Neurodevelopmental disorder with dystonia and seizures

Preferred Label : Neurodevelopmental disorder with dystonia and seizures;

Symbol : NEDDS;

Type : Phenotype, molecular basis known;

Prefixed ID : #619922;

Details

Origin ID

619922;

UMLS CUI

C5677004;

Genes related to phenotype
- Shq1, h/aca ribonucleoprotein assembly factor [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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