About   Help   FAQ
Disease Ontology Browser
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.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory