Rieger anomaly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr: 91483
OMIM Id: 137600
601631
602482
ICD-10: Q13.8
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: Iridogoniodysgenesis
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000164) Abnormality of the teeth hallmark [HPO:curators] 291 / 7739
2
 (HPO:0001999) Abnormal facial shape 169 / 7739
3
 (HPO:0000501) Glaucoma hallmark [HPO:curators] 180 / 7739
4
 (HPO:0007990) Hypoplastic iris stroma hallmark [HPO:curators] 9 / 7739
5
 (HPO:0007730) Iris hypopigmentation hallmark [HPO:curators] 4 / 7739
6
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: