Periventricular heterotopia with microcephaly, autosomal recessive

Preferred Label : Periventricular heterotopia with microcephaly, autosomal recessive;

Symbol : ARPHM;

CISMeF acronym : ARPHM; PVNH2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Periventricular nodular heterotopia 2; PVNH2; Heterotopia, periventricular, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ADP-ribosylation factor guanine nucleotide exchange factor 2 gene (ARFGEF2, 605371.0001);

Prefixed ID : #608097;

Détails

Origin ID

608097;

UMLS CUI

C1842563;

Automatic exact mappings (from CISMeF team)
- Nodular neuronal heterotopia [ORDO Disease]
- Periventricular nodular heterotopia [ORDO Disease]
Broader ORDO disease(s)
- Nodular neuronal heterotopia [ORDO Disease]
Currated CISMeF NLP mapping
- heterotopia, periventricular, autosomal recessive [MeSH concept]
- heterotopia, periventricular, autosomal recessive [MeSH Supplementary Concept]
- periventricular nodular heterotopia 2 [Disease (Nov.)]
DO Cross reference
- periventricular nodular heterotopia [DO Concept]
Genes related to phenotype
- Adp-ribosylation factor guanine nucleotide exchange factor 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Hypsarrhythmia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Periventricular heterotopia [HPO term]
- Periventricular nodular heterotopia [HPO term]
- Poor eye contact [HPO term]
- Progressive microcephaly [HPO term]
- Seizure [HPO term]
- Tetraparesis [HPO term]
ORDO concept(s)
- Nodular neuronal heterotopia [ORDO Disease]
- Periventricular nodular heterotopia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- heterotopia, periventricular, autosomal recessive [MeSH Supplementary Concept]
- heterotopia, periventricular, autosomal recessive [MeSH concept]
- periventricular nodular heterotopia 2 [Disease (Nov.)]

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