NYSTAGMUS 6, CONGENITAL, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: NYS6
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300814
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000484) Hyperopic astigmatism 8 / 7739
2
(HPO:0000646) Amblyopia 42 / 7739
3
(HPO:0000666) Horizontal nystagmus 32 / 7739
4
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Liu et al. (2007) reported a large 6-generation Chinese family in which 8 affected males had nystagmus. Foveal hypoplasia and decreased visual acuity were also present in 4 affected males. Three of the affected males and 1 carrier ...
Molecular genetics OMIM In a large 6-generation Chinese family with a 'variant phenotype of ocular albinism' mapping to Xp22, Liu et al. (2007) analyzed 21 candidate genes and identified a missense mutation in the GPR143 gene (S89F; 300808.0009) in affected males ...