RETINAL APLASIA

General Information (adopted from Orphanet):

Synonyms, Signs: AMAUROSIS CONGENITA
Number of Symptoms 2
OrphanetNr:
OMIM Id: 179900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007875) Congenital blindness 9 / 7739
2
(OMIM) Retinal aplasia 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: