Individual #00056400

ID_report -
Reference PubMed: Smith 2000, Journal: Smith 2000
Remarks family, >1 affected, unaffected heterozygous carrier parents
Gender F
Consanguinity no
Country Turkey
Population -
Age/Death >08y (later than 8 years)
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases RTADR
Owner name Johan den Dunnen


Phenotypes

acidosis, tubular, renal, distal, autosomal recessive (RTADR) (RTADR)   Add phenotype for this disease

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Owner     
0000043014 no history of rickets (-HP:0002748), hypercalciuria (HP:0002150), arterial pH 7.20, serum HCO3- 7.6mM, serum K+ 3.0mM, urine pH 7.0 - - Isolated (sporadic) 7y 3y - - - Johan den Dunnen



Screenings


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Owner     
0000056360 DNA SEQ - - ATP6V0A4 Not yet submitted Johan den Dunnen



Variants

Stop! No entries found!