optic atrophy 11

An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the

An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1.

Signs and symptoms

• Fiber type grouping
• Motor delay
• Intellectual disability
• Expressive language delay
• Leukoencephalopathy
• Global developmental delay
• Optic nerve hypoplasia
• Optic atrophy
• Visual impairment
• Increased variability in muscle fiber diameter

Also known as: OPA11