retinal dystrophy with leukodystrophy

info · Genetic

A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12.

Signs and symptoms

Progressive microcephaly
Prominent ear helix
Cleft palate
Rotary nystagmus
Delayed speech and language development
Truncal titubation
Dysmetria
Dysarthria
Motor delay
Gowers sign

Also known as: ACBD5 deficiency