hypomyelinating leukodystrophy 26

A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the

A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21.

Signs and symptoms

• Scoliosis
• Global developmental delay
• Delayed CNS myelination
• Short stature
• Cerebellar atrophy
• Glossoptosis
• Small epiphyses
• Flat face
• Thin corpus callosum
• Hypoplastic cervical vertebrae

Also known as: HLD26