Congenital generalized lipodystrophy type 4

Definition

Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAVIN1 gene.

Also known as BSCL4, CAVIN1 congenital generalised lipodystrophy (disease), CAVIN1 congenital generalized lipodystrophy (disease), CGL4, congenital generalised lipodystrophy (disease) caused by mutation in CAVIN1, congenital generalized lipodystrophy (disease) caused by mutation in CAVIN1, GCL4 — per MONDO

Also identified as

• DOID 0111138 per MONDO
• MESH C567642 per MONDO
• OMIM 613327 per MONDO
• Orphanet 228429 per MONDO
• UMLS C2750069 per MONDO