multiple mitochondrial dysfunctions syndrome 4

A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, a

A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24.

Signs and symptoms

• Absent speech
• Decreased activity of mitochondrial complex I
• Optic atrophy
• Spasticity
• Developmental regression
• Generalized hypotonia
• Vegetative state
• Nystagmus
• Abnormal periventricular white matter morphology
• Visual impairment