Developmental and epileptic encephalopathy 61

Preferred Label : Developmental and epileptic encephalopathy 61;

Symbol : DEE61;

CISMeF acronym : EIEE61;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EIEE61; Epileptic encephalopathy, early infantile, 61;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADAM metallopeptidase domain 22 gene (ADAM22, 603709.0001);

Prefixed ID : #617933;

Details

Origin ID

617933;

UMLS CUI

C4693688;

Currated CISMeF NLP mapping
- developmental and epileptic encephalopathy 61 [DO Concept]
DO Cross reference
- developmental and epileptic encephalopathy 61 [DO Concept]
Genes related to phenotype
- A disintegrin and metalloproteinase domain 22 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Epileptic encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- High palate [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, profound [HPO term]
- Narrow forehead [HPO term]
- Open mouth [HPO term]
- Optic atrophy [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Thick vermilion border [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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