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Summary Literature (0)
MIM:617193 - ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT


Xenbase Genes: tbcd

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0044646 - early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Disease Ontology (DO):
DOID:0070423 - early onset progressive encephalopathy with brain atrophy and thin corpus callosum