Intellectual developmental disorder, autosomal dominant 42

Preferred Label : Intellectual developmental disorder, autosomal dominant 42;

Symbol : MRD42;

CISMeF acronym : MRD42;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 42;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, beta-1 gene (GNB1, 139380.0001);

Prefixed ID : #616973;

Details

Origin ID

616973;

UMLS CUI

C4310774;

Automatic exact mappings (from CISMeF team)
- GNB1 wt Allele [NCIt concept]
- autosomal dominant non-syndromic intellectual disability 42 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 42 [DO Concept]
Genes related to phenotype
- Guanine nucleotide-binding protein, beta-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Cleft palate [HPO term]
- EEG abnormality [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hydronephrosis [HPO term]
- Impaired smooth pursuit [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Limb hypertonia [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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