| Term Name: | neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter |
|---|---|
| Synonyms: | NEDSCW |
| 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. |
| Ontology: | Human Disease [DOID:0070697] ( DOID:0070697 ) |