admin 0 Diseases Wednesday August 1st, 2018 X-Linked Ichthyosis What is X-Linked Ichthyosis? X-linked ichthyosis is a genetic disorder caused by a mutation in…Read More
admin 0 Diseases Wednesday August 1st, 2018 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency What is 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency? 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is a rare disorder that results…Read More
admin 0 Diseases Wednesday August 1st, 2018 Nonsyndromic Hearing Loss and Deafness, MT-RNR1-related What is Nonsyndromic Hearing Loss and Deafness, MT-RNR1-related? Non-syndromic hearing loss is a partial or…Read More
admin 0 Diseases Wednesday August 1st, 2018 Duchenne/Becker Muscular Dystrophy What are Duchenne/Becker Muscular Dystrophy? Dystrophinopathies are a group of conditions that generally cause muscle…Read More
admin 0 Diseases Wednesday August 1st, 2018 Congenital Adrenal Hyperplasia What is 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia? Congenital adrenal hyperplasia (CAH) refers to a group of…Read More
admin 0 Diseases Friday April 27th, 2018 Factor V Leiden Thrombophilia Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is…Read More
admin 0 Diseases Friday April 27th, 2018 Segawa Syndrome What is Segawa Syndrome? Segawa syndrome, also called dopa-responsive dystonia, is an inherited disease that…Read More
admin 0 Diseases Sunday April 15th, 2018 Mild Hyperhomocysteinemia Caused by MTHFR Deficiency At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria,…Read More
admin 0 Diseases Sunday April 15th, 2018 Leukoencephalopathy With Vanishing White Matter Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and…Read More
admin 0 Diseases Sunday April 15th, 2018 HFE-Associated Hereditary Hemochromatosis Researchers have identified more than 20 mutations in the HFE gene that cause a form…Read More