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

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_

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.

Signs and symptoms

• Peripheral axonal neuropathy
• Strabismus
• Dystonia
• Nonimmune hydrops fetalis
• Distal muscle weakness
• Oculomotor apraxia
• Mental deterioration
• Scoliosis
• Hypoplasia of the corpus callosum
• Gait disturbance

Also known as: NEDSCW