Spinocerebellar ataxia, autosomal recessive 29

Preferred Label : Spinocerebellar ataxia, autosomal recessive 29;

Symbol : SCAR29;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodevelopmental disorder with hypotonia and cerebellar ataxia; Barakat-van ham-kaya syndrome; BAVAHAKA; NEDHCA;

Prefixed ID : #619389;

Details

Origin ID

619389;

UMLS CUI

C5543595;

Genes related to phenotype
- Vps41 subunit of hops complex [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Childhood onset [HPO term]
- Corpus callosum atrophy [HPO term]
- Dysarthria [HPO term]
- Generalized dystonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Iron accumulation in globus pallidus [HPO term]
- Iron accumulation in substantia nigra [HPO term]
- Lower limb spasticity [HPO term]
- Motor delay [HPO term]
- Myopathic facies [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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