Results 1 -
10
of
21
for
osteoporosis autosomal recessive 6
- ... CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4 ...
- ... 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. Glucose-6-phosphate deficiency Glucose-6-phosphate transport defect GSD ...
- ... lysine may contribute to the short stature and osteoporosis seen in people with lysinuric protein intolerance. However, the ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... inheritance. J Clin Endocrinol Metab. 2005 Jun;90(6):3186-90. doi: ... and evidence for recessive autosomal inheritance. Horm Res. 2002;57 Suppl 2:71- ...
- ... 2 are thought to be inherited in an autosomal recessive pattern, which means both copies of the respective ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one copy of the ... each cell is sufficient to cause the disorder. Autosomal recessive means both copies of the gene in each ...
- ... by LRP5 gene variants can also have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... cell. GNPTG This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... Gene: STX3 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
