1. Diseases
  2. RAPADILINO syndrome

RAPADILINO syndrome

Disease Export to PDF
Name:
RAPADILINO syndrome
Description:
A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
ORPHAcode:
3021
XREF(s):
Orphanet
OMIM
MeSH
ICD-10
Analyte(s):
RECQL4
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Craniosynostosis (32 genes) - KUL
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ASXL1 95.00 0 NM_015338.6/ interpretable range CS1>95%
    COLEC10 95.00 0 NM_006438.5/ interpretable range CS1>95%
    COLEC11 95.00 0 NM_024027.5/ interpretable range CS1>95%
    CYP26B1 95.00 0 NM_019885.4/ interpretable range CS1>95%
    EFNB1 95.00 0 NM_004429.5/ interpretable range CS1>95%
    ERF 95.00 0 NM_006494.4/ interpretable range CS1>95%
    FAM111A 95.00 0 NM_022074.4/ interpretable range CS1>95%
    FGFR1 95.00 0 NM_023110.3/ interpretable range CS1>95%
    FGFR2 95.00 0 NM_000141.5/ interpretable range CS1>95%
    FGFR3 95.00 0 NM_000142.5/ interpretable range CS1>95%
    HNRNPK 95.00 0 NM_002140.5/ interpretable range CS1>95%
    IL11RA 95.00 0 NM_001142784.3/ interpretable range CS1>95%
    IL6ST 95.00 0 NM_002184.4/ interpretable range CS1>95%
    LTBP1 95.00 0 NM_206943.4/ interpretable range CS1>95%
    MASP1 95.00 0 NM_139125.4/ interpretable range CS1>95%
    MEGF8 95.00 0 NM_001410.3/ interpretable range CS1>95%
    MSX2 95.00 0 NM_002449.5/ interpretable range CS1>95%
    POR 95.00 0 NM_001367562.3/ interpretable range CS1>95%
    RAB23 95.00 0 RAB23 NM_183227.3/ interpretable range CS1>95%
    RECQL4 95.00 0 NM_004260.4/ interpretable range CS1>95%
    RUNX2 95.00 0 NM_001024630.4/ interpretable range CS1>95%
    SIX1 95.00 0 NM_005982.4/ interpretable range CS1>95%
    SKI 95.00 0 SKI NM_003036.4/ interpretable range CS1>95%
    SLC25A24 95.00 0 NM_013386.5/ interpretable range CS1>95%
    SMAD6 95.00 0 NM_005585.5/ interpretable range CS1>95%
    SMO 95.00 0 NM_005631.5/ interpretable range CS1>95%
    TCF12 95.00 0 NM_207036.2/ interpretable range CS1>95%
    TFAP2B 95.00 0 NM_003221.4/ interpretable range CS1>95%
    TRAF7 95.00 0 NM_032271.3/ interpretable range CS1>95%
    TWIST1 95.00 0 NM_000474.4/ interpretable range CS1>95%
    ZIC1 95.00 0 NM_003412.4/ interpretable range CS1>95%
    ZNF462 95.00 0 NM_021224.6/ interpretable range CS1>95%