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Autosomal recessive hypohidrotic ectodermal dysplasia

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Name:
Autosomal recessive hypohidrotic ectodermal dysplasia
ORPHAcode:
248
Synonyms:
AR-HED
Autosomal recessive anhidrotic ectodermal dysplasia
XREF(s):
Orphanet
ICD-10
MeSH
OMIM
OMIM
OMIM
Analyte(s):
EDAR
EDARADD
WNT10A
CSTB
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