SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/816067005
http://purl.bioontology.org/ontology/SNOMEDCT/816067005
Preferred Name

Woodhouse Sakati syndrome

Definitions
Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner.
Synonyms
Diabetes, hypogonadism, deafness, intellectual disability syndrome (disorder)
Diabetes, hypogonadism, deafness, intellectual disability syndrome
Type http://www.w3.org/2002/07/owl#Class
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