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1,167 Possible Causes for Hearing Impairment, Muscle Hypotonia

  • Wolf Hirschhorn Syndrome

    Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] More than 25 genes for nonsyndromic hereditary hearing impairment have been mapped.[ncbi.nlm.nih.gov] It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure[flipper.diff.org]

  • Rubinstein-Taybi Syndrome

    In addition, there may be diminished muscle tone (hypotonia), abnormally exaggerated reflexes (hyperreflexia), a stiff, unsteady gait, infrequent bowel movements (constipation[rarediseases.org] Many children have vision problems and hearing impairments as a result of infections, attributable to an increased sensitivity to infection.[mun-h-center.se] […] iliac wings 0002869 Flexion contracture 0001371 Frontal bossing 0002007 Frontal upsweep of hair Cowlick Frontal Cowlick Upswept frontal hair [ more ] 0002236 Generalized hypotonia[rarediseases.info.nih.gov]

  • Down Syndrome

    We report a patient with non-Down syndrome AML, also known as AMKL, with monosomy 7, who was also obese and had a hearing impairment and mental retardation.[ncbi.nlm.nih.gov] People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.[genome.gov] The management of significant co-morbidities in children with DS can delay initial diagnosis of hearing impairment and assessment of suitability for CI can likewise be challenging[ncbi.nlm.nih.gov]

  • Niemann-Pick Disease Type C

    In other cases, additional symptoms develop including lack of muscle tone (hypotonia) often by 1 or 2 years of age.[rarediseases.org] There is no curative treatment for this devastating and fatal disorder and hearing impairment, balance and swallowing disorders can be seen especially late onset form of disease[ncbi.nlm.nih.gov] , clumsiness and frequent falls (ataxia) Decreased muscle tone (hypotonia) Seizures Delayed developmental milestones in young children Hearing loss Learning difficulties Problems[www1.actelion.com]

  • Alpha-Mannosidosis

    impairment (moderate-to-severe sensorineural hearing loss), gradual impairment of mental functions and speech, and often, periods of psychosis.[ncbi.nlm.nih.gov] (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy).[ismrd.org] Symptoms of the moderate form of alpha-mannosidosis include: coarse facial features hypotonia skeletal abnormalities mental retardation progressive muscle weakness hearing[egl-eurofins.com]

  • Musculocontractural Ehlers-Danlos Syndrome

    Strabismus, refractive errors, and elevated intraocular pressure, as well as hearing impairment are common in these patients.[oxfordmedicine.com] Characteristic clinical symptoms include kyphoscoliosis, muscle hypotonia, hyperextensible, thin and easy bruisable skin, atrophic scarring, hypermobility of the joints and[medical-genetics.de] impairment Deafness Hearing defect [ more ] 0000365 Hiatus hernia Stomach hernia 0002036 High palate Elevated palate Increased palatal height [ more ] 0000218 Hydronephrosis[rarediseases.info.nih.gov]

  • Primrose Syndrome

    The patient was a mentally retarded 43-year-old woman who had hearing impairment, distorted facial features, muscle atrophy, cataracts, and ossification of cartilage.[en.wikipedia.org]

  • Propionic Acidemia

    Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] It can be assumed that acute and chronic effects of accumulating metabolites on the KvLQT1/KCNE1 channel protein may similarly cause the hearing impairment of patients with[ncbi.nlm.nih.gov] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[diseaseinfosearch.org]

  • Glycogen Storage Disease Type 2

    hypotonia respiratory distress Juvenile and adult form skeletal myopathy delayed-gross motor development limb-girdle weakness respiratory issues Enzyme replacement therapy[medbullets.com] impairment Osteoporosis/osteopenia Treatment Enzyme replacement therapy (ERT) Until recently in the UK treatment for Pompe disease was limited to supportive therapy.[cuh.nhs.uk] Although each patient can present individual peculiarities, the most characteristic symptoms are muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver[tellmegen.com]

  • Osteoporosis-Pseudoglioma Syndrome

    hypotonia, obesity, mental retardation (in some cases), ligament laxity, severe osteoporosis, multiple fractures, short stature, kyphoscoliosis, hyperextensible joints, and[iofbonehealth.org] There is also intellectual and speech delay, short stature, but no hearing impairment.[bjo.bmj.com] Complete Probemix List New and improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing[mlpa.com]

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