| Metadata | |
|---|---|
| ID | DOID:0070696 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070696 Copy |
| Name | neurodevelopmental disorder with seizures, hypotonia, and variable spasticity |
| Definition | An autosomal recessive intellectual developmental disorder characterized by global developmental delay with limited or no speech, intellectual disability, ataxia-dystonia, and epilepsy that has_material_basis_in homozygous mutation in the PGBD5 gene on chromosome 1q42. https://pmc.ncbi.nlm.nih.gov/articles/PMC12802831/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621482 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDSHS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |