Create issue ticket

1,167 Possible Causes for Hearing Impairment, Muscle Hypotonia

  • Wolf Hirschhorn Syndrome

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

  • Rubinstein-Taybi Syndrome

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

  • 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.[] People who have Down syndrome have learning difficulties, mental retardation, a characteristic facial appearance, and poor muscle tone (hypotonia) in infancy.[] 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[]

  • 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.[] 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[] , clumsiness and frequent falls (ataxia) Decreased muscle tone (hypotonia) Seizures Delayed developmental milestones in young children Hearing loss Learning difficulties Problems[]

  • Alpha-Mannosidosis

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

  • Musculocontractural Ehlers-Danlos Syndrome

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

  • 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.[]

  • Propionic Acidemia

    Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[] 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[] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[]

  • 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[] impairment Osteoporosis/osteopenia Treatment Enzyme replacement therapy (ERT) Until recently in the UK treatment for Pompe disease was limited to supportive therapy.[] Although each patient can present individual peculiarities, the most characteristic symptoms are muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver[]

  • Osteoporosis-Pseudoglioma Syndrome

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

Further symptoms

Similar symptoms