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Odonto-onycho-dermal dysplasia

Disease Export to PDF
Name:
Odonto-onycho-dermal dysplasia
Description:
A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).
ORPHAcode:
2721
Synonyms:
OODD
XREF(s):
Orphanet
OMIM
MeSH
ICD-10
Analyte(s):
WNT10A
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