hypomyelinating leukodystrophy 21

A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome

A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13.

Signs and symptoms

• Dystonia
• Cerebellar atrophy
• Ataxia
• Nystagmus
• Failure to thrive
• Feeding difficulties in infancy
• Mental deterioration
• Microcephaly
• Corpus callosum atrophy
• Motor regression

Also known as: HLD21