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    ANCR Angelman syndrome chromosome region [ Homo sapiens (human) ]

    Gene ID: 282, updated on 16-Jul-2017
    Official Symbol
    ANCRprovided by HGNC
    Official Full Name
    Angelman syndrome chromosome regionprovided by HGNC
    Primary source
    HGNC:HGNC:482
    Gene type
    other
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Angelman syndrome (AS) is characterized by developmental delay, intellectual disability, movement or balance disorders, seizures, and limitations in speech and language development. Most cases of AS are caused by deletion in the 15q11-q13 region of the maternal chromosome. Prader-Willi syndrome (PWS) is a clinically distinct disorder resulting from paternal deletion of the 15q11-q13 region. Clinical features similar to AS are also shown in chromosome 15q11-q13 duplication syndrome. [provided by RefSeq, Jul 2017]
    Annotation information
    Annotation category: not annotated on reference assembly

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