hypomyelinating leukodystrophy 8

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotro

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23.

Signs and symptoms

• Dysmetria
• Dystonia
• Cerebellar atrophy
• Impaired horizontal smooth pursuit
• Gait ataxia
• Ataxia
• Thin corpus callosum
• CNS hypomyelination
• Leukodystrophy
• Intellectual disability

Also known as: HLD8