Term Name: | early onset progressive encephalopathy with brain atrophy and thin corpus callosum |
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Synonyms: | early-onset progressive encephalopathy with brain atrophy and thin corpus callosum, PEBAT |
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. |
Ontology: | Human Disease [DOID:0070423] ( DOID:0070423 ) |