DEAFNESS, AUTOSOMAL RECESSIVE 42

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB42
Number of Symptoms 7
OrphanetNr:
OMIM Id: 609646
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
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
3
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(HPO:0003593) Infantile onset 249 / 7739
6
(OMIM) Affects all frequencies 1 / 7739
7
(HPO:0003680) Nonprogressive disorder 23 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Aslam et al. (2005) reported a consanguineous Pakistani family in which 5 members, including 4 sibs, had a prelingual nonprogressive nonsyndromic form of sensorineural deafness involving all frequencies.

Borck et al. (2011) identified 10 additional families ...

Molecular genetics OMIM Borck et al. (2011) identified 10 different homozygous mutations in the ILDR1 gene (see, e.g., 609739.0001-609739.0004) in affected members of 11 unrelated families with autosomal recessive nonsyndromic DFNB42. Seven of the mutations were predicted to result in a ...