Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements

Preferred Label : Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements;

Symbol : NEDHAHM;

CISMeF acronym : NEDHAHM;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the vesicle-associated membrane protein 2 gene (VAMP2, 185881.0001);

Prefixed ID : #618760;

Details

Origin ID

618760;

UMLS CUI

C5231491;

Genes related to phenotype
- Vesicle-associated membrane protein 2 [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Behavioral abnormality [HPO term]
- Cerebral visual impairment [HPO term]
- Chorea [HPO term]
- Convulsive status epilepticus [HPO term]
- Dystonia [HPO term]
- EEG abnormality [HPO term]
- Focal-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inability to walk [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Self-injurious behavior [HPO term]
- Stereotypical hand wringing [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