| Metadata | |
|---|---|
| ID | DOID:0070423 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/27666370/, https://pubmed.ncbi.nlm.nih.gov/27666374/, https://pubmed.ncbi.nlm.nih.gov/36527993/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
early-onset progressive encephalopathy with brain atrophy and thin corpus callosum [EXACT] PEBAT [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |