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Summary
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET PLDECO
ALKALINE CERAMIDASE 3 DEFICIENCY
617762
OMIM = Online Medalian Inheritance of Men
502444
11q13.5
very rare
autosomal recessive
mutation in the ACER3 gene
symptoms
areflexia
cerebral atrophy
contractures, joints
developmental regression
dysmorphism
dystonia
hypertonia, spasticity
hypotonia
intellectual disability/intellectual developmental disorder (ID/ IDD)
leukodystrophy
macrocephaly (large calvaria, >2 SD for age)
onset, childhood
onset, infancy
peripheral neuropathy
short stature
laboratory finding
no specific laboratory findings (P, S, U ,CSF) urine
Literature
Chrispal A,et al.Amikacin-induced type 5 Bartter-like syndrome with severe hypocalcemiaJ Postgrad Med553208-2102009
Zaffanello M,et al.Type IV Bartter syndrome: report of two new casesPediatr Nephrol216766-7702006