hypomyelinating leukodystrophy 4

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chrom

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33.

Signs and symptoms

• Poor head control
• Strabismus
• Babinski sign
• Global developmental delay
• Hypotonia
• Secondary microcephaly
• Progressive spasticity
• Feeding difficulties in infancy
• Spastic paraplegia
• Leukodystrophy

Also known as: HLD4; MitCHAP60 disease; Pelizaeus-Merzbacher-like disease due to HSPD1 mutation; mitochondrial HSP60 chaperonopathy