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Autosomal recessive osteoporosis 1
- ... DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 DYSKERATOSIS CONGENITA, X-LINKED; DKCX REVESZ SYNDROME ...
- ... of the condition. CYP24A1 SLC34A1 Infantile hypercalcemia types 1 and 2 are thought to be inherited in an autosomal recessive pattern, which means both copies of the respective ...
- ... eye abnormalities characteristic of osteoporosis-pseudoglioma syndrome. LRP5 Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 ...
- ... Rare Disorders (NORD) ClinicalTrials.gov NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT; SCN1 NEUTROPENIA, SEVERE CONGENITAL, X-LINKED; SCNX NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 ...
- ... These mutations completely eliminate the function of GlcNAc-1-phosphotransferase. Mucolipidosis III alpha/beta and ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... 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 ...
- ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they ... Nasu-Hakola disease National Organization for Rare Disorders ( ...
- ... Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in ...
- ... people with these mutations, diagnosed with hypophosphatemic nephrolithiasis/osteoporosis 1, have nephrolithiasis or low bone mineral density (osteoporosis). ...
- ... xanthomatosis. CYP27A1 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 ...
