Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutation in PIK3CA gene
|
| gptkbp:frequency |
rare
|
| https://www.w3.org/2000/01/rdf-schema#label |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
603387
|
| gptkbp:onset |
congenital
|
| gptkbp:otherName |
gptkb:MPPH_syndrome
|
| gptkbp:symptom |
hydrocephalus
megalencephaly polydactyly polymicrogyria |
| gptkbp:bfsParent |
gptkb:phosphoinositide-3-kinase_regulatory_subunit_2
|
| gptkbp:bfsLayer |
7
|