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Summary
HYPOPHOSPHATASIA, CHILDHOOD
241510
OMIM = Online Medalian Inheritance of Men
247667
1p36.12
rare
autosomal recessive
mutation in the ALPL gene
symptoms
craniostenosis
defect of walking, running, rising or climbing
dental caries
dolichocephaly
myopathy
onset, adulthood
onset, childhood
pain, bones or joints
seizures
short stature
skeletal changes, skeletal abnormalities
Teeth: generalized defect or abnormalities
Teeth: premature loss of primary and/or secondary teeth
laboratory finding
Phosphoethanolamine increasedurine
Phosphatase, alkaline decreasedserum
Literature
Al-Hussaini A,et al.Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failureJ Pediatr1363553-5592014
Tokola AM,Aberg LE, Autti THBrain MRI findings in aspartylglucosaminuriaJ Neuroradiol426345-3572015