Developmental and epileptic encephalopathy 29

Preferred Label : Developmental and epileptic encephalopathy 29;

Symbol : DEE29;

CISMeF acronym : EIEE29;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE29; Epileptic encephalopathy, early infantile, 29;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alanyl-tRNA synthetase 1 gene (AARS1, 601065.0003);

Prefixed ID : #616339;

Details

Origin ID

616339;

UMLS CUI

C4225361;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 29 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 29 [DO Concept]
Genes related to phenotype
- Alanyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharospasm [HPO term]
- CNS hypomyelination [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Congenital onset [HPO term]
- Epileptic encephalopathy [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Infantile onset [HPO term]
- Intrauterine growth retardation [HPO term]
- Limb dystonia [HPO term]
- Microcephaly [HPO term]
- Myoclonic seizure [HPO term]
- Nystagmus [HPO term]
- Orofacial dyskinesia [HPO term]
- Peripheral neuropathy [HPO term]
- Rocker bottom foot [HPO term]
- Short stature [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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