| Metadata | |
|---|---|
| ID | DOID:0070697 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070697 Copy |
| Name | neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter |
| Definition | An autosomal recessive intellectual developmental disorder characterized by mild to moderate global developmental delay, mildly to moderately impaired intellectual development, and progressive spasticity of the lower limbs with hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutations in the RPS6KC1 gene on chromosome 1q32. https://pubmed.ncbi.nlm.nih.gov/41130203/ |
| Xrefs | |
| SKOS |
exactMatch MIM:621460 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDSCW [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |