Ataxia telangiectasia like disorder
WebThese conditions, which include ataxia telangiectasia, 9,10 ataxia telangiectasia–like disorder, 42 ataxia with oculomotor apraxia type 1, 29,30 and ataxia with oculomotor apraxia type 2, 25,27 ... WebNM_005591.4(MRE11):c.1051C>T (p.Arg351Cys) AND Ataxia-telangiectasia-like disorder 1 Clinical significance: Uncertain significance (Last evaluated: Jan 13, 2024) Review status: 1 star out of maximum of 4 stars
Ataxia telangiectasia like disorder
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WebAtaxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. ... WebNM_005591.4(MRE11):c.1780A>G (p.Arg594Gly) AND Ataxia-telangiectasia-like disorder 1 Clinical significance: Likely benign (Last evaluated: Jan 13, 2024) Review status: 1 star out of maximum of 4 stars
WebNM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) AND Ataxia-telangiectasia-like disorder 1 Clinical significance: Uncertain significance (Last evaluated: May 13, 2024) Review status: http://www.cancerindex.org/geneweb/Ataxia_Telangiectasia.html
WebThe .gov means it's official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you're on a federal government site. WebJan 1, 2024 · Ataxia-telangiectasia-like disorder (ATLD) is a rare, autosomal recessive disorder characterized by ataxia and oculomotor apraxia that is caused by mutations in …
WebAtaxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia. Laboratory studies of patient cells showed increased susceptibility to radiation, consistent with a defect in DNA repair. The disorder shares some phenotypic features of ataxia …
WebAtaxia-telangiectasia-like disorder-2 is an autosomal recessive syndrome resulting from defects in DNA excision repair. Affected individuals have a neurodegenerative phenotype … red hot chili peppers recenzeWebNM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) AND Ataxia-telangiectasia-like disorder 1 Clinical significance: Likely pathogenic (Last evaluated: Oct 22, 2024) Review status: red hot chili peppers readymadeWebAtaxia is a movement disorder caused by problems in the brain. When you have ataxia, you have trouble moving parts of your body the way you want. ... like injuries, and some have no known clear ... rice bowl chinese takeawayWebAtaxia-Telangiectasia. Ataxia-Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. People with A-T have an unsteady, wobbly gait (ataxia) that gets worse as they get older; dilated, corkscrew-shaped blood vessels (telangiectasia) on the whites of the eyes and on sun-exposed areas of skin ... rice bowl cafe hoursWebNM_005591.4(MRE11):c.33C>A (p.Asn11Lys) AND Ataxia-telangiectasia-like disorder Clinical significance: Uncertain significance (Last evaluated: Aug 28, 2024) Review status: 1 star out of maximum of 4 stars rice bowl cafe brakerWebFeb 16, 2015 · Ataxia-telangiectasia-like disorder-1 is an autosomal recessive disorder characterized clinically by progressive cerebellar degeneration resulting in ataxia … rice bowl ceceWebAug 29, 2024 · Ataxia-telangiectasia (A-T), a rare inherited disorder, usually affects the nervous and immune systems, and occasionally other organs. A-T is associated mainly with mutations in the ataxia telangiectasia mutated (ATM) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. red hot chili peppers reach out lyrics