nervous system disorder porencephaly-cerebellar hypoplasia-internal malformations syndrome https://www.malacards.org/card/porencephaly_cerebellar_hypoplasia_and_internal_malformations MEDGEN:331296 SCTID:763821001 Bonnemann-Meinecke syndrome MONDO:0011036 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. MESH:C536336 OMIM:601322 GARD:0004437 porencephaly cerebellar hypoplasia internal malformations UMLS:C1832472 Orphanet:2941 Bonnemann Meinecke syndrome