Create issue ticket

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[] pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[] […] disease in the right kidney, such as poor corticomedullary differentiation and cortical atrophy that were confirmed by renal scintigraphy (Fig. 3 ).[]

  • Hypogonadism

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

    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...[] Voice Annotation Sufficiency: ?[] dysgenesis ) GnRHR ( Gonadotropin-releasing hormone insensitivity ) EDNRB ( ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2 ) AVPR2 ( Nephrogenic diabetes[]

    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[] 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.[] 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[]

    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[] Patients may have a high-pitched voice and present truncal obesity.[] 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.[]

    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.[] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[]

    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.[] 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,[] 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[]

    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[] Clinically, all three presented with the typical craniofacies of Laron syndrome, consisting of prominent forehead and hypoplastic nasal bridge, high-pitched voice, short stature[] They had characteristic features and biochemical findings including prominent forehead; depressed nasal bridge; central adiposity; high-pitched voices; micropenis; high GH[]

    Missing: Abnormal Corticomedullary Differentiation
  • Frasier Syndrome

    . • Gynecomastia • High pitched voice • Micropenis Chordee Bifid scrotum 23.[] 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[] 1 Frasier syndrome Frasier syndrome is XY females with gonadal dysgenesis, progressive glomerulopathy (FSGS), and a significant risk of gonadoblastoma.[]

    Missing: Abnormal Corticomedullary Differentiation
  • Seckel Syndrome

    dysgenesis, pseudohypoparathyroidism and premature epiphyseal fusion.[] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[] 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[]

    Missing: Abnormal Corticomedullary Differentiation

Similar symptoms