3-methylglutaconic aciduria type 9

A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13.

Signs and symptoms

• Strabismus
• Seizure
• Severe intellectual disability
• High palate
• Wide intermamillary distance
• Delayed speech and language development
• Delayed ability to walk
• Choreoathetosis
• 3-Methylglutaric aciduria
• Global developmental delay

Also known as: 3-methylglutaconic acuduria type IX, MGCA9