Periventricular nodular heterotopia 9

Preferred Label : Periventricular nodular heterotopia 9;

Symbol : PVNH9;

CISMeF acronym : PVNH9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microtubule-associated protein 1B gene (MAP1B, 157129.0001);

Prefixed ID : #618918;

Details

Origin ID

618918;

UMLS CUI

C5394503;

Genes related to phenotype
- Microtubule-associated protein 1b [OMIM gene]
HPO term(s)
- Attention deficit hyperactivity disorder [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Clinodactyly [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Delayed speech and language development [HPO term]
- Dyscalculia [HPO term]
- Dyslexia [HPO term]
- Epicanthus [HPO term]
- Everted upper lip vermilion [HPO term]
- Focal-onset seizure [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- High palate [HPO term]
- Hirsutism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic philtrum [HPO term]
- Intellectual disability [HPO term]
- Interictal epileptiform activity [HPO term]
- Microcephaly [HPO term]
- Microtia [HPO term]
- Mild global developmental delay [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Periventricular nodular heterotopia [HPO term]
- Pes cavus [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent metopic ridge [HPO term]
- Single transverse palmar crease [HPO term]
- Squared superior portion of helix [HPO term]
- Synophrys [HPO term]
- Tapered finger [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