porencephaly-cerebellar hypoplasia-internal malformations syndrome
Findings
No curated finding names porencephaly-cerebellar hypoplasia-internal malformations syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.
Definition from the Mondo Disease Ontology (MONDO:0011036), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: porencephaly-cerebellar hypoplasia-internal malformations syndrome
- Also called
- Bonnemann-Meinecke syndrome