Create issue ticket

40 Possible Causes for High Pitched Voice, Mental Retardation (25%), Myotonic Dystrophy

Did you mean: High Pitched Voice, Mental Retardation (25, ), Myotonic Dystrophy

  • Mental Retardation

    Profound mental retardation: IQ below 20–25; usually caused by a neurological condition; require constant care.[iq-tests.eu] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.com] The best-known example is cri-du-chat syndrome , which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses[emedicine.medscape.com]

  • Schwartz-Jampel Syndrome

    The prevalence of mental retardation has been estimated at 25%, however, no etiologic cause has been described.[ncbi.nlm.nih.gov] These diseases affect the muscles, and, in patients with myotonic dystrophy, the lens, gonads, hair follicles, and, occasionally, the skeleton and central nervous system.[scinapse.io] Associated defects include a high-pitched voice, low hairline, low-set small ears, small testes, high-arched palate, and occasiona pes euinovarus.[whonamedit.com]

  • Autosomal Dominant Mental Retardation 21

    PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet 1998 ; 20 : 25 –30. D’Adamo P , Gulisano M, Oostra BA, et al.[jmg.bmj.com] For example, the myotonic dystrophy triplet repeat is most likely to expand when inherited from the mother.[hihg.med.miami.edu] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com]

  • Congenital Merosin-Positive Muscular Dystrophy

    retardation [ 11, 23, 25, 26 ].[content.iospress.com] Practical suggestions for the anesthetic management of a myotonic dystrophy patient. Myotonic dystrophy foundation toolkit. 2013;73-80. [Cited 2017 Feb 6].[scielo.org.co] […] palate Elevated palate Increased palatal height [ more ] 0000218 High pitched voice 0001620 Increased variability in muscle fiber diameter 0003557 Infantile onset Onset in[rarediseases.info.nih.gov]

  • Autosomal Dominant Mental Retardation 28

    Diagnostic investigation in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 13:6-25, 2005. 4.[siicsalud.com] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com] ., Molecular and comparative genetics of mental retardation, Genetics, 2004, 166, 835-81. PubMed Crossref Google Scholar [13] Ropers H.[degruyter.com]

  • Chromosome Y Structural Anomaly

    . • The number of such genes is consistent with the finding in many large-scale surveys that there is a 20% to 40% excess of males among persons with mental retardation. •[slideshare.net] Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. ‎[books.google.es] In severe cases, t hey have relatively high-pitched voices, asexual to feminine body contours as well as breast enlargement, and comparatively little facial and body hair.[www2.palomar.edu]

  • X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome

    Hum Genet 59:23–25 Google Scholar Nielsen KB, Tommerup N, Dyggve HV, Schou C (1981b) Macroorchidism, mental retardation and the fragile X.[link.springer.com] dystrophy Myotonic syndrome NARP syndrome NPHP3-related Meckel-like syndrome Nance-Horan syndrome Nasu-Hakola disease Native American myopathy Nemaline myopathy Neonatal[se-atlas.de] The best-known example is cri-du-chat syndrome, which is characterized by a high-pitched voice and is caused by a deletion in chromosome 5p3. [10] Note that most fetuses with[emedicine.medscape.com]

  • Woodhouse Sakati Syndrome

    The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, mental retardation and diabetes mellitus.[eurobuch.com] […] genetic testing for myotonic dystrophy excluded the two syndromes.[bib.irb.hr] The physical characteristics include: normal facial features, childlike high pitched voice, proportioned body, and abnormal genitalia.[howlingpixel.com]

  • Asperger Syndrome

    Differences between mentally retarded and normally intelligent autistic children. Journal of Autism and Childhood Schizophrenia 1976 ;6: 109 – 20.[doi.org] Steinert's myotonic dystrophy was diagnosed in a 10-year-old girl with Asperger syndrome.[ncbi.nlm.nih.gov] ., a flat, high-pitched, or inappropriately loud voice).[autism.about.com]

  • Seckel Syndrome

    […] protrusion, and severe mental retardation.[ncbi.nlm.nih.gov] dystrophy 斎藤加代子 260 137 myxoma, intracardiac 天本なぎさ 262 138 nail-patella syndrome 園田 徹 264 139 nails 園田 徹 267 140 naso-digital-acoustic syndrome, Keipert type 山口 恭子 270 141[nippon-rinsho.co.jp] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl]

Similar symptoms