| Term Name: | early childhood-onset progressive leukodystrophy |
|---|---|
| Synonyms: | alkaline ceramidase 3 deficiency, PLDECO |
| Definition: | A leukodystrophy characterized by infantile onset of stagnation and regression of motor and language development progressing to complete lack of communication and purposeful movement that has_material_basis_in homozygous mutation in the ACER3 gene on chromosome 11q13. |
| Ontology: | Human Disease [DOID:0070744] ( DOID:0070744 ) |