Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 (<i>ARX</i>) gene (Xp22.13). Transmission is X-linked recessive. Disease data Classification Malformation syndrome Synonyms Partington-Mulley syndrome Niepełnosprawność sprzężona z chromosomem X - dystonia - dyzartria Zespół Partingtona i Mulley'a X-linked intellectual disability-dystonia-dysarthria syndrome ORPHA code 94083 OMIM code 309510 ICD10 code - ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl