neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter

Term ID

DOID:0070697

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. https://pubmed.ncbi.nlm.nih.gov/41130203/

References

• MIM:621460

Ontology

Human Disease   ( DOID:0070697 )