Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000093044 Individual ID 00117574 Associated disease - Phenotype details renal tubular acidosis, proximal (pRTA); Motor and mental retardation, growth retardation, low weight, glaucoma, cataracts, band keratopathy, and calcification of basal ganglia (17). Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Mark Parker Database submission license No license selected Created by Mark Parker Date created 2012-05-18 20:09:40 +02:00 (CEST) Date last edited N/A

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