Kleefstra syndrome 1

Definition

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.

Also known as Kleefstra syndrome 1 — per MONDO

Also identified as

• DOID 0060352 per MONDO
• DOID 0070075 per MONDO
• MESH C563043 per MONDO
• NCIT C129976 per MONDO
• OMIM 610253 per MONDO
• SCTID 724207001 per MONDO
• UMLS C0795833 per MONDO