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crowded syndrome 1
- ... this condition may have a low tolerance for crowded places and loud noises. People with ... The exact prevalence of hereditary hyperekplexia is ...
- ... Smith syndrome Genetic Testing Registry: Autosomal dominant Robinow syndrome 1 Genetic Testing Registry: Autosomal recessive Robinow syndrome Genetic ...
- ... V, Vilacosta I, Bruna I, Fuster V. Marfan syndrome. Part 1: pathophysiology and diagnosis. Nat Rev Cardiol. 2010 May; ... Bartels R, Reinhardt DP. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. J ...
- ... patches of missing hair in the eyebrows. Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns.Although ... Citation on PubMed Verma S, Draznin M. Apert syndrome. Dermatol Online J. 2005 Mar 1;11(1):15. No abstract available. Citation on ...
- ... which affects communication and social interaction. 48,XXYY syndrome is estimated to affect 1 in 18,000 to 40,000 male newborns. ... 24;1:42. doi: 10.1186/1750-1172-1-42. Citation on PubMed or Free article on PubMed Central
- ... abnormalities, such as cone-shaped (conical ), jagged, or crowded teeth. Rarely, people with MCTT syndrome have premature fusion of certain skull bones (craniosynostosis). ...
- ... PubMed Tristani-Firouzi M, Etheridge SP. Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch. 2010 Jul;460(2):289-94. ...
- ... 10;1:26. doi: 10.1186/1750-1172-1-26. Citation on PubMed or Free article on PubMed Central
- Marfan syndrome is caused by variants in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body. The ...
- Complications may include: Dehydration, severe Hemolytic-uremic syndrome ... These may include febrile seizures (also called a "fever ...