3-methylglutaconic aciduria type 7b

A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13.

Signs and symptoms

• Bone marrow maturation arrest
• Global developmental delay
• Increased CSF lactate
• 3-Methylglutaconic aciduria
• Cerebellar atrophy
• Decreased total neutrophil count
• Cerebral atrophy
• Hypotonia
• Neonatal hypotonia
• Microcephaly