Developmental and epileptic encephalopathy 104

Preferred Label : Developmental and epileptic encephalopathy 104;

Symbol : DEE104;

Type : Phenotype, molecular basis known;

Prefixed ID : #619970;

Details

Origin ID

619970;

UMLS CUI

C5774183;

Genes related to phenotype
- Atpase, h+ transporting, lysosomal, v0 subunit a1 [OMIM gene]
ORDO concept(s)
- Non-specific early-onset epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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