Cognitive impairment with or without cerebellar ataxia

Preferred Label : Cognitive impairment with or without cerebellar ataxia;

Symbol : CIAT;

CISMeF acronym : CIAT;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the voltage-gated sodium channel, type VIII, alpha subunit gene (SCN8A, 600702.0001);

Prefixed ID : #614306;

Details

Origin ID

614306;

UMLS CUI

C3280415;

Automatic exact mappings (from CISMeF team)
- sodium voltage-gated channel alpha subunit 8 [ORDO Gene]
- sodium voltage-gated channel alpha subunit 8 [HGNC gene]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 8 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Ataxia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cognitive impairment [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Emotional lability [HPO term]
- Esophoria [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Optic nerve hypoplasia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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