WOODHOUSE-SAKATI SYNDROME

HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME

http://purl.bioontology.org/ontology/OMIM/241080

HYPOGONADISM, ALOPECIA, DIABETES MELLITUS, MENTAL RETARDATION, DEAFNESS, AND EXTRAPYRAMIDAL SYNDROME

WDSKS

EXTRAPYRAMIDAL DISORDER, PROGRESSIVE, WITH PRIMARY HYPOGONADISM, MENTAL RETARDATION, AND ALOPECIA

C0342286

2q22.3-q35

DCAF17

C20orf37

http://purl.bioontology.org/ontology/OMIM/MTHU037282

http://purl.bioontology.org/ontology/OMIM/MTHU020709

http://purl.bioontology.org/ontology/OMIM/MTHU002598

http://purl.bioontology.org/ontology/OMIM/MTHU020705

http://purl.bioontology.org/ontology/OMIM/MTHU020702

http://purl.bioontology.org/ontology/OMIM/MTHU020700

http://purl.bioontology.org/ontology/OMIM/MTHU020708

http://purl.bioontology.org/ontology/OMIM/MTHU020698

http://purl.bioontology.org/ontology/OMIM/MTHU020711

http://purl.bioontology.org/ontology/OMIM/MTHU009963

http://purl.bioontology.org/ontology/OMIM/MTHU020713

http://purl.bioontology.org/ontology/OMIM/MTHU020704

http://purl.bioontology.org/ontology/OMIM/MTHU036798

http://purl.bioontology.org/ontology/OMIM/MTHU001254

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU067633

http://purl.bioontology.org/ontology/OMIM/MTHU001903

http://purl.bioontology.org/ontology/OMIM/MTHU020697

http://purl.bioontology.org/ontology/OMIM/MTHU002910

http://purl.bioontology.org/ontology/OMIM/MTHU000577

http://purl.bioontology.org/ontology/OMIM/MTHU007202

http://purl.bioontology.org/ontology/OMIM/MTHU000132

http://purl.bioontology.org/ontology/OMIM/MTHU000816

http://purl.bioontology.org/ontology/OMIM/MTHU000818

http://purl.bioontology.org/ontology/OMIM/MTHU020703

http://purl.bioontology.org/ontology/OMIM/MTHU004437

http://purl.bioontology.org/ontology/OMIM/MTHU020707

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU002043

http://purl.bioontology.org/ontology/OMIM/MTHU036401

http://purl.bioontology.org/ontology/OMIM/MTHU020706

http://purl.bioontology.org/ontology/OMIM/MTHU003211

http://purl.bioontology.org/ontology/OMIM/MTHU020701

http://purl.bioontology.org/ontology/OMIM/MTHU007248

http://purl.bioontology.org/ontology/OMIM/MTHU020710

http://purl.bioontology.org/ontology/OMIM/MTHU020699

http://purl.bioontology.org/ontology/OMIM/MTHU020712

Phenotype description, molecular basis known.

601164

241080

3

pound

WOODHOUSE-SAKATI SYNDROME

Onset of other symptoms in adolescence or early adulthood [MISCELLANEOUS]

Patients do not have clinical hypothyroidism [MISCELLANEOUS]

Onset of mental impairment in early childhood [MISCELLANEOUS]

Caused by mutation in the DDB1- and CUL4-associated factor 17 gene (DCAF17, 612515.0001) [MOLECULAR BASIS]

Variable phenotype [MISCELLANEOUS]

T047