Myoclonus, intractable, neonatal

Preferred Label : Myoclonus, intractable, neonatal;

Symbol : NEIMY;

CISMeF acronym : NEIMY;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 5A gene (KIF5A, 602821.0011);

Prefixed ID : #617235;

Details

Origin ID

617235;

UMLS CUI

C4310658;

Genes related to phenotype
- Kinesin family member 5a [OMIM gene]
HPO term(s)
- Apnea [HPO term]
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Chorea [HPO term]
- Congenital onset [HPO term]
- Delayed myelination [HPO term]
- Developmental stagnation [HPO term]
- Dysphagia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Microcephaly [HPO term]
- Myoclonus [HPO term]
- Nystagmus [HPO term]
- Pallor [HPO term]
- Progressive leukoencephalopathy [HPO term]
- Ptosis [HPO term]
- Seizure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients