Intellectual developmental disorder, autosomal dominant 38

Preferred Label : Intellectual developmental disorder, autosomal dominant 38;

Symbol : MRD38;

CISMeF acronym : MRD38; PRELDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Psychomotor retardation, epilepsy, and language disability syndrome; PRELDS; Mental retardation, autosomal dominant 38;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the eukaryotic translation elongation factor 1, alpha-2 gene (EEF1A2, 602959.0002);

Prefixed ID : #616393;

Details

Origin ID

616393;

UMLS CUI

C4225343;

Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 38 [DO Concept]
DO Cross reference
- autosomal dominant non-syndromic intellectual disability 38 [DO Concept]
Genes related to phenotype
- Eukaryotic translation elongation factor 1, alpha-2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased head circumference [HPO term]
- Deeply set eye [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Epicanthus [HPO term]
- Everted lower lip vermilion [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Low-set ears [HPO term]
- Neonatal hypotonia [HPO term]
- Seizure [HPO term]
- Tented upper lip vermilion [HPO term]
ORDO concept(s)
- Autosomal dominant non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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