Intellectual developmental disorder, autosomal dominant 34

Preferred Label : Intellectual developmental disorder, autosomal dominant 34;

Symbol : MRD34;

CISMeF acronym : MRD34;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 34;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the COL4A3-binding protein gene (COL4A3BP, 604677.0001);

Prefixed ID : #616351;

Details

Origin ID

616351;

UMLS CUI

C4225156;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 34 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 34 [DO Concept]
Genes related to phenotype
- Ceramide transporter 1 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Anteverted nares [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bilateral ptosis [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Broad-based gait [HPO term]
- Bruxism [HPO term]
- Cerebral visual impairment [HPO term]
- Coarse hair [HPO term]
- Curly hair [HPO term]
- Drooling [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
- Myopathic facies [HPO term]
- Oligohydramnios [HPO term]
- Secondary microcephaly [HPO term]
- Short foot [HPO term]
- Smooth philtrum [HPO term]
- Synophrys [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide intermamillary distance [HPO term]
- Widely spaced teeth [HPO term]
See also inter- (CISMeF)
- CERT1 wt Allele [NCIt concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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