Lethal congenital contracture syndrome 4

Definition

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene.

Also known as lethal congenital contracture syndrome 4, lethal congenital contracture syndrome caused by mutation in MYBPC1, lethal congenital contracture syndrome type 4, MYBPC1 lethal congenital contracture syndrome — per MONDO

Also identified as

• DOID 0060654 per MONDO
• OMIM 614915 per MONDO
• UMLS C3554046 per MONDO