FOVEAL HYPOPLASIA 2

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 609218
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia rare [HPO:skoehler] 183 / 7739
2
 (HPO:0000627) Posterior embryotoxon rare [HPO:skoehler] 15 / 7739
3
 (HPO:0001137) Alternating esotropia rare [HPO:skoehler] 4 / 7739
4
 (HPO:0001492) Axenfeld anomaly rare [HPO:skoehler] 6 / 7739
5
 (HPO:0007663) Reduced visual acuity 100 / 7739
6
 (HPO:0007750) Hypoplasia of the fovea 11 / 7739
7
 (HPO:0000639) Nystagmus 555 / 7739
8
 (HPO:0000505) Visual impairment 297 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: