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Summary
FANCONI RENOTUBULAR SYNDROME 3 FRTS3
615605
OMIM = Online Medalian Inheritance of Men
3q27.2
very rare
autosomal dominant
mutation in the EHHADH gene
symptoms
aminoaciduria
Fanconi syndrome
glucosuria
growth retardation, poor growth
limb abnormalities, limb deformities
metabolic acidosis
onset, childhood
proteinuria
rickets
short stature
laboratory finding
D-Glucose mmol/mol Creaurine
Protein mmol/mol creatinineurine
Literature