LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET; PLDECO | |
ALKALINE CERAMIDASE 3 DEFICIENCY | |
617762
OMIM = Online Mendelian Inheritance of Men | |
502444 | |
Alkaline ceramidase 3 | |
11q13.5 |
|
very rare autosomal recessive mutation in the ACER3 gene | |
Laboratory findings | no specific laboratory findings (P, S, U ,CSF) () |
Symptoms | areflexia cerebral atrophy contractures, joints developmental regression dysmorphism dystonia hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder leukodystrophy macrocephaly (large calvaria, >2 SD for age) onset, childhood onset, infancy peripheral neuropathy short stature |