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Intellectual Disability, X-Linked 102 (MONDO:0010497)

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0010497

Internal:11655

Synonyms

DDX3X non-syndromic X-linked intellectual disability

intellectual developmental disorder, X-linked, syndrome, Snijders Blok type, X-linked recessive, X-linked dominant

intellectual disability, X-linked 102

intellectual disability, X-linked type 102

mental retardation, X-linked type 102

non-syndromic X-linked intellectual disability caused by mutation in DDX3X

DDX3X-related intellectual disability

MRX102

mental retardation, X-linked 102

Mapped terms

GARD:0024730

MEDGEN:1715418

NCIT:C129931

OMIM:300958

UMLS:C5393299

Child terms

Unknown children.

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