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SIX2-related frontonasal dysplasia

Disease Export to PDF
Name:
SIX2-related frontonasal dysplasia
Description:
A rare frontonasal dysplasia characterized by a craniofacial phenotype comprising frontal bossing with high anterior hairline, ptosis, hypertelorism, epicanthus inversus, flat nasal bridge, and broad nasal tip. Large anterior fontanelle, sagittal synostosis, and cranial base anomalies have also been described.
ORPHAcode:
488437
Synonyms:
SIX2-related FND
XREF(s):
Orphanet
Analyte(s):
SIX2
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ACE 100.00 1 NM_000789.4
    ACTG2 100.00 1 NM_001615.4
    AGT 100.00 1 NM_001384479.1
    AGTR1 100.00 1 NM_000685.5
    ANOS1 100.00 1 NM_000216.4
    BMP4 100.00 1 NM_001202.6
    BMP7 100.00 1 NM_001719.3
    CDC5L 100.00 1 NM_001253.4
    CHD1L 100.00 1 NM_004284.6
    CHD7 100.00 1 NM_017780.4
    DSTYK 100.00 1 NM_015375.3
    EYA1 100.00 1 NM_000503.6
    FGF20 100.00 1 NM_019851.3
    FRAS1 100.00 1 NM_025074.7
    FREM1 100.00 1 NM_001379081.2
    FREM2 100.00 1 NM_207361.6
    GATA3 100.00 1 NM_001002295.2
    GLI3 100.00 1 NM_000168.6
    GREB1L 100.00 1 NM_001142966.3
    GRIP1 100.00 1 NM_001366722.1
    HNF1B 100.00 1 NM_000458.4
    ITGA8 100.00 1 NM_003638.3
    NOTCH2 99.00 1 NM_024408.4
    NPHP3 100.00 1 NM_153240.5
    PAX2 100.00 1 NM_000278.5
    PBX1 100.00 1 NM_002585.4
    REN 100.00 1 NM_000537.4
    RET 100.00 1 NM_020975.6
    ROBO2 100.00 1 NM_001395656.1
    RPGRIP1L 96.00 1 NM_015272.5
    SALL1 100.00 1 NM_002968.3
    SALL4 100.00 1 NM_020436.5
    SIX1 100.00 1 NM_005982.4
    SIX2 100.00 1 NM_016932.5
    SIX5 100.00 1 NM_175875.5
    SOX17 100.00 1 NM_022454.4
    TBX18 100.00 1 NM_001080508.3
    UMOD 100.00 1 NM_003361.4
    UPK3A 100.00 1 NM_006953.4
    WNT4 100.00 1 NM_030761.5
    AGTR2 100.00 1 NM_000686.5
    AGXT 100.00 1 NM_000030.3
    BNC2 100.00 1 NM_017637.6
    CCNQ 100.00 1 NM_152274.5
    CEP55 100.00 1 NM_018131.5
    CHRM3 100.00 1 NM_001375978.1
    CHRNA3 100.00 1 NM_000743.5
    CTU2 100.00 1 NM_001012759.3
    FOXC1 100.00 1 NM_001453.3
    GPC3 100.00 1 NM_004484.4
    HOXA13 100.00 1 NM_000522.5
    HPSE2 100.00 1 NM_021828.5
    JAG1 100.00 1 NM_000214.3
    KIF14 100.00 1 NM_014875.3
    LIFR 100.00 1 NM_001127671.2
    LRIG2 100.00 1 NM_014813.3
    LRP4 100.00 1 NM_002334.4
    NADSYN1 100.00 1 NM_018161.5
    ROBO1 100.00 1 NM_002941.4
    SDCCAG8 100.00 1 NM_006642.5
    SLIT2 100.00 1 NM_004787.4
    STRA6 100.00 1 NM_022369.4
    TBC1D1 100.00 1 NM_001396959.1
    TFAP2A 100.00 1 NM_001372066.1
    TMEM260 100.00 1 NM_017799.4
    TRAP1 100.00 1 NM_016292.3
    WFS1 100.00 1 NM_006005.3
    ZIC3 100.00 1 NM_003413.4
    ZMYM2 100.00 1 NM_197968.4