MYOPIA 18, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MYP18
Number of Symptoms 3
OrphanetNr:
OMIM Id: 255500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000545) Myopia 286 / 7739
2
(OMIM) Myopia, infantile 1 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 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 ...
Clinical Description OMIM Yang et al. (2009) examined 3 sibs from a consanguineous Chinese family with extreme high myopia and excessive extension of the axial length. The parents and grandparents were unaffected. None of the affected sibs had night blindness or ...