Intellectual developmental disorder, X-linked 29

Preferred Label : Intellectual developmental disorder, X-linked 29;

Symbol : XLID29;

CISMeF acronym : MRXARX; MRX29; MRX32; MRX33; MRX38; MRX43; MRX54; MRX76; MRX87;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 29; Mental retardation, X-linked 38; MRX33; MRX32; MRX43; MRX54; MRX76; MRX87; MRX38; Mental retardation, X-linked 32; Mental retardation, X-linked 43; Mental retardation, X-linked 54; Mental retardation, X-linked 76; Mental retardation, X-linked 87; Mental retardation, X-linked 33; MRX29; MRX52; Mental retardation, X-linked 52;

Description : ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (EIEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008).;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the aristaless-related homeobox, X-linked gene (ARX, 300382.0002);

Prefixed ID : #300419;

Details

Origin ID

300419;

UMLS CUI

C0796244;

Currated CISMeF NLP mapping
- mental retardation, X-Linked, with or without seizures, Arx-Related [MeSH concept]
- mental retardation, X-Linked, with or without seizures, Arx-Related [MeSH Supplementary Concept]
- non-syndromic X-linked intellectual disability ARX-related [DO Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability ARX-related [DO Concept]
Genes related to phenotype
- Aristaless-related homeobox, X-linked [OMIM gene]
HPO term(s)
- Babinski sign [HPO term]
- Drooling [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Long palpebral fissure [HPO term]
- Periorbital fullness [HPO term]
- Pes planus [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Testicular dysgenesis [HPO term]
- Urinary incontinence [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked, with or without seizures, Arx-Related [MeSH Supplementary Concept]
- mental retardation, X-Linked, with or without seizures, Arx-Related [MeSH concept]

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