Intellectual developmental disorder, X-linked, syndromic, wu type

Preferred Label : Intellectual developmental disorder, X-linked, syndromic, wu type;

Symbol : MRXSW;

CISMeF acronym : MRXSW; MRXS29; MRX94;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX94; Mental retardation, X-linked, syndromic 29; MRXS29; Mental retardation, X-linked 94;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the glutamate receptor, ionotropic, AMPA, 3 gene (GRIA3, 305915.0001);

Prefixed ID : #300699;

Détails

Origin ID

300699;

UMLS CUI

C2678051;

Automatic exact mappings (from CISMeF team)
- GRIA3 wt Allele [NCIt concept]
- X-linked intellectual disability due to GRIA3 mutations [ORDO Disease]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- glutamate ionotropic receptor AMPA type subunit 3 [ORDO Gene]
- mental retardation, X-Linked 94 [MeSH concept]
- mental retardation, X-Linked 94 [MeSH Supplementary Concept]
- syndromic X-linked intellectual disability 94 [DO Concept]
DO Cross reference
- syndromic X-linked intellectual disability 94 [DO Concept]
Genes related to phenotype
- Glutamate receptor, ionotropic, ampa 3 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Autism [HPO term]
- Autistic behavior [HPO term]
- Brachycephaly [HPO term]
- Deeply set eye [HPO term]
- Distal muscle weakness [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Macrocephaly [HPO term]
- Myoclonus [HPO term]
- Prominent supraorbital ridges [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Short stature [HPO term]
- Slender build [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked intellectual disability due to GRIA3 mutations [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 94 [MeSH Supplementary Concept]
- mental retardation, X-Linked 94 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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