Lethal congenital contracture syndrome 7

Definition

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene.

Also known as CNTNAP1 lethal congenital contracture syndrome, lethal congenital contracture syndrome 7, lethal congenital contracture syndrome caused by mutation in CNTNAP1, lethal congenital contracture syndrome type 7 — per MONDO

Also identified as

• DOID 0061263 per MONDO
• OMIM 616286 per MONDO
• UMLS C4225386 per MONDO