Phenotype #0000093038

Individual ID	00117568
Associated disease	-
Phenotype details	renal tubular acidosis, proximal (pRTA); growth retardation, glaucoma, and cataracts. Poor dentition. Normal intelligence. No specific mention of band keratopathy, but corneal clouding was evident. Also some evidence of respiratory acidosis (i.e. elevated pCO2).
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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