Simpson-Golabi-Behmel syndrome type 1

Definition

Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.

Also known as bulldog syndrome, GPC3 Simpson-Golabi-Behmel syndrome, SGBS1, Simpson dysmorphia syndrome, Simpson-Golabi-Behmel syndrome caused by mutation in GPC3, Simpson-Golabi-Behmel syndrome, type 1, X-linked recessive — per MONDO

Also identified as

• DOID 0060248 per MONDO
• OMIM 312870 per MONDO
• UMLS C0796154 per MONDO