DEAFNESS, AUTOSOMAL DOMINANT 28

General Information (adopted from Orphanet):

Synonyms, Signs: DFNA28
Number of Symptoms 7
OrphanetNr:
OMIM Id: 608641
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:0008527) Congenital sensorineural hearing impairment 165 / 7739
2
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
3
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
 (HPO:0003676) Progressive disorder 148 / 7739
6
 (OMIM) Severe loss in the higher frequencies by the fifth decade 1 / 7739
7
 (OMIM) Mild to moderate hearing loss across most frequencies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Peters et al. (2002) reported a large American family in which 11 members spanning 5 generations were affected with sensorineural hearing loss. Affected individuals showed a mild to moderate hearing loss across most frequencies that progressed to severe ...
Molecular genetics OMIM In affected members of the American family with DFNA28, Peters et al. (2002) identified a heterozygous frameshift mutation in the GRHL2 gene (608576.0001).

In the proband of a large 5-generation family segregating autosomal dominant postlingual hearing ...