congenital generalized lipodystrophy type 2 (DOID:0111136)
Alliance: disease page
Synonyms: Berardinelli-Seip congenital lipodystrophy type 2; Berardinelli-Seip syndrome; Brunzell syndrome BSCL2-related; CGL2; congenital lipoatrophic diabetes; total lipodystrophy and acromegaloid gigantism
Alt IDs: OMIM:269700, ICD10CM:E88.1
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3.