Phenotype #0000323664

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00433138
Associated disease	IMD
Phenotype details	atypical Schimke immunoosseous dysplasia, uncharacteristically mild phenotype, small adult height (2.5 percentile), 20y-30y-onset focal segmental glomerulosclerosis, mild immunodeficiency
Diagnosis/Initial	primary immunodeficiency disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	35y (35 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-02-28 15:41:53 +01:00 (CET)
Date last edited	N/A

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