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Severe congenital neutropenia autosomal recessive 3
- ... 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 ...
- ... CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic ... disorder with cataract, neutropenia, epilepsy, and methylglutaconic ...