congenital generalized lipodystrophy type 4 (DOID:0111138)
Alliance: disease page
Synonyms: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; congenital generalised lipodystrophy type 4; generalised congenital lipodystrophy type 4; generalised congenital lipodystrophy with myopathy; generalized congenital lipodystrophy type 4; generalized congenital lipodystrophy with myopathy
Alt IDs: OMIM:613327, ICD10CM:E88.1, ORDO:228429
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.