Rare ophthalmic disorder with cortical involvement ORPHA:519343

• Alexander disease type II ORPHA:363722
• Autosomal recessive primary microcephaly ORPHA:2512
• Cerebral visual impairment ORPHA:447788
• Cortical blindness-intellectual disability-polydactyly syndrome ORPHA:1389
• Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome ORPHA:411986
• Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome ORPHA:488613
• Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome ORPHA:480898
• MELAS ORPHA:550
• Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome ORPHA:457351
• Oculomotor apraxia ORPHA:98688
• Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome ORPHA:477814
• TELO2-related intellectual disability-neurodevelopmental disorder ORPHA:488642
• Visual snow syndrome ORPHA:420556