USHER SYNDROME, TYPE IJ

General Information (adopted from Orphanet):

Synonyms, Signs: USH1J
Number of Symptoms 6
OrphanetNr:
OMIM Id: 614869
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000510) Rod-cone dystrophy 266 / 7739
2
 (HPO:0001751) Vestibular dysfunction 19 / 7739
3
 (HPO:0001270) Motor delay 322 / 7739
4
 (HPO:0003577) Congenital onset 133 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (OMIM) Deafness, profound, sensorineural 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ahmed et al. (2009) reported a large consanguineous Pakistani family (PKDF117) with Usher syndrome type I. Affected individuals had congenital profound sensorineural hearing loss, delayed onset of independent ambulation consistent with vestibular dysfunction, and variable severity of retinitis ...
Molecular genetics OMIM In affected members of a large consanguineous Turkish family with Usher syndrome type IJ originally reported by Ahmed et al. (2009) as 'PKDF117,' Riazuddin et al. (2012) identified a homozygous mutation in the CIB2 gene (E64D; 605564.0004). Transfection ...