hypomyelinating leukodystrophy 10

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42.

Signs and symptoms

• Inability to walk
• Hypoplasia of the brainstem
• CNS hypomyelination
• Skeletal muscle atrophy
• Hypoplasia of the corpus callosum
• Global developmental delay
• Secondary microcephaly
• Reduced cerebral white matter volume
• Hyperkinetic movements
• Narrow forehead

Also known as: HLD10