Term Name: early onset progressive encephalopathy with brain atrophy and thin corpus callosum
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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder