Syndromic X-linked intellectual disability Raymond type

Definition

A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has material basis in mutation in the ZDHHC9 gene on chromosome Xq26.1.

Also known as intellectual disability, X-linked syndromic, Raymond type, MRXSR, syndromic X-linked intellectual disability Raymond type — per MONDO

Also identified as

• DOID 0060824 per MONDO
• OMIM 300799 per MONDO
• UMLS C3275406 per MONDO