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Woodhouse-Sakati syndrome

Synonyms
Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabete; Extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia; Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome; Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities; Progressive extrapyramidal disorder with primary hypogonadism and alopecia; Woodhouse and Sakati syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine findings of hypogonadism (evident at puberty) and progressive childhood-onset hair thinning that often progresses to alopecia totalis in adulthood. More than half of individuals have the neurologic findings of progressive extrapyramidal movements (dystonic spasms with dystonic posturing with dysarthria and dysphagia), moderate bilateral postlingual sensorineural hearing loss, and mild intellectual disability. To date, more than 40 families (including 33 with a molecularly confirmed diagnosis) with a total of 88 affected individuals have been reported in the literature. [from GeneReviews]

Available tests

34 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C20orf37, C2orf37, DCAF17
    Summary: DDB1 and CUL4 associated factor 17

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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