global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
GM1 gangliosidosis +
Graves ophthalmopathy
hereditary hyperferritinemia with congenital cataracts
hereditary optic neuropathy +
IgG4-related ophthalmic disorder +
IRVAN syndrome
isolated ankyloblepharon filiforme adnatum
isolated anophthalmia-microphthalmia syndrome +
isolated Pierre-Robin syndrome
Ito hypomelanosis
lacrimal apparatus disease +
lamellar ichthyosis +
lens disease +
Lowry-MacLean syndrome
LTBP2-related ocular dysgenesis +
Marshall syndrome
megalocornea-intellectual disability syndrome
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.