Details of Disease | DrugMAP

General Information of Disease (ID: DISXI0AF)

Disease Name	Syndromic X-linked intellectual disability Raymond type
Synonyms	intellectual disability, X-linked, syndromic, Raymond type; mental retardation, X-linked, syndromic, Raymond type; MRXSR; mental retardation, X-linked syndromic, Raymond type; intellectual disability, X-linked syndromic, Raymond type; 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.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISXI0AF: Syndromic X-linked intellectual disability Raymond type
Disease Identifiers	MONDO ID MONDO_0010427 UMLS CUI C3275406 OMIM ID 300799 MedGen ID 477037

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ZDHHC9	OTHZT92J	Definitive	X-linked	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.