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Results 1 - 4 of 4 for Severe congenital neutropenia autosomal recessive 3
  1. Severe congenital neutropenia 
    ... DOMINANT; SCN1 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 ...
    https://medlineplus.gov/.../condition/severe-congenital-neutropenia - Genetics
  2. TCIRG1 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/tcirg1 - Genetics
  3. CLPB deficiency 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/clpb-deficiency - Genetics
  4. CLPB gene 
    ... CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic ... disorder with cataract, neutropenia, epilepsy, and methylglutaconic ...
    https://medlineplus.gov/genetics/gene/clpb - Genetics