Hypogonadotropic hypogonadism idiopathicGene: DCAF17
Syndromic presentation with a combination of hypogonadism, partial alopecia, diabetes mellitus, mental retardation, and deafness. Appears rare recessive and frequently associated with consanguinity.
Created: 22 Mar 2019, 5:03 p.m.
Gene: dcaf17 has been classified as Amber List (Moderate Evidence).
Source Wessex and West Midlands GLH was added to DCAF17.
Added phenotypes Woodhouse-Sakati syndrome (OMIM 241080) for gene: DCAF17
gene: DCAF17 was added gene: DCAF17 was added to Hypogonadotropic hypogonadism idiopathic. Sources: South West GLH,NHS GMS Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal