early onset progressive encephalopathy with brain atrophy and thin corpus callosum

An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in

An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25.

Signs and symptoms

• Lower limb spasticity
• Muscle weakness
• Intellectual disability
• Global developmental delay
• Delayed speech and language development
• Secondary microcephaly
• Absent smooth pursuit
• Seizure
• Hypoplasia of the corpus callosum
• Upper limb spasticity

Also known as: PEBAT; early-onset progressive encephalopathy with brain atrophy and thin corpus callosum