| http://purl.uniprot.org/diseases/4135 | http://www.w3.org/2000/01/rdf-schema#comment | "A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe."xsd:string |