| Term Name: | early-onset progressive encephalopathy with brain atrophy and spasticity |
|---|---|
| Synonyms: | PEBAS |
| Definition: | An autosomal recessive intellectual developmental disorder characterized by microcephaly, global developmental delay, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus that has_material_basis_in homozygous or compound heterozygous mutation in the TRAPPC12 gene on chromosome 2p25. |
| Ontology: | Human Disease [DOID:0070745] ( DOID:0070745 ) |