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Cranio-cervical dystonia with laryngeal and upper-limb involvement

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Name:
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Description:
Cranio-cervical dystonia with laryngeal and upper-limb involvement is a rare genetic, isolated dystonia characterized by a variable combination of cervical dystonia with tremor, blepharospasm, oromandibular and laryngeal dystonia. Dystonia progresses slowly and might spread to become segmental. Arm tremor and myoclonic jerks in the arms or neck have also been reported.
ORPHAcode:
420485
Synonyms:
DYT24
Dystonia 24
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
ANO3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Dystonia (68 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    PRKRA 93.20 0 NM_003690.4
    ARX 96.10 0 NM_139058.2
    CACNA1B 97.90 0 NM_000718.3
    KMT2B 98.40 0 NM_014727.2
    ADCY5 98.60 0 NM_183357.2
    CIZ1 98.80 0 NM_012127.2
    TH 99.10 0 NM_199292.2
    SMPD1 99.30 0 NM_000543.4
    CP 99.50 0 NM_000096.3
    PRRT2 99.60 0 NM_145239.2
    SUCLG1 99.60 0 NM_003849.3
    PLA2G6 99.70 0 NM_003560.3
    TBCD 99.70 0 NM_005993.4
    ANO3 99.70 0 NM_031418.3
    TOR1A 99.70 0 NM_000113.2
    GCDH 99.90 0 NM_000159.3
    NPC1 99.90 0 NM_000271.4
    FA2H 99.90 0 NM_024306.4
    TAF1 99.90 0 NM_004606.4
    SPR 99.90 0 NM_003124.4
    PTS 100.00 0 NM_000317.2
    DCAF17 100.00 0 NM_025000.3
    ATP7B 100.00 0 NM_000053.3
    SLC39A14 100.00 0 NM_015359.5
    C19ORF12 100.00 0 NM_001031726.3
    RELN 100.00 0 NM_005045.3
    ATM 100.00 0 NM_000051.3
    CACNA1A 100.00 0 NM_002143.2
    CYP27A1 100.00 0 NM_000784.3
    KCTD17 100.00 0 NM_001282684.1
    NKX2-1 100.00 0 NM_001079668.2
    PANK2 100.00 0 NM_153638.3
    VPS13A 100.00 0 NM_033305.2
    COL6A3 100.00 0 NM_004369.3
    ACTB 100.00 0 NM_001101.4
    ARSA 100.00 0 NM_000487.5
    ATP1A3 100.00 0 NM_152296.5
    AUH 100.00 0 NM_001698.2
    BCAP31 100.00 0 NM_001139441.1
    COASY 100.00 0 NM_025233.6
    DDC 100.00 0 NM_000790.3
    DRD2 100.00 0 NM_000795.3
    FTL 100.00 0 NM_000146.3
    GCH1 100.00 0 NM_000161.2
    GLB1 100.00 0 NM_000404.3
    GNAL 100.00 0 NM_001142339.2
    GNAO1 100.00 0 NM_020988.2
    GNB1 100.00 0 NM_002074.4
    HEXA 100.00 0 NM_000520.5
    HEXB 100.00 0 NM_000521.3
    HPRT1 100.00 0 NM_000194.2
    KCNMA1 100.00 0 NM_002247.3
    MECR 100.00 0 NM_016011.4
    MR1 100.00 0 NM_001194999.1
    NPC2 100.00 0 NM_006432.3
    PNKD 100.00 0 NM_015488.4
    SERAC1 100.00 0 NM_032861.3
    SGCE 100.00 0 NM_003919.2
    SLC18A2 100.00 0 NM_003054.4
    SLC19A3 100.00 0 NM_025243.3
    SLC2A1 100.00 0 NM_006516.2
    SLC30A10 100.00 0 NM_018713.2
    SLC6A3 100.00 0 NM_001044.4
    THAP1 100.00 0 NM_018105.2
    TIMM8A 100.00 0 NM_004085.3
    TUBB4A 100.00 0 NM_006087.3
    VAC14 100.00 0 NM_018052.4
    WDR45 100.00 0 NM_007075.3