DEAFNESS, AUTOSOMAL RECESSIVE 25

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB25
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613285
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000365) Hearing impairment 539 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schraders et al. (2010) reported 3 sibs from a nonconsanguineous Dutch family, 1 sporadic Dutch patient, and affected members of 2 consanguineous Pakistani families with DFNB25. The 4 Dutch patients exhibited normal development of speech despite the very ...
Molecular genetics OMIM In a nonconsanguineous Dutch family and a sporadic Dutch patient with nonsyndromic hearing impairment mapping to 4p13 and 10 consanguineous Pakistani families with NSHI, Schraders et al. (2010) analyzed exon 1 of the ATP8A1 gene and all exons ...