Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:MPPH
|
| gptkbp:affects |
brain development
limb development |
| gptkbp:cause |
mutation in AKT3 gene
mutation in CCND2 gene mutation in PIK3R2 gene |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
2012
|
| gptkbp:fullName |
gptkb:Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome
|
| https://www.w3.org/2000/01/rdf-schema#label |
MPPH syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
603387
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
hydrocephalus
megalencephaly polydactyly polymicrogyria |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_(MPPH)
gptkb:Megalencephaly,_Polymicrogyria,_Polydactyly,_Hydrocephalus_Syndrome gptkb:megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome |
| gptkbp:bfsLayer |
7
|