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EEC syndrome

Disease Export to PDF
Name:
EEC syndrome
Description:
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
ORPHAcode:
1896
Synonyms:
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
TP63
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14
  • Ectrodactyly / cleft lip/palate / Ectodermal dysplasia - UGent
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AXIN2 100.00 1
    EDA 100.00 1
    WNT10A 100.00 1
    PAX9 100.00 1
    MSX1 100.00 1
    WNT10B 100.00 1
    EDAR 100.00 1
    EDARADD 100.00 1
    LRP6 100.00 1
    TP63 100.00 1
    GREM2 100.00 1