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 )

Relationships
is a type of: autosomal recessive disease leukodystrophy