hypomyelinating leukodystrophy 23

A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade

A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life.

Signs and symptoms

• Dysarthria
• Ataxia
• Thin corpus callosum
• Sensorineural hearing impairment
• CNS hypomyelination
• Spastic paraplegia
• Elevated circulating hepatic transaminase concentration
• Hyperreflexia
• Dilated cardiomyopathy
• Motor delay

Also known as: HLD23