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3,086 Possible Causes for Abnormal Corticomedullary Differentiation, Deep Tendon Reflexes Absent or Decreased, female gonadal dysgenesis

Did you mean: Abnormal Corticomedullary Differentiation, Deep Tendon Reflexes Absent or Decreased, female, gonadal dysgenesis

  • Ataxia Telangiectasia

    The exam may show signs of the following: Tonsils, lymph nodes, and spleen below normal size Decreased to absent deep tendon reflexes Delayed or absent physical and sexual[nlm.nih.gov] Certain endocrine abnormalities (eg, gonadal dysgenesis, testicular atrophy, diabetes mellitus) may occur.[msdmanuals.com] Cellular immunity can also be affected in A-T: abnormal development of the thymus, with absence of Hassall's corpuscles and corticomedullary differentiation, impaired delayed[err.ersjournals.com]

  • Vitamin B12 Deficiency

    Because cobalamin deficiency is routinely treated with parenteral cobalamin, we investigated the efficacy of oral therapy. We randomly assigned 38 newly diagnosed cobalamin deficient patients to receive cyanocobalamin as either 1 mg intramuscularly on days 1, 3, 7, 10, 14, 21, 30, 60, and 90 or 2 mg orally on a daily[…][ncbi.nlm.nih.gov]

    Missing: Abnormal Corticomedullary Differentiation female gonadal dysgenesis
  • Familial Hypobetalipoproteinaemia Type 1

    dysgenesis criteria Indication criteria-XY-GonadDysgen[eurogentest.org] Dysgenesis, Partial, With Minifascicular Neuropathy 1 46,XY Sex Reversal, Type 1 1 46,XY Sex Reversal, Type 2 1 46,XY Sex Reversal, Type 3 2 46,XY Sex Reversal, Type 5 4[preventiongenetics.com] Williams-Beuren syndrome [7q11.23; ELN, LIMK1,GTF2I] Download - WBS EJHG Wolf-Hirschhorn (4p-) syndrome Download 2010 Dec 8 EJHG Xeroderma pigmentosum Download 2013 Oct 9 XY type gonadal[eurogentest.org]

    Missing: Abnormal Corticomedullary Differentiation
  • Posterior Fusion of Lumbosacral Vertebrae-Blepharoptosis Syndrome

    Rectal tone may be decreased, and deep tendon reflexes may be exuberant or absent. Traditionally, plain x-rays are taken of any possibly injured areas.[merckmanuals.com] , 45,X/46,XX or XY Q96.4 Mosaicism, 45,X/other cell line(s) with abnormal sex chromosome Q96.8 Other variants of Turner's syndrome Q96.9 Turner's syndrome, unspecified Q97[embryology.med.unsw.edu.au] corticomedullary differentiation Occipital meningocele Dilated fourth ventricle Hepatic steatosis Tubulointerstitial fibrosis Tubular atrophy Undetectable electroretinogram[mendelian.co]

  • Growth Failure

    There were six females, seven males, and one patient with gonadal dysgenesis. All were prepuberal and were under care of one[jamanetwork.com] Syndrome. 1 Growth failure due to Turner Syndrome, which affects approximately 1:2,000 girls, is a genetic defect in which all or part of one of the two X-chromosomes is[hcp.merckgroup.com] In the presented case all the typical phenotypic stigmata related to Turner syndrome were missing.[ncbi.nlm.nih.gov]

    Missing: Abnormal Corticomedullary Differentiation Deep Tendon Reflexes Absent or Decreased
  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    dysgenesis mixed Gonadal dysgenesis Turner type Gonadal dysgenesis XY type associated anomalies Gonadal dysgenesis, XX type Gonadal dysgenesis, XY female type Gonadal dysgenesis[wikidoc.org] […] flexion creases, adducted thumbs, short palms, diffuse hypotonia, absent deep tendon reflexes q36 15264280 patient 8 monosomy of 7q36-qter; healthy mother with a history[chr7.org] Bondy CA for the Turner Syndrome Consensus Study Group. Care of girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group.[hawaii.edu]

    Missing: Abnormal Corticomedullary Differentiation
  • Hypogonadism

    (primary hypogonadism) in females include the following: Turner syndrome Inactivating mutations XX and XY gonadal dysgenesis Premature menopause Radiation therapy Chemotherapy[emedicine.medscape.com] Congenital causes include the following:[1][3][4] Chromosomal abnormalities (resulting in gonadal dysgenesis) - Turner's syndrome, Klinefelter's syndrome, Swyer's syndrome[en.wikipedia.org] Turnerâ s syndrome is also called monosomy X, gonadal dysgenesis, or Bonnevie-Ullrich syndrome. Children with hypogonadism do not enter puberty.[testocreams.com]

    Missing: Abnormal Corticomedullary Differentiation Deep Tendon Reflexes Absent or Decreased
  • Gonadoblastoma

    We report two female patients with gonadal dysgenesis and sex chromosome mosaicism involving the Y chromosome.[ncbi.nlm.nih.gov] Gonadoblastoma is an uncommon ovarian tumor arising primarily in females with gonadal dysgenesis and a 46, XY karyotype.[ncbi.nlm.nih.gov] Gonadoblastoma, a rare gonadal neoplasm, is composed of germ cells and sex cord derivatives and usually occurs in phenotypically female patients with gonadal dysgenesis.[ncbi.nlm.nih.gov]

    Missing: Abnormal Corticomedullary Differentiation Deep Tendon Reflexes Absent or Decreased
  • Polyneuropathy

    Deep-tendon reflexes may be decreased or absent.[orpha.net] This is most common in middle-aged men and has been termed neuralgic amyotrophy (also known as idiopathic brachial neuralgia or Parsonage-Turner syndrome) due to the fact[dartmouth.edu] During World War I, Guillain, Barré, and Strohl described a series of patients with a similar presentation and decreased or absent deep tendon reflexes.[emedicine.medscape.com]

    Missing: Abnormal Corticomedullary Differentiation
  • Turner Syndrome

    Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis.[ncbi.nlm.nih.gov] syndrome); 46,xx (gonadal dysgenesis, 46xx); 46,xy (gonadal dysgenesis, 46,xy); and sex chromosome mosaicism; (gonadal dysgenesis, mixed).[icd9data.com] dysgenesis Mixed partial gonadal dysgenesis Ovarian dysgenesis Turner syndrome Clinical Information A gonadal dysgenesis syndrome occurring in phenotypic females, characterized[icd10data.com]

    Missing: Abnormal Corticomedullary Differentiation Deep Tendon Reflexes Absent or Decreased

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