Affiliated tissues include kidney and bone, and related phenotypes are short stature and proteinuria [malacards.org]

Phenotypes Autosomal recessive inheritance ; Elevated alkaline phosphatase of bone origin ; Generalized aminoaciduria ; Glycosuria ; Hypercalciuria ; Hypophosphatemia ; Muscle weakness ; Osteopenia ; Proximal tubulopathy ; Renal insufficiency ; Rickets ; Short [mousephenotype.org]

Common birth defects seen with Fanconi anemia are short stature, thumb and arms abnormality (missing, misshapen or extra thumb, incompletely developed or missing forearm bone). [pediatriconcall.com]

Congenital anomalies include short stature; microcephaly; hypogenitalism; strabismus; anomalies of the thumbs, radii, kidneys, and urinary tract; mental retardation; and microphthalmia. [medical-dictionary.thefreedictionary.com]

Other causes of failure to thrive and short stature. Investigations The diagnosis is based on excessive loss of substances in the urine (eg, amino acids, glucose, phosphate, bicarbonate) in the absence of high plasma concentrations. [patient.info]

Mitochondrial cytopathies include a group of diseases characterized by myopathy, ataxia, seizures, and various other manifestations, including the Fanconi syndrome, determined by the specific tissue or tissues affected. [emedicine.medscape.com]

[…] determination of urinary beta2-microglobulin, Br J Dermatol, 2011, vol. 164 (pg. 648 - 51 ) 22 Salicylate-induced proximal tubular dysfunction, Am J Kidney Dis, 2007, vol. 50 (pg. 463 - 7 ) 23 Suramin-induced weakness from hypophosphatemia and mitochondrial myopathy [academic.oup.com]

We were able to map the locus for autosomal dominant familial renal Fanconi syndrome to the long arm of human chromosome 15 by genotyping a large central Wisconsin pedigree by performing a whole genome scan with 367 highly polymorphic simple sequence [nature.com]

[…] type 2 (proximal), hypophosphataemic rickets (children) or osteomalacia (adults), and renal glycosuria. [ 2, 3 ] Epidemiology The incidence of each cause of Fanconi's syndrome is different, although almost all of them are rather rare. [patient.info]

Proximal tubular dysfunction, resembling adult Fanconi's syndrome, was suggested by an increased urinary loss of phosphate and urate and glycosuria. [jamanetwork.com]

Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. [malacards.org]

On extensive investigation we documented proximal renal tubular dysfunction in the form of glycosuria, phosphaturia, proteinuria and bicorbonaturia. Liver biopsy also revealed hepatic glycogen accumulation. [omicsonline.org]

It characterized clinically by phosphaturia, glycosuria, and aminoaciduria. Symptoms Hyperphosphaturia Renal phosphate wasting is observed along with other symptoms of proximal tubular damage.. [moldiag.com]

We documented fasting hypoglycemia (serum Glucose 41 mg/dl a ter 4 hours of sleep). ABG analysis revealed compensated metabolic acidosis (pH 7.4, HCO3 16.0).Serum sodium and potassium were normal. [omicsonline.org]