multiple mitochondrial dysfunctions syndrome 6

A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_i

A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22.

Signs and symptoms

• Inability to walk
• Absent speech
• Developmental regression
• Global developmental delay
• Seizure
• Hypotonia
• Cerebellar atrophy
• Increased circulating lactate concentration
• Poor head control
• Intellectual disability