early onset progressive encephalopathy with brain atrophy and thin corpus callosum (DOID:0070423)
Alliance: disease page
Synonyms: early-onset progressive encephalopathy with brain atrophy and thin corpus callosum; PEBAT
Alt IDs: OMIM:617193, ORDO:496641
Definition: 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.