hereditary spastic paraplegia 9B

A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Signs and symptoms

• Intellectual disability
• Gait disturbance
• Global developmental delay
• Spastic paraplegia
• Spasticity
• Hyperreflexia
• Babinski sign
• Urinary incontinence
• Skeletal muscle atrophy
• Microcephaly

Also known as: SPG9B; autosomal recessive complex spastic paraplegia type 9B; autosomal recessive spastic paraplegia 9B