Seckel syndrome 1

Definition

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

Also known as ATR Seckel syndrome, SCKL1, Seckel syndrome 1, Seckel syndrome 3, Seckel syndrome caused by mutation in ATR, Seckel syndrome type 1 — per MONDO

Also identified as

• DOID 0070007 per MONDO
• OMIM 210600 per MONDO
• UMLS C4551474 per MONDO