neurodevelopmental disorder with behavioral abnormalities and childhood-onset spastic paraplegia

A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressiv

A hereditary spastic paraplegia characterized by mild global developmental delay apparent from infancy, with mildly delayed walking and speech acquisition, mildly impaired intellectual development, behavioral abnormalities, and age-dependent, slowly progressive spastic paraplegia late in the first decade, resulting in gait abnormalities but not loss of ambulation, that has_material_basis_in homozygous mutation in the TBCB gene on chromosome 19q13.

Signs and symptoms

• Strabismus
• Hearing impairment
• Polyneuropathy
• Hypotonia
• Hammertoe
• Long palm
• Camptodactyly
• Ptosis
• Pectus excavatum
• Spasticity

Also known as: NEDBSPG