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This condition was first discovered in 1995 by Melberg et al. when they described 5 members of a 4-generation Swedish family where cerebellar ataxia and sensorineural deafness presented as an autosomal dominant trait, 4 of them had narcolepsy and 2 had diabetes mellitus. The oldest members had psychiatric symptoms, neurological anomalies, and ...
Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3. [2] [4] [7] It is inherited in an autosomal dominant manner. [2]This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who ...
It is a genetic developmental disorder [4] with clinical diversity characterized by hypoparathyroidism, sensorineural deafness and renal disease. [5] Sensorineural deafness typically presents in childhood or adolescence. Affected people usually present with hypocalcaemia, tetany, or afebrile convulsions at any age. [1]
Wolfram syndrome, also called DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is a rare autosomal-recessive genetic disorder that causes childhood-onset diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders including neurodegeneration.
ICD-10 is the 10th revision of the International Classification of Diseases (ICD), a medical classification list by the World Health Organization (WHO). It contains codes for diseases, signs and symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or diseases. [1]
Keratitis–ichthyosis–deafness syndrome (KID syndrome), also known as ichthyosiform erythroderma, corneal involvement, and deafness, presents at birth/infancy and is characterized by progressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness.
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
Therefore, it may have been possible for an individual to have communication challenges but not meet the criteria of being "substantially below" criteria of the DSM IV-TR. The DSM diagnoses did not comprise a complete list of all communication disorders, for example, auditory processing disorder is not classified under the DSM or ICD-10. [8]