DEAFNESS, AUTOSOMAL RECESSIVE 28

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB28
Number of Symptoms 4
OrphanetNr:
OMIM Id: 609823
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
2
(OMIM) Hearing loss, sensorineural, severe to profound 3 / 7739
3
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In 4 Palestinian Orthodox Christian families with hearing loss linked to the DFNB28 region, Shahin et al. (2006) found a nonsense mutation in the TRIOBP gene, arg347 to ter (R347X; 609761.0001), in homozygosity in all affected individuals. Three ...