combined oxidative phosphorylation deficiency 18

A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chrom

A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11.

Signs and symptoms

• Delayed speech and language development
• Increased circulating lactate concentration
• Hypotonia
• Decreased activity of mitochondrial complex I
• Visual impairment
• Intrauterine growth retardation
• Lactic acidosis
• Skeletal muscle atrophy
• Oligohydramnios
• Mild intellectual disability

Also known as: COXPD18; growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome