Spastic paraplegia 82, autosomal recessive

Preferred Label : Spastic paraplegia 82, autosomal recessive;

Symbol : SPG82;

CISMeF acronym : SPG82;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phosphate cytidylyltransferase 2, ethanolamine gene (PCYT2, 602679.0001);

Prefixed ID : #618770;

Details

Origin ID

618770;

UMLS CUI

C5394037;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 82 [ORDO Disease]
Genes related to phenotype
- Phosphate cytidylyltransferase 2, ethanolamine [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Bilateral tonic-clonic seizure with generalized onset [HPO term]
- Cerebral atrophy [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Developmental regression [HPO term]
- Focal-onset seizure [HPO term]
- Hyperreflexia [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Reduced visual acuity [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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