Cerebellar atrophy, developmental delay, and seizures

Preferred Label : Cerebellar atrophy, developmental delay, and seizures;

Symbol : CADEDS;

CISMeF acronym : CADEDS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the calcium-activated large conductance potassium channel subfamily M, alpha member 1 gene (KCNMA1, 600150.0004);

Prefixed ID : #617643;

Détails

Origin ID

617643;

UMLS CUI

C4539985;

Genes related to phenotype
- Potassium channel, calcium-activated, large conductance, subfamily M, alpha member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure with focal onset [HPO term]
- Cerebellar atrophy [HPO term]
- EEG abnormality [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Infantile onset [HPO term]
- Poor speech [HPO term]
- Seizure [HPO term]
- Variable expressivity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients