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Weaver syndrome

Disease Export to PDF
Name:
Weaver syndrome
Description:
Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.
ORPHAcode:
3447
Synonyms:
Camptodactyly-overgrowth-unusual facies syndrome
XREF(s):
Orphanet
OMIM
ICD-10
OMIM
MeSH
OMIM
Analyte(s):
EED
NSD1
EZH2
SUZ12
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Overgrowth (24 genes) - IPG
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ADARB2 100.00 1 NM_018702.4
    AKT1 100.00 1 NM_001014431.2
    AKT3 100.00 1 NM_005465.7
    BRWD3 100.00 1 NM_153252.5
    CDKN1C 100.00 1 NM_001362474.2
    CHD3 100.00 1 NM_001005273.3
    CHD8 100.00 1 NM_001170629.2
    DIS3L2 100.00 1 NM_152383.4
    DNMT3A 100.00 1 NM_175629.2
    EED 100.00 1 NM_003797.5
    EZH2 100.00 1 NM_004456.5
    GPC3 100.00 1 NM_001164617.2
    H1-4 100.00 1 NM_005321.3
    KMT5B 100.00 1 NM_017635.5
    MTOR 100.00 1 NM_004958.4
    NFIX 100.00 1 NM_002501.4
    NSD1 100.00 1 NM_022455.4
    PDGFRB 100.00 1 NM_002609.4
    PIK3CA 100.00 1 NM_006218.4
    PPP2R5C 100.00 1 NM_001161725.1
    PPP2R5D 100.00 1 NM_006245.4
    PTEN 100.00 1 NM_000314.8
    SETD2 100.00 1 NM_014159.6
    TCF20 100.00 1 NM_005650.3