgus, Hydrocephalus	ORPHA:2072
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus	OMIM:616084
Kindler Epidermolysis Bullosa	Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short...	ORPHA:2908
Kabuki Syndrome 1	Short 5th finger, Congenital hip dislocation, Lateral ventricle dilatation, Prominent fingertip p...	OMIM:147920
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrocephalus	ORPHA:79282
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Sirenomelia, Aplasia/Hypoplasia of the phalange...	ORPHA:79500
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Camptodactyly of finger, Short humerus, 2-3 toe syndactyly, Long toe, Hydroceph...	ORPHA:3455
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Genu valgum, Hydrocephalus	OMIM:619321
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Hypopi...	OMIM:219800
Capillary Malformation-Arteriovenous Malformation	Hydrocephalus	ORPHA:137667
Tetraamelia Syndrome 1	Hypoplastic pelvis, Hydrocephalus	OMIM:273395
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Finger syndactyly	ORPHA:1519
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow iliac wing, Hydrocephalus, Hip contracture	ORPHA:3042
Craniopharyngioma	Hydrocephalus	ORPHA:54595
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus	ORPHA:91350
Acrofacial Dysostosis, Cincinnati Type	Ventriculomegaly, Femoral bowing, Acetabular dysplasia, Single transverse palmar crease, Flared l...	OMIM:616462
Trichorhinophalangeal Syndrome, Type Ii	2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the...	OMIM:150230
Glycogen Storage Disease Of Heart, Lethal Congenital	Hydrocephalus	OMIM:261740
Neurofibromatosis Type 1	Slender long bone, Abnormal hip bone morphology, Genu valgum, Hydrocephalus, Genu varum	ORPHA:636
Cryptococcosis	Hydrocephalus	ORPHA:1546
Fraser Syndrome 2	Cutaneous syndactyly	OMIM:617666
Histiocytoid Cardiomyopathy	Hydrocephalus	ORPHA:137675
Biliary, Renal, Neurologic, And Skeletal Syndrome	Broad thumb, Lateral ventricle dilatation, Polydactyly, Broad first metatarsal, Postaxial polydac...	OMIM:619534
Alobar Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Hip dislocation, Neural tube defect	ORPHA:220386
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin...	ORPHA:110
Full Nf2-Related Schwannomatosis	Myelopathy, Hydrocephalus	ORPHA:637
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger	ORPHA:2136
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Genu valgum, Hydrocephalus, Large hands	ORPHA:363700
Lymphangioleiomyomatosis	Hydrocephalus	ORPHA:538
Fraser Syndrome	Toe syndactyly, Finger syndactyly, Myelomeningocele, Wide pubic symphysis, Encephalocele, Limb un...	ORPHA:2052
Meningioma	Hydrocephalus	ORPHA:2495
Microphthalmia With Linear Skin Defects Syndrome	Hydrocephalus	ORPHA:2556
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Hip dysplasia	ORPHA:580
Gaucher Disease	Ventriculomegaly, Hydrocephalus	ORPHA:355
Proteus Syndrome	Macrodactyly, Finger syndactyly, Abnormality of the wrist, Sirenomelia, Metatarsus valgus, Hallux...	ORPHA:744
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Toe clinodactyly, Cutaneous syndactyly, Sandal gap, Long fingers	OMIM:620330
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad hallux, Lateral ventricle dilatation, Long hallux, Genu valgum, Arachnodactyly, Long toe, H...	ORPHA:261537
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Hydrocephalus	OMIM:253280
Mowat-Wilson Syndrome	Ventriculomegaly, Broad hallux, Genu valgum, Long toe, Hallux valgus, Syndactyly, Adducted thumb,...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad hallux, Lateral ventricle dilatation, Long hallux, Genu valgum, Arachnodactyly, Long toe, H...	ORPHA:261552
Tuberous Sclerosis Complex	Subependymal nodules, Noncommunicating hydrocephalus	ORPHA:805
Microphthalmia, Syndromic 1	Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger...	OMIM:309800
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Craniofacial Microsomia 1	Hydrocephalus, Genu valgum, Occipital encephalocele, Partial duplication of thumb phalanx	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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