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Severe congenital neutropenia autosomal recessive 3
- ... DOMINANT; SCN1 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 ...
- ... with bone remodeling underlie the major features of autosomal recessive osteopetrosis. More About This Health Condition MedlinePlus Genetics provides information about Severe congenital neutropenia More About This Health Condition Atp6i ATP6N1C ATP6V0A3 ...
- Primary Immune Deficiency Disease Genetics and Inheritance
(National Institute of Allergy and Infectious Diseases) Immune System and Disorders/Genetics ... Immune System and Disorders ... National Institute of Allergy and Infectious Diseases ... From the National Institutes of Health - ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. 3-methylglutaconic aciduria type 7 3-methylglutaconic aciduria type ...
- ... CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic ... disorder with cataract, neutropenia, epilepsy, and methylglutaconic ...
- ... study. Most often, SCID is inherited in an autosomal recessive pattern , in which both copies of a particular ... father—contain defects. The best-known form of autosomal recessive SCID is caused by adenosine deaminase (ADA) deficiency, ...
(National Institute of Allergy and Infectious Diseases) 
