Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome
GPTKB entity
Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
gptkb:MPPH_syndrome
|
| gptkbp:causedBy |
mutation in AKT3 gene
mutation in CCND2 gene mutation in PIK3R2 gene |
| gptkbp:firstDescribed |
2012
|
| gptkbp:hasFeature |
epilepsy
intellectual disability developmental delay macrocephaly overgrowth cortical malformations |
| https://www.w3.org/2000/01/rdf-schema#label |
Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome
|
| gptkbp:inheritance |
autosomal dominant
sporadic |
| gptkbp:OMIM |
615937
|
| gptkbp:symptom |
hydrocephalus
megalencephaly polydactyly polymicrogyria |
| gptkbp:treatment |
supportive care
seizure management surgical intervention for hydrocephalus |
| gptkbp:bfsParent |
gptkb:MGLN
|
| gptkbp:bfsLayer |
6
|