Intellectual developmental disorder, X-linked 63

Preferred Label : Intellectual developmental disorder, X-linked 63;

Symbol : XLID63;

CISMeF acronym : MRX63; MRX68;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 68; MRX68; MRX63; Mental retardation, X-linked 63;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the acyl-CoA synthetase long-chain family member 4 gene (ACSL4, 300157.0001);

Laboratory abnormalities : Female carriers show skewed X inactivation in leukocytes;

Prefixed ID : #300387;

Details

Origin ID

300387;

UMLS CUI

C1845672;

Currated CISMeF NLP mapping
- mental retardation, X-Linked 63 [MeSH concept]
- mental retardation, X-Linked 63 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 63 [DO Concept]
Genes related to phenotype
- Acyl-coa synthetase long chain family, member 4 [OMIM gene]
HPO term(s)
- Anxiety [HPO term]
- Autistic behavior [HPO term]
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- Hyperreflexia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 63 [MeSH Supplementary Concept]
- mental retardation, X-Linked 63 [MeSH concept]

Keyword's position in hierarchy(ies) :

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