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128 Possible Causes for Some Features Are Variably Expressed

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    1,2, Sean Wallace 3, Samuel C. C. Chiang 4, Tuva Barøy 1,2, Asbjørn Holmgren 1,2, Asbjørg Stray-Pedersen 1,†, Yenan T. Bryceson 4, Petter Strømme 2,3, Eirik Frengen 1,2 and Doriana Misceo 1,2,* 1 Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway 2 Faculty of Medicine, University of Oslo, 0450 Oslo,[…][mdpi.com]

  • Migraine

    At present, the International Headache Society (IHS) classification recognises some phenotypical features attributing them to diagnostic subtypes.[dx.doi.org] However, patients with the same diagnosis present a symptomatological pattern (type of pain, pain location, accompanying symptoms) underlining a great variability of expressions[dx.doi.org]

  • Familial Multinodular Goiter

    These syndromes are almost certainly under-reported given the broad range and variable expressivity of the associated features.[onclive.com] The advent of next generation sequencing has enabled greater access to testing and has led to the discovery that at least some of these syndromes are more common than previously[onclive.com]

  • Migraine with or without Aura

    At present, the International Headache Society (IHS) classification recognises some phenotypical features attributing them to diagnostic subtypes.[doi.org] However, patients with the same diagnosis present a symptomatological pattern (type of pain, pain location, accompanying symptoms) underlining a great variability of expressions[doi.org]

  • Non-Syndromic Ocular Stickler Syndrome Type 1 

    Type I Stickler syndrome has multiple systemic features such as cleft palate, hearing impairment, premature arthritis, micrognathia, kyphoscoliosis, and some signs such as[disorders.eyes.arizona.edu] However, the evidence for the ocular type described here as a distinct entity remains slim and the clinical picture may simply reflect variable expressivity of mutations in[disorders.eyes.arizona.edu]

  • Marfan Syndrome

    This is known as variable expression , and it makes it almost impossible to predict how the disease will progress in any affected individual. How Do Doctors Diagnose It?[kidshealth.org] Some people have very mild symptoms, while others have severe ones — even within the same family.[kidshealth.org] Although people with Marfan syndrome often have similar physical features, the disease doesn't affect everyone in the same way.[kidshealth.org]

  • Massive Trauma

    However, caution should be exercised since skeletal maturation is still incomplete and the expression of sex-related features is highly variable; while some individuals exhibit[journals.plos.org]

  • Hereditary Mixed Polyposis Syndrome

    Reported extraintestinal features are similar to FAP and can be variably expressed: cystic fundic gland polyps/gastric cancer, CHRPEs, osteomas, dental anomalies, skin lesions[diacritech.com] MAP can also present with few or no polyps and, in some cases, duodenal polyposis and/or duodenal adenocarcinoma.[diacritech.com]

  • Kyphoscoliosis

    Type I Stickler syndrome has multiple systemic features such as cleft palate, hearing impairment, premature arthritis, micrognathia, kyphoscoliosis, and some signs such as[disorders.eyes.arizona.edu] However, the evidence for the ocular type described here as a distinct entity remains slim and the clinical picture may simply reflect variable expressivity of mutations in[disorders.eyes.arizona.edu]

  • Hemiplegia

    Such variable expressivity has been recently reported for two other mutations (T370N and D923N) in ATP1A3 -related disorders [ 19, 21 ].[journals.plos.org] , with some that overlap with both disorders.[journals.plos.org] Clinical features of these patients are summarized in S2 Table.[journals.plos.org]

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