Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

Preferred Label : Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits;

Symbol : SCA42ND;

CISMeF acronym : SCA42ND;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the calcium channel, voltage-dependent, T type, alpha-1G subunit gene (CACNA1G, 604065.0002);

Prefixed ID : #618087;

Details

Origin ID

618087;

UMLS CUI

C4748120;

Genes related to phenotype
- Calcium channel, voltage-dependent, t type, alpha-1g subunit [OMIM gene]
HPO term(s)
- Anteverted ears [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Clinodactyly [HPO term]
- Deeply set eye [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Global developmental delay [HPO term]
- Hirsutism [HPO term]
- Hypermetropia [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Inability to walk [HPO term]
- Intellectual disability [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Narrow palpebral fissure [HPO term]
- Oculomotor apraxia [HPO term]
- Poor head control [HPO term]
- Short nose [HPO term]
- Sparse hair [HPO term]
- Spasticity [HPO term]
- Strabismus [HPO term]
- Syndactyly [HPO term]
- Upslanted palpebral fissure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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