Neurodevelopmental disorder with involuntary movements

Preferred Label : Neurodevelopmental disorder with involuntary movements;

Symbol : NEDIM;

CISMeF acronym : NEDIM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the guanine nucleotide-binding protein, alpha-activating activity polypeptide O gene (GNAO1, 139311.0005);

Prefixed ID : #617493;

Détails

Origin ID

617493;

UMLS CUI

C4479569;

Genes related to phenotype
- Guanine nucleotide-binding protein, alpha-activating activity polypeptide o [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Athetosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Chorea [HPO term]
- Dyskinesia [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyperkinetic movements [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Involuntary movements [HPO term]
- Microcephaly [HPO term]
- Orofacial dyskinesia [HPO term]
- Poor head control [HPO term]
- Seizure [HPO term]
- Self-injurious behavior [HPO term]
- Spasticity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Early infantile epileptic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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