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2,073 Possible Causes for Hyperreflexia, Hypertrichosis of Eyebrows, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    […] hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia[mendelian.co] Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • Rubinstein-Taybi Syndrome

    Defects in motor skills and coordination, sometimes accompanied with hypotonia and hyperreflexia may be seen.[symptoma.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org]

    Missing: Mutation in the MLL Gene
  • Alpha-Mannosidosis

    Alpha-mannosidosis is a lysosomal storage disorder, first described by Swedish physician Okerman in 1967. In humans it is known to be caused by an autosomal recessive genetic mutation in the gene MAN2B1, located on chromosome 19, affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency.[…][en.wikipedia.org]

    Missing: Mutation in the MLL Gene
  • Xanthinuria

    Molybdenum cofactor deficiency The other inherited form of xanthinuria, termed molybdenum cofactor deficiency, presents in the neonatal period with microcephaly, hyperreflexia[emedicine.medscape.com] A macroscopic skin examination revealed congenital hypertrichosis as lanugo on his face, mainly on his upper lip, left eyebrow, and shoulder (images not shown).[jmg.bmj.com]

    Missing: Mutation in the MLL Gene
  • Hyperventilation

    Hyperventilation exercise during electroencephalography precipitated a recurrence of right hemiplegia and aphasia in a patient with Hb SS disease. Although recovery of function started within hours of the event, full recovery has not occurred six months after. Hyperventilation provocative test during[…][ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Hypoglycemia

    An 84-year-old Japanese woman with metastatic insulinoma suffered from frequent hypoglycemic events. Continuous glucose monitoring (CGM) confirmed severe and frequent symptomatic/asymptomatic hypoglycemia. After the initiation of everolimus treatment, the hypoglycemic events were rapidly eliminated. CGM revealed[…][ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Acute Hyperventilation

    Abstract In 27 comatose patients with acute head injury, 45 paired studies of regional cerebral blood flow (rCBF) were performed before and after hyperventilation. In total 676 regions were studied, and rCBF was calculated as initial slope index using the intracarotid washout technique of 133 Xe. The tests were[…][ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Hyperkalemia

    And R – Reflexes, hyperreflexia or areflexia, they’re flaccid. So, MURDER, MURDER.[nrsng.com] […] ephrons- renal failure E xcretion – Impaired MURDER M uscle weakness U rine- oliguria, anuria R espiratory distress D ecreased cardiac contractility E CG changes R eflexes- hyperreflexia[nrsng.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Acute Amphetamine Intoxication

    Symptoms Manifestations of acute overdosage with amphetamines include restlessness, tremor, hyperreflexia, rapid respiration, confusion, assaultiveness, hallucinations, panic[erowid.org] In patient [ 3 ] there was the presence of generalized hyperactivity, hypertonia and hyperreflexia.[omicsonline.org] They are usually brief and self-limited.6 Tremor, hyperreflexia, choreoathetoid movements, and bruxism (tooth grinding) are common and are thought to arise from alteration[calsprogram.org]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Psychogenic Hyperventilation

    -Exhibits possible signs of upper motor neuron dysfunction, such as Babinski reflex or hyperreflexia. -Loses reflexes with deep or prolonged coma.[quizlet.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

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