Wednesday August 1st, 2018
X-Linked Ichthyosis
What is X-Linked Ichthyosis? X-linked ichthyosis is a genetic disorder caused by a mutation in…
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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…
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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…
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Wednesday August 1st, 2018
Duchenne/Becker Muscular Dystrophy
What are Duchenne/Becker Muscular Dystrophy? Dystrophinopathies are a group of conditions that generally cause muscle…
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Wednesday August 1st, 2018
Congenital Adrenal Hyperplasia
What is 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia? Congenital adrenal hyperplasia (CAH) refers to a group of…
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Friday April 27th, 2018
Factor V Leiden Thrombophilia
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor V Leiden is…
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Friday April 27th, 2018
Segawa Syndrome
What is Segawa Syndrome? Segawa syndrome, also called dopa-responsive dystonia, is an inherited disease that…
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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,…
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Sunday April 15th, 2018
Leukoencephalopathy With Vanishing White Matter
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and…
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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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