Cole-Carpenter syndrome 2

Definition

Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene.

Also known as Cole-Carpenter syndrome 2, Cole-Carpenter syndrome caused by mutation in SEC24D, Cole-Carpenter syndrome type 2, SEC24D Cole-Carpenter syndrome — per MONDO

Also identified as

• OMIM 616294 per MONDO
• UMLS C4225382 per MONDO