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Results 1 - 10 of 13 for West syndrome
  1. STXBP1 encephalopathy 
    STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  2. Phosphoglycerate dehydrogenase deficiency 
    Phosphoglycerate dehydrogenase deficiency is a condition characterized by an unusually small head size (microcephaly); impaired development of physical reactions, movements, ...
    https://medlineplus.gov/...phosphoglycerate-dehydrogenase-deficiency - Genetics
  3. Developmental and epileptic encephalopathy 1 
    ... syndrome 1 X-linked Ohtahara syndrome X-linked West syndrome Genetic Testing Registry: Developmental and epileptic encephalopathy, 1 Genetic Testing Registry: West syndrome Infantile spasms syndrome National Organization for Rare Disorders ( ...
    https://medlineplus.gov/...elopmental-and-epileptic-encephalopathy-1 - Genetics
  4. Beta-propeller protein-associated neurodegeneration 
    ... that resemble those in epileptic syndromes, such as West syndrome or Lennox-Gastaut syndrome.Children with BPAN also ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  5. Lennox-Gastaut syndrome 
    ... infancy (infantile spasms) or a related condition called West syndrome before developing the features of Lennox-Gastaut syndrome. ...
    https://medlineplus.gov/genetics/condition/lennox-gastaut-syndrome - Genetics
  6. Bloom syndrome 
    ... 4.3.393. Citation on PubMed Liu Y, West SC. More complexity to the Bloom's syndrome complex. Genes Dev. 2008 Oct 15;22(20): ...
    https://medlineplus.gov/genetics/condition/bloom-syndrome - Genetics
  7. Familial acute myeloid leukemia with mutated CEBPA 
    ... nlm.nih.gov/books/NBK47457/ Citation on PubMed West AH, Godley LA, Churpek JE. Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for ...
    https://medlineplus.gov/...acute-myeloid-leukemia-with-mutated-cebpa - Genetics
  8. Noonan syndrome 
    ... Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar;38(3):331-6. ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
  9. Progressive myoclonic epilepsy type 1 
    ... P, Buresi C, Malafosse A. Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence ...
    https://medlineplus.gov/.../progressive-myoclonic-epilepsy-type-1 - Genetics
  10. Methemoglobinemia, beta-globin type 
    ... 02.001. Citation on PubMed Rehman HU. Methemoglobinemia. West J Med. 2001 Sep;175(3):193-6. ...
    https://medlineplus.gov/.../methemoglobinemia-beta-globin-type - Genetics
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