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Microcephaly deafness syndrome is an extre … Microcephaly deafness syndrome is an extremely rare genetic disorder which consists of microcephaly, congenital hearing loss, mild intellectual disability, speech delay, low height, and facial dysmorphisms (such as low-set cup-shaped ears, protruding lower lips, micrognathia, epicanthal folds, , and a rather big distance between both eyebrows). Only 2 cases of this disorder have been recorded in medical literature; a mother and her son. The researchers who discovered this disorder (Kawashima and Tsuji, in 1987) later suggested that this disorder was inherited in an autosomal dominant manner, although the genetic cause of it has never been found. It's estimated to affect less than 1 in a million people worldwide.less than 1 in a million people worldwide.
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| http://dbpedia.org/ontology/alias
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Microcephaly-deafness syndrome, Microcephaly-deafness-intellectual disability syndrome.
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70712062
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3190
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1118737828
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http://dbpedia.org/resource/Congenital_asymmetrical_crying_facies +
, http://dbpedia.org/resource/Congenital_hearing_loss +
, http://dbpedia.org/resource/Genetics +
, http://dbpedia.org/resource/Intellectual_disability +
, http://dbpedia.org/resource/Epicanthal_fold +
, http://dbpedia.org/resource/Micrognathia +
, http://dbpedia.org/resource/Category:Rare_genetic_syndromes +
, http://dbpedia.org/resource/Microcephaly +
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, http://dbpedia.org/resource/Genetic_mutation +
, http://dbpedia.org/resource/Psychology +
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| http://dbpedia.org/property/caption
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This disorder is thought to be inherited in an autosomal dominant fashion.
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| http://dbpedia.org/property/causes
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http://dbpedia.org/resource/Genetic_mutation +
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| http://dbpedia.org/property/duration
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Life-long
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| http://dbpedia.org/property/frequency
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Very rare, only 2 cases have ever been reported.
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| http://dbpedia.org/property/name
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Microcephaly deafness syndrome
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| http://dbpedia.org/property/onset
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Conception
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| http://dbpedia.org/property/prognosis
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Good
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http://dbpedia.org/resource/Medical_genetics +
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| http://dbpedia.org/property/symptoms
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intellectual disabilities and cranio-facial abnormalities
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| http://dbpedia.org/property/synonyms
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Microcephaly-deafness syndrome, Microcephaly-deafness-intellectual disability syndrome.
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| rdfs:comment |
Microcephaly deafness syndrome is an extre … Microcephaly deafness syndrome is an extremely rare genetic disorder which consists of microcephaly, congenital hearing loss, mild intellectual disability, speech delay, low height, and facial dysmorphisms (such as low-set cup-shaped ears, protruding lower lips, micrognathia, epicanthal folds, , and a rather big distance between both eyebrows). Only 2 cases of this disorder have been recorded in medical literature; a mother and her son. The researchers who discovered this disorder (Kawashima and Tsuji, in 1987) later suggested that this disorder was inherited in an autosomal dominant manner, although the genetic cause of it has never been found. It's estimated to affect less than 1 in a million people worldwide.less than 1 in a million people worldwide.
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| rdfs:label |
Microcephaly deafness syndrome
|
