Spastic paraplegia 85, autosomal recessive

Preferred Label : Spastic paraplegia 85, autosomal recessive;

Symbol : SPG85;

Type : Phenotype, molecular basis known;

Prefixed ID : #619686;

Details

Origin ID

619686;

UMLS CUI

C5562053;

Genes related to phenotype
- Ring finger protein 170 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Brisk reflexes [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Generalized amyotrophy [HPO term]
- Impaired proprioception [HPO term]
- Impaired tactile sensation [HPO term]
- Impaired temperature sensation [HPO term]
- Impaired vibratory sensation [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Motor delay [HPO term]
- Optic atrophy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Saccadic smooth pursuit [HPO term]
- Spastic paraplegia [HPO term]
- Torticollis [HPO term]
- Upper limb spasticity [HPO term]
- Urinary incontinence [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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