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Results 1 - 10 of 54 for Arts syndrome
  1. Arts syndrome 
    Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by ... they typically have much milder symptoms.Boys with Arts syndrome have profound sensorineural hearing loss, which is a ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  2. PRPS1 gene 
    ... gene mutations have been identified in people with Arts syndrome, a disorder that causes serious neurological problems in ... milder symptoms.The PRPS1 gene mutations that cause Arts syndrome change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/prps1 - Genetics
  3. Cranioectodermal dysplasia 
    ... Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 ...
    https://medlineplus.gov/.../condition/cranioectodermal-dysplasia - Genetics
  4. CHD7 gene 
    ... Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  5. CHARGE syndrome 
    ... Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  6. Tumor necrosis factor receptor-associated periodic syndrome 
    ... Aug;54(8):2674-87. doi: 10.1002/art.21964. Citation on PubMed Rezaei N. TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder. Clin Rheumatol. ...
    https://medlineplus.gov/...tor-receptor-associated-periodic-syndrome - Genetics
  7. GLUT1 deficiency syndrome 
    ... M, Zuberi SM, De Vivo DC. Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi: 10.1002/epi4.12414. ... of GLUT1 deficiency syndrome. Neuropediatrics. 2009 Oct;40(5):207-10. doi: ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  8. Distal 18q deletion syndrome 
    ... Cremers C, Frijns JP, Smeets D, van Ravenswaaij-Arts C. Congenital aural atresia in 18q deletion or de Grouchy syndrome. Otol Neurotol. 2003 Nov;24(6):900-6. ...
    https://medlineplus.gov/.../condition/distal-18q-deletion-syndrome - Genetics
  9. TNFRSF1A gene 
    ... Aug;54(8):2674-87. doi: 10.1002/art.21964. Citation on PubMed Stojanov S, McDermott MF. The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med. 2005 Oct ...
    https://medlineplus.gov/genetics/gene/tnfrsf1a - Genetics
  10. Mainzer-Saldino syndrome 
    ... Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
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