early childhood-onset progressive leukodystrophy

A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosom

A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13.

Signs and symptoms

• Sloping forehead
• Dystonia
• Short stature
• Relative macrocephaly
• Coarse facial features
• Severe intellectual disability
• Developmental stagnation
• Smooth philtrum
• Leukodystrophy
• Thick lower lip vermilion

Also known as: PLDECO; alkaline ceramidase 3 deficiency