Van Maldergem syndrome 2

Definition

Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.

Also known as FAT4 van Maldergem syndrome, van Maldergem syndrome 2, van Maldergem syndrome caused by mutation in FAT4, Van Maldergem syndrome type 2 — per MONDO

Also identified as

• DOID 0080586 per MONDO
• OMIM 615546 per MONDO
• UMLS C3809875 per MONDO