DEAFNESS, AUTOSOMAL RECESSIVE 98

General Information (adopted from Orphanet):

Synonyms, Signs: DFNB98
Number of Symptoms 5
OrphanetNr:
OMIM Id: 614861
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:0000407) Sensorineural hearing impairment 524 / 7739
2
(OMIM) No auditory brainstem response to 100-dB stimulus 1 / 7739
3
(OMIM) Deafness, profound, sensorineural 7 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Transient evoked otoacoustic emissions cannot be detected 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This form of autosomal recessive nonsyndromic deafness is sensorineural and shows prelingual onset (Delmaghani et al., 2012).
Clinical Description OMIM Delmaghani et al. (2012) studied a 6-generation consanguineous Iranian family in which 3 brothers, born of first-cousin parents, had nonsyndromic prelingual sensorineural deafness. The affected sibs, aged 20 to 34 years, had severely impaired language acquisition; pure-tone audiometry ...
Molecular genetics OMIM In an affected sib from a 6-generation consanguineous Iranian family segregating autosomal recessive nonsyndromic prelingual sensorineural deafness mapping to chromosome 21q22, Delmaghani et al. (2012) sequenced the candidate gene TMPRSS3, but did not detect any causative mutation. Whole-exome ...