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1,618 Possible Causes for Cognitive Defect, Lack of Developmental Milestones, Mutation in the VPS53 Gene

  • Pontocerebellar Hypoplasia Type 2E

    The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] […] infantile SCN9A Paroxysmal extreme pain disorder SLC2A1 Epilepsy, idiopathic generalized, GLUT1 deficiency syndrome, Stomatin-deficient cryohydrocytosis with neurologic defects[genda.com.ar] In the case of PCCA, the families that have it may have one of two mutations in one gene called SepSecS, or one mutation in an unrelated gene, called VPS53.[popsci.com]

  • Hyperpyrexia

    […] of expected normal physiological development Excludes: delayed puberty ( E30.0 ) R62.0 Delayed milestone Delayed attainment of expected physiological developmental stage[apps.who.int] In the majority of cases, the neurologic recovery is complete; on occasion, cognitive defects secondary to CNS damage persist.[medtextfree.wordpress.com] Late: · talker · walker R62.8 Other lack of expected normal physiological development Failure to: · gain weight · thrive Infantilism NOS Lack of growth Physical retardation[apps.who.int]

    Missing: Mutation in the VPS53 Gene
  • Epidural Hematoma

    […] movements Delays developmental milestones and motor skills Difficulty grasping and holding onto objects Muscle tone may vary, changing from extremely rigid to extremely floppy[birthinjuryguide.org] In the meantime, the most important thing you can do is observe your child and look for typical signs and symptoms of CP, including: Lack of coordination and jerky, spastic[birthinjuryguide.org]

    Missing: Mutation in the VPS53 Gene
  • Cerebral Palsy

    For example, if a child is developmentally ready to stand and explore the environment but is limited by a lack of motor control, the use of a stander should be encouraged[emedicine.com] It shows that newborn children with acquired infections, not caused by infection of the mother or of the placenta, are also prone to develop Cerebral Palsy and cognitive defects[web.archive.org] It may be noticed that developmental milestones such as smiling and rolling over are delayed or not reached. As a child develops, other symptoms may appear.[southerncross.co.nz]

    Missing: Mutation in the VPS53 Gene
  • Herpes Simplex Encephalitis

    Before the onset of illness, the patient was appropriately following her normal developmental milestones and was able to sit, stand, and walk independently.[jaoa.org] Long term sequelae of HSE include neuropsychiatric and cognitive defects, including anterograde amnesia, dysnomia, Klüver-Bucy syndrome and epilepsy [ 8 ].[raredisorders.imedpub.com] . [8] Patients with abnormal behaviour had marked cognitive impairment in the form of disorientation to time, place and person, excitement and purposeless motor movements,[neurologyindia.com]

    Missing: Mutation in the VPS53 Gene
  • Central Nervous System Disorder

    Symptoms may include: Delays in developmental milestones Increase or lack of growth in head size Changes in activity, reflexes, or movements Lack of coordination Changes in[childrenshospital.org] Common structural defects include birth defects, anencephaly, hypospadias, and spina bifida.[en.wikipedia.org] Patients who come to medical attention during childhood but after the neonatal period may have congenital defects including intellectual disability, which is mild compared[myotonic.org]

    Missing: Mutation in the VPS53 Gene
  • Acute Alcohol Intoxication

    While uncommon, ingestion of ethanol-based hand sanitizers by children may be associated with significant intoxication. We report the case of a 7-year-old with acute alcohol intoxication following hand sanitizer ingestion. Alcohol elimination in this patient followed zero-order kinetics with a clearance rate of 22.5[…][ncbi.nlm.nih.gov]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Depression

    A depression in geology is a landform sunken or depressed below the surrounding area. Depressions form by various mechanisms. Erosion-related: Blowout: a depression created by wind erosion typically in either a partially vegetated sand dune ecosystem or dry soils (such as a post-glacial loess environment). Glacial[…][en.wikipedia.org]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Hypoglycemia

    Intern Med. 2016;55(8):949-53. doi: 10.2169/internalmedicine.55.5737. Epub 2016 Apr 15. Author information 1 Department of Endocrinology and Metabolism, Dokkyo Medical University, Japan. Abstract We encountered a 62-year-old woman who experienced frequent episodes of hypoglycemia. She was diagnosed with postprandial[…][ncbi.nlm.nih.gov]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene
  • Substance Abuse Problems

    Abstract Hospital-wide rumors and anecdotal reports had suggested that there was a potentially serious problem of alcohol and drug abuse among the psychiatric patients of this hospital. The authors describe a systematic, evaluative approach which gave direct and detailed information on the nature and extent of[…][ncbi.nlm.nih.gov]

    Missing: Lack of Developmental Milestones Mutation in the VPS53 Gene

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