Aprosencephaly cerebellar dysgenesis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 1126
OMIM Id: 601374
ICD-10: Q04.3
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: Midline cerebral malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000193) Bifid uvula 66 / 7739
2
 (HPO:0007973) Retinal dysplasia 27 / 7739
3
 (HPO:0001762) Talipes equinovarus 309 / 7739
4
 (HPO:0007265) Absent mesencephalon 1 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Wide gums 1 / 7739
7
 (HPO:0006893) Severely dysplastic cerebellum 1 / 7739
8
 (HPO:0007268) Aprosencephaly 2 / 7739
9
 (HPO:0007027) Poorly formed metencephalon 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: