Seckel syndrome 2

Definition

Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene.

Also known as microcephalic primordial dwarfism 2, RBBP8 Seckel syndrome, SCKL2, Seckel syndrome 2, Seckel syndrome caused by mutation in RBBP8, Seckel syndrome type 2, Seckel-type dwarfism 2 — per MONDO

Also identified as

• DOID 0070013 per MONDO
• MESH C537534 per MONDO
• OMIM 606744 per MONDO
• UMLS C1847572 per MONDO