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Results 1 - 10 of 240 for large syndrome
  1. VEXAS syndrome 
    ... characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of ...
    https://medlineplus.gov/genetics/condition/vexas-syndrome - Genetics
  2. Kearns-Sayre syndrome 
    ... SYNDROME; KSS PubMed Goldstein A, Falk MJ. Single Large-Scale Mitochondrial DNA Deletion Syndromes. 2003 Dec 17 [updated 2023 Sep 28]. In: ... and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum ... Epub 2008 Apr 15. Citation on PubMed
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  3. Kabuki syndrome 
    ... analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Hum Mutat. 2014 Jul;35(7):841- ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  4. 3q29 microdeletion syndrome 
    ... philtrum); a high bridge of the nose; and large ears. 3q29 microdeletion syndrome appears to be very rare. Based on a ...
    https://medlineplus.gov/.../condition/3q29-microdeletion-syndrome - Genetics
  5. Kuskokwim syndrome 
    ... their peers and they may have an abnormally large head (macrocephaly). Kuskokwim syndrome is extremely rare. It affects a small number ...
    https://medlineplus.gov/genetics/condition/kuskokwim-syndrome - Genetics
  6. FG syndrome 
    ... linked traits to their sons. FGS FGS1 Keller syndrome Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum OKS Opitz-Kaveggia syndrome Genetic Testing Registry: FG syndrome 2 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  7. CYLD cutaneous syndrome 
    ... Silva LACT, Ribeiro EM, Schuler-Faccini L. A large family with CYLD cutaneous syndrome: medical genetics at the community level. J Community ...
    https://medlineplus.gov/genetics/condition/cyld-cutaneous-syndrome - Genetics
  8. Coffin-Siris syndrome 
    ... Miyake N, Matsumoto N. Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients. J Hum Genet. 2019 Dec;64(12): ...
    https://medlineplus.gov/genetics/condition/coffin-siris-syndrome - Genetics
  9. Rabson-Mendenhall syndrome 
    ... prominent, widely spaced eyes; a broad nose; and large, low-set ears.Rabson-Mendenhall syndrome is one of a group of related conditions ...
    https://medlineplus.gov/.../condition/rabson-mendenhall-syndrome - Genetics
  10. Ehlers-Danlos syndrome 
    ... 2017 classification describes 13 types of Ehlers-Danlos syndrome.An unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the ...
    https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome -
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