Early-onset non-syndromic cataract

Disease Export to PDF
Name:
Early-onset non-syndromic cataract
Description:

A rare, genetic, non-syndromic developmental defect of the eye disorder, with high clinical and genetic heterogeneity, most frequently characterized by bilateral, symmetrical, non-progressive cataracts which present at birth or in early-childhood. Additional ocular manifestations (e.g. anterior segment dysgenesis, colobomas, nystagmus, microcornea, microphthalmia, myopia) may be associated, however other organs/systems are usually not affected.

ORPHAcode:
91492
XREF(s):
Created:
29 Jul 2019 - 12:21
Changed:
29 Jul 2019 - 12:23