Early Onset Progressive Encephalopathy With Brain Atrophy And Thin Corpus Callosum
Disease ID: disease_node_16444
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| Dbxref | MIM:617193, ORDO:496641 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | PEBAT, early-onset progressive encephalopathy with brain atrophy and thin corpus callosum |
| Doid Label | early onset progressive encephalopathy with brain atrophy and thin corpus callosum |
| Doid Description | 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. |
| Disease Node Id | disease_node_16444 |
| Doid Id | DOID_0070423 |
| Label | Early Onset Progressive Encephalopathy With Brain Atrophy And Thin Corpus Callosum |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)