| Metadata | |
|---|---|
| ID | DOID:0070818 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070818 Copy |
| Name | neurodevelopmental disorder with seizures, spastic tetraparesis, and vision impairment |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621643 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDSTV [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |