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Human Disease

early onset progressive encephalopathy with brain atrophy and thin corpus callosum

Term ID
DOID:0070423
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. (3)
References
Ontology
Human Disease   ( DOID:0070423 )
Relationships
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Genes Involved
Zebrafish Models