Cataract 50 with or Without Glaucoma
Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skeletal Anomalies, with or Without Seizures
Autosomal Dominant Non-Syndromic Intellectual Disability
Retinal Dystrophy and Iris Coloboma with or Without Cataract
Mulibrey Nanism
Birk-Barel Syndrome