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2,216 Possible Causes for High Inter- and Intrafamiliar Variability of Phenotype, Psychomotor Retardation, Sensorineural Hearing Loss Associated with ELSTs

  • CHARGE Syndrome

    In this report, we describe a patient with a typical phenotype characterized by psychomotor retardation, hypertrichosis, facial asymmetry, synophria, failure to thrive, developmental[ncbi.nlm.nih.gov]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Von Hippel-Lindau Disease

    ) hearing loss, sensorineural, associated with elsts Genitourinary Kidneys: multiple renal cysts renal hemangioblastoma renal cell carcinoma (e.g., ) Genitourinary Internal[malacards.org] The majority of the patients had associated audiovestibular symptoms, including sensorineural hearing loss (84% of ears), tinnitus (73%), and vertigo (68%) that did not correlate[journal.frontiersin.org] Respiratory Lung: pulmonary hemangiomas Abdomen Pancreas: multiple pancreatic cysts pancreatic hemangioblastoma Head And Neck Ears: vertigo tinnitus endolymphatic sac tumors (elsts[malacards.org]

    Missing: Psychomotor Retardation
  • Depression

    This is called psychomotor retardation.[health.com] Changes in Activity or Energy Level Physical Changes Caused by Depression Unexplained aches and pains Weight loss or gain Decreased or increased appetite Psychomotor agitation[verywell.com] Psychomotor agitation or retardation nearly every day. Fatigue or loss of energy nearly every day.[depression.org]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Endogenous Depression

    It is generally accepted that endogenous depression includes marked vegetative changes, such as loss of appetite, loss of weight, loss of sleep, psychomotor retardation or[link.springer.com] […] score, presumably measuring mainly depressive mood and psychomotor retardation.[ncbi.nlm.nih.gov] […] depression major depressive disorder characterized by signs and symptoms of psychomotor retardation, such as burdened movements and slowed, toneless speech. en·dog·e·nous[medical-dictionary.thefreedictionary.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Reactive Depression

    […] depression major depressive disorder characterized by signs and symptoms of psychomotor retardation, such as burdened movements and slowed, toneless speech. re·ac·tive de[medical-dictionary.thefreedictionary.com] “A patient who has psychomotor retardation, hypersomnia, and gaining weight is scored as having identical symptoms as another who is agitated, sleeping badly, and has weight[theatlantic.com] It is often identified with a specific symptom complex—psychomotor retardation, early morning awakening, weight loss, excessive guilt, and lack of reactivity to the environment—that[medical-dictionary.thefreedictionary.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Suicidal Depression

    Signs of depression may include the following: Psychomotor retardation or agitation, such as slowed speech, sighs, and long pauses Slowed body movements, even to the extent[emedicine.medscape.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Partial Monosomy 18q

    The other one had brachycephaly, and psychomotor retardation.[tmj.ro] retardation); and varying degrees of mental retardation.[rarediseases.org] Several reports of serum carnosinase deficiency describe a variable phenotype, which ranges from normal to severe psychomotor retardation, hypotonia, and myoclonic seizures[nature.com]

    Missing: Sensorineural Hearing Loss Associated with ELSTs
  • Leigh's Disease

    A 4 1/2-month-old girl suffered from psychomotor retardation, generalized hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age[ncbi.nlm.nih.gov] A two-and-a-half-year-old male child presented with recurrent attacks of intractable vomiting, psychomotor retardation since 14 months of age.[ncbi.nlm.nih.gov] A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement[connects.catalyst.harvard.edu]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Psychomotor Retardation

    The coexistence of TPT and psychomotor retardation in those patients and in the two patients described here suggests that TPT and psychomotor retardation could be part of[ncbi.nlm.nih.gov] At present, there are three objective scales to evaluate psychomotor retardation severity.[ncbi.nlm.nih.gov] […] between psychomotor retardation and a global attentional deficit.[ncbi.nlm.nih.gov]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs
  • Agitated Depression

    Psychomotor retardation along with a tendency to complain and to express a feeling of being misunderstood are characteristic.[symptoma.com] […] depression major depressive disorder characterized by signs and symptoms of psychomotor retardation, such as burdened movements and slowed, toneless speech. ag·i·tat·ed de[medical-dictionary.thefreedictionary.com] Agitated Major Depressive Disorder At least 2 of the following manifestations of psychomotor retardation (not more subjective anxiety) are required for several days during[depression-guide.com]

    Missing: High Inter- and Intrafamiliar Variability of Phenotype Sensorineural Hearing Loss Associated with ELSTs

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