early-onset progressive encephalopathy with brain atrophy and spasticity

An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound hete

An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25.

Signs and symptoms

• Encephalopathy
• Hearing impairment
• Dystonia
• Cerebral cortical atrophy
• Agenesis of corpus callosum
• Hypoplasia of the pons
• Ventriculomegaly
• Axial hypotonia
• Dysphagia
• Microcephaly

Also known as: PEBAS