Spinocerebellar ataxia, autosomal recessive 31

Preferred Label : Spinocerebellar ataxia, autosomal recessive 31;

Symbol : SCAR31;

Type : Phenotype, molecular basis known;

Prefixed ID : #619422;

Details

Origin ID

619422;

UMLS CUI

C5543627;

Genes related to phenotype
- Autophagy-related 7 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural hearing impairment [HPO term]
- Bruxism [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Choreoathetosis [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Death in childhood [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Encephalopathy [HPO term]
- External ophthalmoplegia [HPO term]
- Feeding difficulties [HPO term]
- Gingival overgrowth [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- Infantile onset [HPO term]
- Long face [HPO term]
- Lumbar kyphoscoliosis [HPO term]
- Muscle weakness [HPO term]
- Nasal speech [HPO term]
- Optic atrophy [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Posterior atrophy of corpus callosum [HPO term]
- Ptosis [HPO term]
- Retinopathy [HPO term]
- Retrognathia [HPO term]
- Schizophrenia [HPO term]
- Seizure [HPO term]
- Self-mutilation [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Tremor [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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