Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline

Preferred Label : Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline;

Symbol : CONATOC;

CISMeF acronym : CONATOC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 44, member 1 gene (SLC44A1, 606105.0001);

Prefixed ID : #618868;

Details

Origin ID

618868;

UMLS CUI

C5394335;

Genes related to phenotype
- Solute carrier family 44, member 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bowel incontinence [HPO term]
- Cerebellar atrophy [HPO term]
- Clonus [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Globus pallidus hypointensity on susceptibility-weighted imaging [HPO term]
- Mental deterioration [HPO term]
- Optic atrophy [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Prolonged neonatal jaundice [HPO term]
- Slow saccadic eye movements [HPO term]
- Strabismus [HPO term]
- Substantia nigra hypointensity on susceptibility-weighted imaging [HPO term]
- Urinary incontinence [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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