DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 3
OrphanetNr:
OMIM Id: 125050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001730) Progressive hearing impairment 29 / 7739
2
(HPO:0007476) Anhidrotic ectodermal dysplasia 4 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Helweg-Larsen and Ludvigsen (1946) reported a kindred of 14 in 5 generations with anhidrosis, 5 of whom had defective hearing with onset between 35 and 45 years of age. There were no dental or hair anomalies.

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