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Results 1 - 10 of 32 for Inborn genetic diseases
  1. ... WG, Hogg R, Gonsoulin W. Fetal polycystic kidney disease associated with glutaric aciduria type II: an inborn error of energy metabolism. Am J Perinatol. 1996 Apr;13(3):131-4. doi: 10.1055/s-2007-994309. Citation on PubMed
  2. ... synthetase I deficiency belongs to a class of genetic diseases called urea cycle disorders. In this condition, the ... I deficiency disease Carbamyl-phosphate synthetase I deficiency disease Congenital hyperammonemia, type I ... Genetic Testing Registry: Congenital hyperammonemia, type I Carbamoyl-phosphate ...
  3. ... arginase.Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is ... symptoms of the condition. ARG1 deficiency Arginase deficiency disease Argininemia Hyperargininemia Genetic Testing Registry: Arginase deficiency Argininemia National Organization for ...
  4. ... alpha-ketoglutarate reductase deficiency disease Saccharopine dehydrogenase deficiency disease Saccharopinuria Genetic Testing Registry: Hyperlysinemia Genetic Testing Registry: Saccharopinuria Hyperlysinemia ...
  5. ... have similar signs and symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. Because these two conditions share a genetic cause and have overlapping features, researchers determined that ...
  6. ... to their sons. Congenital agranulocytosis Congenital neutropenia Infantile genetic agranulocytosis Kostmann disease Kostmann's agranulocytosis Kostmann's syndrome Severe infantile ...
  7. ... family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr-Jun;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014. Citation on PubMed
  8. ... methionine synthase activities Genetic Testing Registry: Cobalamin C disease Genetic Testing Registry: Methylmalonic aciduria and homocystinuria type cblD ...
  9. ... mental retardation syndrome Juvenile hyperuricemia syndrome Lesch-Nyhan disease LND LNS Primary hyperuricemia syndrome ... Lesch-Nyhan syndrome ...
  10. ... of the disorder in their family. Basal ganglia disease, adult-onset Ferritin-related neurodegeneration Hereditary ferritinopathy NBIA3 Neurodegeneration with brain iron accumulation 3 Genetic Testing Registry: Neuroferritinopathy Neuroferritinopathy National Organization for Rare ...
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