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neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment (DOID:0070818)
Alliance: disease page
Synonyms: NEDSTV
Alt IDs: OMIM:621643
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
09/01/2026
MGI 6.24 		The Jackson Laboratory