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4,651 Possible Causes for Caused by Mutation in the DMX-like 2 Gene (DMXL2), Long Arm, Small Testicular Volume

Did you mean: Caused by Mutation in the DMX-like 2 Gene (DMXL2, Long Arm, Small Testicular Volume

  • Klinefelter Syndrome

    These findings indicate that extra copies of the long arm of X have phenotypic expression, even though activated only in early development.[ncbi.nlm.nih.gov] They concluded that the decline in serum testosterone may be related to the small testicular volume and Leydig cell loss near the scars after the procedures.[web.archive.org] arm of the X chromosome, which shares some features of classical Klinefelter syndrome in many aspects, but patients are usually shorter than average height and have normal[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Polyendocrine - Polyneuropathy Syndrome

    [MIM:616113] Cytogenetic Location: 15q21.2, which is the long (q) arm of chromosome 15 at position 21.2 Molecular Location: base pairs 51,447,724 to 51,622,833 on chromosome[ghr.nlm.nih.gov] testicular volume SKIN, NAILS, HAIR: [Hair]; Partial frontal alopecia NEUROLOGIC: [Central nervous system]; Mental retardation, moderate; Dysarthria; Dystonia; Ataxia; Pyramidal[findzebra.com] arm of 21st chromosome comprised of 14 exons.[hormones.gr]

  • Klinefelter Syndrome with XY/XXY Mosaic

    arms, and in some instances will develop breast tissue.[indiana.edu] These features would include first and foremost small firm testes (low testicular volume), tall slender body habitus, and in some cases breast enlargement (gynecomastia) and[dermatologyadvisor.com] […] attention, mild dyslexia or dyspraxia, low energy levels, and difficulty socialising or expressing feelings in teenagers – growing taller than expected for the family (with long[nhs.uk]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Marfan Syndrome

    , thin fingers and long arms and legs They may have a dislocation of the lens in the eye that also causes nearsightedness or myopia that can progress quickly They may have[web.archive.org] He is extremely tall with a thin physique, a protruding chin and disproportionately long arms. Great attributes to be an Olympic swimmer.[raredr.com] The gene defect also causes the long bones of the body to grow too much. People with this syndrome have tall height and long arms and legs.[nlm.nih.gov]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2) Small Testicular Volume
  • Hypogonadism

    The syndrome is caused by deletion or disruption of a gene or genes on the proximal long arm of paternal chromosome 15 or by uniparental disomy of maternal chromosome 15.[msdmanuals.com] […] testes – volume typically 3 Lack of secondary sexual characteristics Most common cause is Klinefelter syndrome Postpubertal hypogonadism Sexual – decreased libido, erectile[arupconsult.com] […] testosterone esters; transdermal patches applied to the scrotum or other areas of the body (eg, upper arms, legs, abdomen, or back); and a recently approved 1% testosterone[bumc.bu.edu]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Multiple Endocrine Neoplasia Type 2B

    Multipoint analysis of RFLPs at FNRB, D10Z1, RBP3, and D10S15 gave a peak lod score of 7.12 at the midpoint between D10Z1 and RBP3 on the long arm (band q11).[ncbi.nlm.nih.gov] arm (band q11).[ncbi.nlm.nih.gov] […] additional results in three generations of a 15th family have disclosed a peak total lod score of 8.89 at the midpoint between the centromere markers D10Z1 and RBP3 on the long[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2) Small Testicular Volume
  • Robinow Syndrome

    The autosomal recessive form of the disorder has been linked to the ROR2 gene on position 9 of the long arm of chromosome 9.[radiopaedia.org] Injection of human chorionic gonadotropin and testosterone therapy improved penile length and testicular volume in three boys with severe micropenis [ Soliman et al 1998 ][ncbi.nlm.nih.gov] Chromosome location The location of the disease is at the 22 position on the long arm chromosome 9.[wiki.ggc.edu]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Hypogonadotropic Hypogonadism

    The bromodeoxyuridine-33258 Hoechst technique showed faint staining of the long arm of the isochromosome.[ncbi.nlm.nih.gov] Cryptorchid or maldescended testes and small testicular volume are clinical hallmarks of congenital hypogonadotropic hypogonadism (CHH) [ 1 ].[ijpeonline.biomedcentral.com] While males may grow to eunuchoid body proportions (excessively long arms and legs resulting in a decreased upper-to-lower body ratio and a wide arm span), poor breast development[symptoma.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Waisman Syndrome

    FXS is caused by a repetitive genetic error on the long arm of the X chromosome. The mutation is in a single gene called FMR1.[waisman.wisc.edu] The penis was of normal length and testicular volume was 10 ml ( 10th centile). Distal joints were hyperextensible.[jmg.bmj.com] [MIM:311510] Cytogenetic Location: Xq28, which is the long (q) arm of the X chromosome at position 28 Molecular Location: base pairs 155,258,234 to 155,264,589 on the X chromosome[ghr.nlm.nih.gov]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Persistent Polyclonal B-cell Lymphocytosis

    FISH studies using a chromosome 3 long arm-specific probe provided evidence that all cases had both i(3)(q10) and 3.[ncbi.nlm.nih.gov] An additional chromosome long arm i(3)(q10) has recently been reported as a recurrent cytogenetic aberration, contrasting with a usual polyclonal immunoglobulin expression[ncbi.nlm.nih.gov] Abnormality of the B-cell population is also evidenced by the presence of multiple bcl-2/Ig gene rearrangements and the finding of an additional long arm chromosome 3q (i3[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2) Small Testicular Volume

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