childhood-onset neurodegeneration with brain atrophy

A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has

A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31.

Signs and symptoms

• Profound intellectual disability
• Cerebral atrophy
• Absent speech
• Developmental regression
• Hypoplasia of the corpus callosum
• Hyperintensity of cerebral white matter on MRI
• Inability to walk
• Spasticity
• Cerebellar atrophy
• Secondary microcephaly

Also known as: CONDBA; childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder