early childhood-onset progressive leukodystrophy

Term ID

DOID:0070744

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. https://pubmed.ncbi.nlm.nih.gov/26792856/

References

• GARD:0017936
• ICD10CM:E75.29
• MIM:617762
• ORDO:502444
• SNOMEDCT_US_2026_03_01:1237515001
• UMLS_CUI:C4540358

Ontology

Human Disease   ( DOID:0070744 )