hypomyelinating leukodystrophy 22

A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene

A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26.

Signs and symptoms

• Borderline intellectual disability
• Astigmatism
• Delayed speech and language development
• Strabismus
• Babinski sign
• Delayed ability to walk
• Hypermetropia
• Lower limb hyperreflexia
• Flexion contracture
• Dysarthria

Also known as: HLD22