neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment

Term ID

DOID:0070818

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. https://pubmed.ncbi.nlm.nih.gov/41720098/

References

• MIM:621643

Ontology

Human Disease   ( DOID:0070818 )