Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset

Preferred Label : Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset;

Symbol : NADGP;

CISMeF acronym : NADGP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sequestosome 1 gene (SQSTM1, 601530.0008);

Prefixed ID : #617145;

Détails

Origin ID

617145;

UMLS CUI

C4310693;

Genes related to phenotype
- Sequestosome 1 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dyskinesia [HPO term]
- Dysmetria [HPO term]
- Dystonia [HPO term]
- Gait ataxia [HPO term]
- Gait disturbance [HPO term]
- Hearing impairment [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hyperreflexia [HPO term]
- Limb ataxia [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Progressive [HPO term]
- Tremor [HPO term]
- Urinary incontinence [HPO term]
- Vertical supranuclear gaze palsy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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