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Disease Ontology Browser
early childhood-onset progressive leukodystrophy (DOID:0070744)
Alliance: disease page
Synonyms: alkaline ceramidase 3 deficiency; PLDECO
Alt IDs: OMIM:617762, ICD10CM:E75.29, ORDO:502444, UMLS_CUI:C4540358
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
05/26/2026
MGI 6.24 		The Jackson Laboratory