Periventricular nodular heterotopia 8

Preferred Label : Periventricular nodular heterotopia 8;

Symbol : PVNH8;

CISMeF acronym : PVNH8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ADP-ribosylation factor-1 gene (ARF1, 103180.0001);

Prefixed ID : #618185;

Details

Origin ID

618185;

UMLS CUI

C4748602;

Genes related to phenotype
- Adp-ribosylation factor 1 [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Delayed myelination [HPO term]
- Delayed speech and language development [HPO term]
- Microcephaly [HPO term]
- Periventricular nodular heterotopia [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Periventricular nodular heterotopia [ORDO Disease]
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