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 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 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 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 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 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 Friday April 27th, 2018
Segawa Syndrome
What is Segawa Syndrome? Segawa syndrome, also called dopa-responsive dystonia, is an inherited disease that…
Read More 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 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 Sunday April 15th, 2018
HFE-Associated Hereditary Hemochromatosis
Researchers have identified more than 20 mutations in the HFE gene that cause a form…
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