Intellectual developmental disorder, X-linked 90

Preferred Label : Intellectual developmental disorder, X-linked 90;

Symbol : XLID90;

CISMeF acronym : MRX90;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 90; MRX90;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the discs large MAGUK scaffold protein 3 gene (DLG3, 300189.0001);

Prefixed ID : #300850;

Details

Origin ID

300850;

UMLS CUI

C3275443;

Automatic exact mappings (from CISMeF team)
- X-linked non-syndromic intellectual disability [ORDO Disease]
- discs large MAGUK scaffold protein 3 [ORDO Gene]
- discs large MAGUK scaffold protein 3 [HGNC gene]
- non-syndromic X-linked intellectual disability 90 [DO Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 90 [DO Concept]
Genes related to phenotype
- Discs large maguk scaffold protein 3 [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Bifid uvula [HPO term]
- Delayed speech and language development [HPO term]
- Enuresis [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Malar flattening [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
- Upslanted palpebral fissure [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients