Global Variome shared LOVD

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Phenotype #0000300218 Individual ID 00408090 Associated disease - Phenotype details 4 years old girl with uncomplicated perinatal course. During infancy she was found to have failure to thrive, metabolic acidosis, and developmental delay; and diagnosed to have renal tubular acidosis. Chest X-ray showed generalized increased bone density. Her medical history is also significant for asthma. Her parents were cousins and she had three healthy brothers and one similarly affected sister. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Osteopetrosis, autosomal recessive 3, with renal tubular acidosis Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-13 19:19:00 +02:00 (CEST) Date last edited N/A

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