Partington syndrome
Definicija
Partington syndrome is a form of syndromic X-linked mental retardation (S-XLMR) characterised by the association of mild to moderate intellectual deficit, dysarthria and dystonic hand movements. So far, less than 20 cases have been described in the literature. The syndrome is caused by mutations in the Aristaless-related homeobox (ARX) gene (Xp22.13). Transmission is X-linked recessive.
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Pun naziv
Partington syndrome
Kratki naziv
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Sinonimi
X-linked intellectual disability-dystonia-dysarthria syndromePartington-Mulley syndrome
Orpha broj
Kategorija
Podkategorija
Naziv na stranom jeziku
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Prevalenca
NULL
Nasleđivanje
X-linked recessive
Period početka bolesti
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ICD 10
OMIM
UMLS
GARD
MEDDRA
Tekstualni opis
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Etiologija
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Prognoza
bolest_prognoza
Diferencijalna dijagnoza
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Tretman
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Dijagnostičke metode
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Antenatalna dijagnoza
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Epidemiologija
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Genetsko savetovanje
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Terapija
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Klinička istraživanja
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