Additional Disease Briefs


autosomal recessive Robinow syndrome

Also known as: COVESDEM syndrome, Covesdem syndrome, Covesdem syndrome, formerly, RRS, Robinow syndrome, autosomal recessive, Robinow syndrome, autosomal recessive, with Brachy-syn-polydactyly, Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals, costovertebral segmentation defect with mesomelia, costovertebral segmentation defect with mesomelia, formerly, costovertebral segmentation defect-mesomelia syndrome





autosomal recessive severe congenital neutropenia due to G6PC3 deficiency

Also known as: Dursun syndrome, SCN4, autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, neutropenia, severe congenital 4, autosomal recessive, neutropenia, severe congenital, 4, autosomal recessive, pulmonary arterial hypertension, leukopenia, and atrial septal defect, severe congenital neutropenia type 4, severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome