hypomyelinating leukodystrophy 11

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the PO

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21.

Signs and symptoms

• Hypoplasia of the corpus callosum
• Ataxia
• CNS hypomyelination
• Tremor
• Global developmental delay
• Spasticity
• Intellectual disability
• Delayed ability to walk
• Cerebellar atrophy
• Leukodystrophy

Also known as: HLD11