Deafness, congenital, and adult-onset progressive leukoencephalopathy

Preferred Label : Deafness, congenital, and adult-onset progressive leukoencephalopathy;

Symbol : DEAPLE;

Type : Phenotype, molecular basis known;

Prefixed ID : #619196;

Détails

Origin ID

619196;

UMLS CUI

C5543087;

Genes related to phenotype
- Lysyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cognitive impairment [HPO term]
- Dystonia [HPO term]
- Elevated brain lactate level by MRS [HPO term]
- Hearing impairment [HPO term]
- Hypointensity of cerebral white matter on MRI [HPO term]
- Increased serum lactate [HPO term]
- Leukodystrophy [HPO term]
- Mental deterioration [HPO term]
- Motor delay [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Profound sensorineural hearing impairment [HPO term]
- Progressive neurologic deterioration [HPO term]
- Progressive visual loss [HPO term]
- Sensorineural hearing impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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