Ontology highlight
ABSTRACT:
SUBMITTER: Almeqdadi M
PROVIDER: S-EPMC5881453 | biostudies-other | 2018 Mar
REPOSITORIES: biostudies-other
The American journal of case reports 20180325
BACKGROUND Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive genetic condition that was first described in 1983. Since its original description, approximately 50 cases have been reported with various clinical signs and symptoms. Characteristics include progressive neurologic deterioration with extrapyramidal involvement and polyendocrinopathy most notable for hypogonadism starting in early adolescence. Clinical presentation is variable, and a subset of patients may have additional fe ...[more]