Term Name: congenital generalized lipodystrophy type 4
Synonyms: Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy, Brunzell syndrome AGPAT2-related, 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
Definition: A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2.
Ontology: Human Disease [DOID:0111138]   ( DOID:0111138 )

Relationships
is a type of: congenital generalized lipodystrophy