Term Name: | congenital generalized lipodystrophy type 4 |
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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 ) |