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1,309 Possible Causes for Caused by Mutation in the DMX-like 2 Gene (DMXL2), Dysmorphic Face, Small Testicular Volume

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

  • Klinefelter Syndrome

    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] The treatment of men with Klinefelter syndrome has been thought to be limited by the small testicular volume, extensive tubular sclerosis, and high FSH typically found for[dx.doi.org] Testicular volume is typically less than 10 ml in postpubertal 47,XXY individuals [ 5 ].[ncbi.nlm.nih.gov]

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

    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] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com] Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external[ncbi.nlm.nih.gov]

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

    Testicular size was small (median volume, 8.7 ml; range, 3.5–18.3 ml in adults). All semen samples showed severe oligoasthenozoospermia or azoospermia.[academic.oup.com] : Dysmorphic Muscle weakness Treatment: Avoid fasting longer than 12 hours Laboratory Acute metabolic acidosis Ethylmalonate excretion: High SCAD deficiency: Generalized No[neuromuscular.wustl.edu] The fact that patients with MUL and SRS both are gracile with similar facial dysmorphism makes SRS the most important differential diagnosis.[jmg.bmj.com]

    Missing: Caused by Mutation in the DMX-like 2 Gene (DMXL2)
  • Klinefelter Syndrome with XY/XXY Mosaic

    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] Assessing testicular volume may be a challenge, but there are standards that may be applied throughout infancy and adolescence.[dermatologyadvisor.com] Any male at any age with apparent small phallus, hypospadias, and small firm testes deserves chromosomal analysis.[dermatologyadvisor.com]

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

    […] testes – volume typically 3 Lack of secondary sexual characteristics Most common cause is Klinefelter syndrome Postpubertal hypogonadism Sexual – decreased libido, erectile[arupconsult.com] On physical examination, microcephaly, some dysmorphic face features, and ambiguous genitalia were determined.[ncbi.nlm.nih.gov] Presentation Manifestations depend on Age of onset Duration of deficiency Severity of deficiency Prepubertal/pubertal hypogonadism Eunuchoidal body habitus Gynecomastia Small[arupconsult.com]

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

    Da Wikimedia Commons, l'archivio di file multimediali liberi Jump to navigation Jump to search Radiologia : Ultrasuoni sindrome di Marfan patologia autosomica dominante che colpisce il tessuto connettivo Carica un file multimediale Wikipedia Istanza di malattia, Designated intractable/rare diseases Sottoclasse di marfanoid,[…][commons.wikimedia.org]

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

    testicular volume SKIN, NAILS, HAIR: [Hair]; Partial frontal alopecia NEUROLOGIC: [Central nervous system]; Mental retardation, moderate; Dysarthria; Dystonia; Ataxia; Pyramidal[findzebra.com] […] by mutation in the DMX-like 2 gene (DMXL2, 612186.0001) Description Hall (1965) described 5 families in which 14 cases of myxedema occurred in addition to the 5 probands.[findzebra.com] […] growth retardation HEAD AND NECK: [Head]; Partial frontal alopecia; [Ears]; Progressive hearing loss; [Nose]; Normal sense of smell GENITOURINARY: [External genitalia, male]; Small[findzebra.com]

    Missing: Dysmorphic Face
  • Skeletal Dysplasia

    Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

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

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

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

    Abstract Growth hormone deficiency (GHD) diagnosed in childhood may persist into adult life. After attainment of final height, retesting of the patient's growth hormone-insulin-like growth factor (GH-IGF) axis using the adult GHD diagnostic criteria should be performed after an appropriate interval of 1-3 months off[…][ncbi.nlm.nih.gov]

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