" /> Renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies - CISMeF





Preferred Label : Renal tubular acidosis, distal, with nephrocalcinosis, short stature, impaired intellectual development, and distinctive facies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Proteinuria; Hypercalcemia; Hypokalemia; Hypercalciuria;

Prefixed ID : 611555;

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29/07/2025


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