hypomyelinating leukodystrophy 2

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous

A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42.

Signs and symptoms

• Poor head control
• Facial palsy
• Ataxia
• Motor delay
• Nystagmus
• Spastic paraparesis
• Choreoathetosis
• Dysarthria
• Focal impaired awareness seizure
• Poor speech

Also known as: HLD2; PMLD1; Pelizaeus-Merzbacher-like disease 1; Pelizaeus-Merzbacher-like disease due to GJC2 mutation