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1,240 Possible Causes for Dysmorphic Face, Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

  • Achondrogenesis

    In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org] A nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), showed defects that[symptoma.com]

  • Achondrogenesis Type 1B

    In mice, a nonsense mutation in the thyroid hormone receptor interactor 11 gene (Trip11), which encodes the Golgi microtubule-associated protein 210 (GMAP-210), resulted in[en.wikipedia.org]

  • Klinefelter Syndrome

    Int J Endocrinol. 2012; 2012: 324835. This article has been cited by other articles in PMC. Abstract The aim of the study was to establish the characteristics of presentation of 94 patients with Kinelfelter's syndrome (KS) referred to the endocrinologist at different ages. The diagnosis of KS was more frequent in[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Marfan Syndrome

    Cardiovascular complications represent the leading cause of morbidity and mortality in patients with Marfan syndrome. Here, we describe a unique case where a total artificial heart was implanted in a young Marfan syndrome woman. A 22-year-old postpartum African American female with Marfan syndrome developed[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Skeletal Dysplasia

    Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Growth Hormone Deficiency

    Netherton syndrome (NS) is a rare autosomal recessive disorder characterized by ichthyosiform scaling, hair abnormalities, and variable atopic features. Mutations in the serine protease inhibitor Kazal type 5 (SPINK5) gene leading to lymphoepithelial Kazal-type-related inhibitor (LEKTI) deficiency cause NS. Growth[…][ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Laron Syndrome

    The siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.com]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Bloom Syndrome

    , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[dermatologyadvisor.com] […] syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms[ncbi.nlm.nih.gov]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene
  • Osteogenesis Imperfecta

    Subtle dysmorphism, log face with prominent mandible and large ears, macroorchidism in postpubertal males, behavioral abnormalities, due to lack of FMR1 in areas such as the[en.wikipedia.org]

    Missing: Mutation in the Thyroid Hormone Receptor Interactor 11 Gene

Further symptoms