Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the TBCD gene, encoding tubulin-specific chaperone D. It is characterized by encephalopathy, cerebellar and cerebral atrophy, and a thin corpus callosum.

**Synonyms:** - Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome - PEBAT