NF1, neurofibromin 1, 4763

N. diseases: 380; N. variants: 935
Disease: Woodhouse Sakati syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342286
Disease: Woodhouse Sakati syndrome
Woodhouse Sakati syndrome 		0.010 GeneticVariation disease BEFREE Woodhouse Sakati syndrome (WSS, MIM 241080) is a rare autosomal recessive genetic condition characterized by alopecia, hypogonadism, hearing impairment, diabetes mellitus, learning disabilities and extrapydamidal manifestations. 26612766 2016