MYOPIA 6

General Information (adopted from Orphanet):

Synonyms, Signs: MYP6
Number of Symptoms 1
OrphanetNr:
OMIM Id: 608908
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Myopia, high-grade 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are ...
Molecular genetics OMIM In a large 4-generation family in which 9 members had high-grade myopia, with an average spherical refractive error of -22.00D, Tran-Viet et al. (2013) performed exome sequencing and identified a heterozygous nonsense mutation in the SCO2 gene (Q53X; ...