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EDARADD

EDAR associated via death domain

HCNC Approved Symbol
EDARADD (HGNC:14341)
Genomic Coordinates
1:236,348,259 - 236,484,930 (1q42.3-q43)
Synonyms
CR
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant
614940AD
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
614941AR

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the EDARADD gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Hypohidrotic ectodermal dysplasia
 1 (100.0%)