Spinocerebellar ataxia, autosomal recessive 28

Preferred Label : Spinocerebellar ataxia, autosomal recessive 28;

Symbol : SCAR28;

CISMeF acronym : SCAR28;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tRNA-histidine guanylyltransferase 1-like protein gene (THG1L, 618802.0001);

Prefixed ID : #618800;

Details

Origin ID

618800;

UMLS CUI

C5394101;

Genes related to phenotype
- Trna-histidine guanylyltransferase 1-like protein [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Impaired smooth pursuit [HPO term]
- Intellectual disability, mild [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Optic atrophy [HPO term]
- Poor fine motor coordination [HPO term]
- Short stature [HPO term]
- Strabismus [HPO term]
- Truncal titubation [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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