DEAFNESS, AUTOSOMAL RECESSIVE 84A

General Information (adopted from Orphanet):

Synonyms, Signs: DEAFNESS, AUTOSOMAL RECESSIVE 84
DFNB84A
DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION
DFNB84
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613391
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:0000408) Progressive sensorineural hearing impairment 28 / 7739
2
(HPO:0001751) Vestibular dysfunction 19 / 7739
3
(HPO:0000365) Hearing impairment 539 / 7739
4
(HPO:0001270) Motor delay 322 / 7739
5
(HPO:0003593) Infantile onset 249 / 7739
6
(OMIM) Mildly delayed motor development due to vestibular dysfunction 1 / 7739
7
(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 2 unrelated families with autosomal recessive sensorineural hearing loss and vestibular dysfunction. In a Dutch family, 2 adult sibs had bilateral, symmetric, sensorineural, hearing loss that was likely congenital. Neither patient developed normal ...
Molecular genetics OMIM In affected members of 2 unrelated families with autosomal recessive nonsyndromic sensorineural hearing loss with vestibular dysfunction (DFNB84A), Schraders et al. (2010) identified respective homozygous mutations in the PTPRQ gene (603317.0001 and 603317.0002).