DEAFNESS, AUTOSOMAL RECESSIVE 93

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB93
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614899
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
 (OMIM) Deafness, stable bilateral symmetric prelingual 1 / 7739
3
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
4
 (OMIM) Moderate-to-severe in all frequencies, but slightly more pronounced in mid-frequencies 1 / 7739
5
 (OMIM) Normal middle ear pressures on tympanometry 1 / 7739
6
 (OMIM) Normal static compliance on tympanometry 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive deafness-93 (DFNB93) is characterized by moderate to severe prelingual deafness and a distinctive U-shaped audiogram (Tabatabaiefar et al., 2011).
Clinical Description OMIM Tabatabaiefar et al. (2011) studied a consanguineous Iranian family in which 4 sibs had stable bilateral symmetric prelingual moderate to severe deafness. Affected family members used a combination of sign language and oral communication. The hearing impairment was ...
Molecular genetics OMIM In a consanguineous Iranian family with deafness mapping to chromosome 11q12.3-q13.3, originally studied by Tabatabaiefar et al. (2011), Schrauwen et al. (2012) performed next-generation sequencing and identified a splice site mutation in the CABP2 gene (607314.0001) that was ...