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early onset progressive encephalopathy with brain atrophy and thin corpus callosum
Summary
- Synonym
-
- PEBAT
- early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
- 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.
- Super Class
- autosomal recessive intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0070423
- Mondo Disease Ontology
- ORDO
- OMIM
