megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH)
URI: https://gptkb.org/entity/megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_(MPPH)
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:MPPH_syndrome
|
| gptkbp:characterizedBy |
hydrocephalus
megalencephaly polydactyly polymicrogyria |
| gptkbp:firstDescribed |
2012
|
| https://www.w3.org/2000/01/rdf-schema#label |
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH)
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:CCND2_gene
gptkb:AKT3_gene gptkb:PIK3R2_gene |
| gptkbp:OMIM |
603387
|
| gptkbp:symptom |
epilepsy
intellectual disability developmental delay |
| gptkbp:bfsParent |
gptkb:PIK3R2_(p85β)
|
| gptkbp:bfsLayer |
6
|