multiple mitochondrial dysfunctions syndrome 9B

A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homoz

A multiple mitochondrial dysfunctions syndrome characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures that has_material_basis_in homozygous or compound heterozygous mutation in the FDXR gene on chromosome 17q25.

Signs and symptoms

• Encephalopathy
• Peripheral axonal neuropathy
• Increased body weight
• Elevated mitochondrial citrate synthase activity
• Aminoaciduria
• Short stature
• Gastroesophageal reflux
• Gait imbalance
• Generalized hypotonia
• Paralysis

Also known as: MMDS9B