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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory