GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage diseases. GRACILE syndrome has also been found...
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syndrome Gouverneur's syndrome GRACILE syndrome Graham-Little syndrome Gray baby syndrome Gray platelet syndrome Greater trochanteric pain syndrome Green...
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List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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Iron overload (redirect from Troisier–Hanot–Chauffard syndrome)
endocrine glands. Hemochromatosis may present with the following clinical syndromes: liver: chronic liver disease and cirrhosis of the liver. heart: heart...
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Fructose 1,6-bisphosphatase deficiency Glucose-6-phosphatase deficiency GRACILE syndrome Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes...
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syndrome in medical literature. GRACILE syndrome Mitochondrial complex III deficiency "OMIM Entry - # 262000 - Bjornstad Syndrome; BJS". omim.org. Retrieved...
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encephalopathy (Nonketotic hyperglycinemia) GRACILE syndrome Gyrate atrophy of choroid and retina Hydrolethalus syndrome 1 Infantile-onset spinocerebellar ataxia...
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with mitochondrial complex III deficiency (nuclear, 1), GRACILE syndrome, and Bjoernstad syndrome. BCS1L is located on the q arm of chromosome 2 in position...
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liver. Aceruloplasminemia. Atransferrinemia. Neonatal hemochromatosis GRACILE syndrome Porphyria cutanea tarda Standard diagnostic measures for haemochromatosis...
69 KB (7,315 words) - 08:22, 6 November 2024