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Intellectual Disability, X-Linked 1 (MONDO:0010656)

An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.

Overview

Category

nervous system disorder

Ontology ID

MONDO:0010656

Internal:11802

Synonyms

IQSEC2-related disorder

IQSEC2-related syndromic intellectual disability

MRX

MRX1

MRX78

intellectual developmental disorder, X-linked 1, X-linked dominant

intellectual disability, X-linked 1

mental retardation, X-linked 1

mental retardation, X-linked 18

mental retardation, X-linked 78

mental retardation, X-linked type 1

IQSEC2

IQSEC2-related epilepsy

IQSEC2-related intellectual disability

X-linked intellectual disability 1

X-linked intellectual disability 1/78

X-linked intellectual disability 78

severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

Mapped terms

DOID:0112038

GARD:0022699

MEDGEN:444070

MESH:C564489

MESH:C567906

NCIT:C133729

OMIM:309530

Orphanet:397933

UMLS:C2931498

Child terms

Unknown children.

Results

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