megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
gptkb:nervous_system
|
| gptkbp:causedBy |
mutation in AKT3 gene
mutation in PIK3R2 gene mutation in PIK3CA gene |
| https://www.w3.org/2000/01/rdf-schema#label |
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
|
| gptkbp:ICD-10_code |
Q04.8
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:otherName |
gptkb:MPPH_syndrome
|
| gptkbp:symptom |
hydrocephalus
megalencephaly polydactyly polymicrogyria |
| gptkbp:bfsParent |
gptkb:PIK3R2
|
| gptkbp:bfsLayer |
6
|