Porencephaly - cerebellar hypoplasia - internal malformations

General Information (adopted from Orphanet):

Synonyms, Signs: Bonnemann-Meinecke syndrome
Number of Symptoms 9
OrphanetNr: 2941
OMIM Id: 601322
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Syndrome with a cerebellar malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001696) Situs inversus totalis 44 / 7739
2
 (HPO:0001636) Tetralogy of Fallot 104 / 7739
3
 (HPO:0001631) Atria septal defect 274 / 7739
4
 (OMIM) Bilateral porencephaly 1 / 7739
5
 (HPO:0002132) Porencephaly 18 / 7739
6
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
8
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
9
 (OMIM) Absent vermis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: