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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder