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183 Possible Causes for Audiometry Abnormal, Genetic Heterogeneity

  • Usher Syndrome Type 1

    These different results support the view that the clinical heterogeneity in Usher syndrome is accounted for by an obvious genetic heterogeneity.[ncbi.nlm.nih.gov] CONCLUSIONS: The finding of a MYO7A mutation in two related Hutterite families from northern Alberta provides evidence of genetic heterogeneity in Hutterites affected by Usher[ncbi.nlm.nih.gov] The disorder is clinically and genetically heterogeneous.[ncbi.nlm.nih.gov]

  • Oculomotor Apraxia

    Hereditary ataxias are a clinically and genetically heterogeneous family of disorders defined by the inability to control gait and muscle coordination.[ncbi.nlm.nih.gov] Abstract Autosomal recessive cerebellar ataxias (ARCAs) are a phenotypically and genetically heterogeneous group of diseases.[ncbi.nlm.nih.gov] Given the nonspecific symptoms of many hereditary ataxias, precise diagnosis relies on molecular genetic testing.[ncbi.nlm.nih.gov]

  • Congenital Deafness

    Abstract Hearing impairment is the common human sensorineural disorder and is a genetically heterogeneous phenotype for which more than 100 genomic loci have been mapped so[ncbi.nlm.nih.gov] .: Genetic heterogeneity and recurrence risk of congenital intestinal aganglionsis.[link.springer.com] There is both phenotypic and genetic heterogeneity within BOR.[academic.oup.com]

  • Deafness

    Renal abnormalities observed in six patients were diverse and of dysplastic nature.[ncbi.nlm.nih.gov] Hereditary hearing loss is a clinically and genetically heterogeneous disorder associated with mutations of a large number of diverse genes.[ncbi.nlm.nih.gov] . # Contributed equally Abstract Hearing loss (HL) is a common sensory disorder in humans with high genetic heterogeneity.[ncbi.nlm.nih.gov]

  • Sensorineural Hearing Impairment

    Physical examination including fundoscopy as well as imaging showed no abnormalities.[ncbi.nlm.nih.gov] BACKGROUND: Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including[ncbi.nlm.nih.gov] Mitochondrial diseases caused by mitochondrial dysfunction are a clinically and genetically, heterogeneous group of disorders involving multiple organs, particularly tissues[ncbi.nlm.nih.gov]

  • Otosclerosis

    Investigations Audiometry is the primary investigation of choice.[patient.info] Molecular genetic testing is useful to differentiate otosclerosis from syndromic stapes ankylosis. Congenital stapes ankylosis is genetically heterogeneous.[ncbi.nlm.nih.gov] Many genes have been reported, suggesting that the disease is genetically heterogeneous.[dizziness-and-balance.com]

  • Chronic Otitis Media

    Hardy RJ, Thompson SG (1998) Detecting and describing heterogeneity in meta-analysis. Stat Med 17: 841–856. View Article Google Scholar 61.[journals.plos.org] Rye MS, Bhutta MF, Cheeseman MT, Burgner D, Blackwell JM, et al. (2011) Unraveling the genetics of otitis media: from mouse to human and back again.[journals.plos.org]

  • Mandibulofacial Dysostosis

    Audiometry and CT scanning are imperative. Look for possible cerebral anomalies. Cranial nerves Abnormalities are common in patients with craniofacial microsomia.[emedicine.com] Genetic counseling Nager syndrome is likely genetically heterogenous with confirmed autosomal dominant inheritance, but autosomal recessive inheritance is suspected based[orpha.net] MFD is not a distinct and specific genetic disease, but is in fact composed of a group of clinically and genetically heterogeneous disorders.[nature.com]

  • Mucopolysaccharidosis 3

    Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet. 1981 Aug. 20(2):152-60. [Medline]. Cohen MA, Stuart GM.[emedicine.medscape.com] Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 1981; 20: 152-60.[socialstyrelsen.se] Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin.[oapublishinglondon.com]

  • Mucopolysaccharidosis

    Abstract The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy[ncbi.nlm.nih.gov] […] comprising about 30% of the mutations responsible for MPS II result in heterogeneous phenotypes ranging from the severe to the attenuated form.[ncbi.nlm.nih.gov] Abstract Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked genetic disorder caused by a deficiency of iduronate 2-sulfatase (IDS), and missense mutations[ncbi.nlm.nih.gov]

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