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Results 91 - 100 of 1,007 for Brain disorder
  1. Lowe syndrome 
    ... is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.Infants with Lowe ... with this condition are mostly limited to the brain, kidneys, and eyes. It is possible that other enzymes may be able to ... is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  2. MECP2 duplication syndrome 
    ... ML, LaSalle JM. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127- ...
    https://medlineplus.gov/.../condition/mecp2-duplication-syndrome - Genetics
  3. Aceruloplasminemia 
    ... PubMed Madsen E, Gitlin JD. Copper and iron disorders of the brain. Annu Rev Neurosci. 2007;30:317-37. doi: 10.1146/annurev.neuro.30.051606.094232. Citation on PubMed Miyajima H. Aceruloplasminemia, an iron metabolic disorder. Neuropathology. 2003 Dec;23(4):345-50. doi: ...
    https://medlineplus.gov/genetics/condition/aceruloplasminemia - Genetics
  4. GABRA1 gene 
    ... Cherubini E. The GABA excitatory/inhibitory shift in brain maturation and neurological disorders. Neuroscientist. 2012 Oct;18(5):467-86. doi: ...
    https://medlineplus.gov/genetics/gene/gabra1 - Genetics
  5. SEPSECS gene 
    ... gene have been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development, problems with movement, and ... disorder designated pontocerebellar hypoplasia type 2 (PCH2) in several ...
    https://medlineplus.gov/genetics/gene/sepsecs - Genetics
  6. AKT3 gene 
    ... the AKT3 gene are also involved in other disorders of brain growth. Megalencephaly without the other features of MPPH ... occur at some point during embryonic development. As brain cells continue to grow and divide, some of ... Cohen MM Jr. The AKT genes and their roles in various disorders. Am J Med Genet A. 2013 Dec;161A( ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  7. GRIN2B-related neurodevelopmental disorder 
    ... condition.Less common features of GRIN2B-related neurodevelopmental disorder include structural brain abnormalities, an unusually small head size (microcephaly), impaired ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  8. SADDAN 
    ... Researchers have not determined how the mutation disrupts brain development or causes acanthosis nigricans. FGFR3 SADDAN is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene ...
    https://medlineplus.gov/genetics/condition/saddan - Genetics
  9. EXOSC3 gene 
    ... gene have been identified in people with a disorder of brain development called pontocerebellar hypoplasia. The major features of this condition include delayed development overall, an unusually small head ... disorder designated pontocerebellar hypoplasia type 1 (PCH1). When PCH1 ...
    https://medlineplus.gov/genetics/gene/exosc3 - Genetics
  10. Megalencephaly-capillary malformation syndrome 
    ... polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. Am ...
    https://medlineplus.gov/...encephaly-capillary-malformation-syndrome - Genetics
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