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3,147 Possible Causes for Abnormal Corticomedullary Differentiation, female gonadal dysgenesis, High Pitched Voice

Did you mean: Abnormal Corticomedullary Differentiation, female, gonadal dysgenesis, High Pitched Voice

  • Mulibrey Nanism Syndrome

    Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141 WeillMarchesani Syndrome 20 Laron Dwarfism[books.google.es] pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[academic.oup.com]

  • Hypogonadism

    A high-pitched voice, breasts, little body hair, and smaller muscle mass are all things typically associated with women.[study.com] (primary hypogonadism) in females include the following: Turner syndrome Inactivating mutations XX and XY gonadal dysgenesis Premature menopause Radiation therapy Chemotherapy[emedicine.medscape.com] pitched voice.[newyorkurologyspecialists.com]

    Missing: Abnormal Corticomedullary Differentiation
  • Pfeiffer-Palm-Teller Syndrome

    Pseudo Turner syndrome info... Pseudo Ullrich-Turner syndrome info... Pseudo von Willebrand's syndrome info... Pseudo-Argyll Robertson pupil info...[mt911.com] Voice Annotation Sufficiency: ?[monarchinitiative.org] dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes[en.wikipedia.org]

    Missing: Abnormal Corticomedullary Differentiation
  • 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] They may also demonstrate truncal obesity, a high pitched voice, and delayed closure of the sutures of the skull, causing delayed closure of the fontanelles.[rarediseases.org] 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]

    Missing: Abnormal Corticomedullary Differentiation
  • Laron Syndrome with Immunodeficiency

    […] climacteric states ( N95.1 ) pure gonadal dysgenesis ( Q99.1 ) Turner's syndrome ( Q96.- ) E28.8 Other ovarian dysfunction Ovarian hyperfunction NOS E28.9 Ovarian dysfunction[apps.who.int] Patients may have a high-pitched voice and present truncal obesity.[symptoma.com] The sibs showed the typical clinical features of Laron syndrome: they were very short and obese, had acromicria, small genitalia (in the boys), and a high-pitched voice.[cags.org.ae]

    Missing: Abnormal Corticomedullary Differentiation
  • Dubowitz Syndrome

    Examples include: Gonadal dysgenesis. Patients often have XO (often with mosaicism - eg, Turner syndrome ) or XY karyotypes and present as females with amenorrhoea.[patient.info] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.com]

    Missing: Abnormal Corticomedullary Differentiation
  • Bloom Syndrome

    The test will also detect Edwards’ syndrome, the less common Patau’s syndrome and the more common Turner’s syndrome.[intellectualdisability.info] Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]

    Missing: Abnormal Corticomedullary Differentiation
  • Laron Syndrome

    dysgenesis) GnRHR (Gonadotropin-releasing hormone insensitivity) EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2) AVPR2 (Nephrogenic diabetes insipidus[en.wikipedia.org] Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature[ncbi.nlm.nih.gov] They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH[ncbi.nlm.nih.gov]

    Missing: Abnormal Corticomedullary Differentiation
  • Frasier Syndrome

    . • Gynecomastia • High pitched voice • Micropenis Chordee Bifid scrotum 23.[slideshare.net] Abstract The description of Frasier syndrome until now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a significant risk of gonadoblastoma[ncbi.nlm.nih.gov] 1 Frasier syndrome Frasier syndrome is XY females with gonadal dysgenesis, progressive glomerulopathy (FSGS), and a significant risk of gonadoblastoma.[mediconotebook.com]

    Missing: Abnormal Corticomedullary Differentiation
  • Seckel Syndrome

    dysgenesis, pseudohypoparathyroidism and premature epiphyseal fusion.[jisppd.com] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality[rarediseases.info.nih.gov]

    Missing: Abnormal Corticomedullary Differentiation

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