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neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter (DOID:0070697)
Alliance: disease page
Synonyms: NEDSCW
Alt IDs: OMIM:621460
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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04/07/2026
MGI 6.24 		The Jackson Laboratory