Term Name:	neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment
Synonyms:	NEDSTV
Definition:	An autosomal recessive intellectual developmental disorder characterized by severe intellectual disability, spastic tetraparesis, reduced vision, and epilepsy, associated with severe hydrocephalus, corpus callosum agenesis/hypoplasia, mild ventricular dilation, optic nerve hypoplasia, and white matter reduction that has_material_basis_in homozygous or compound heterozygous mutation in the FSD1L gene on chromosome 9q31.
Ontology:	Human Disease [DOID:0070818]   ( DOID:0070818 )