label: Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum
label_lc: early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
description: "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."