Nanophthalmia

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr: 35612
OMIM Id: 600165
609549
611897
ICD-10: Q11.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Isolated anophthalmia - microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0007633) Bilateral microphthalmos 13 / 7739
2
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
3
 (HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
4
 (HPO:0000610) Abnormality of the choroid Very frequent [Orphanet] 11 / 7739
5
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
6
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
7
 (HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: