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

• OMIM:617193
• ORDO:496641

Ontology

Human Disease   ( DOID:0070423 )