NYSTAGMUS 5, CONGENITAL, X-LINKED

General Information (adopted from Orphanet):

Synonyms, Signs: NYS5
Number of Symptoms 11
OrphanetNr:
OMIM Id: 300589
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011515) Abnormal stereopsis 1 / 7739
2
(HPO:0000486) Strabismus 576 / 7739
3
(HPO:0000639) Nystagmus 555 / 7739
4
(HPO:0000484) Hyperopic astigmatism 8 / 7739
5
(OMIM) Null point shifts every few seconds to minutes 1 / 7739
6
(OMIM) Clinically 'silent' nystagmus evident on eye movement recording in carrier females 1 / 7739
7
(OMIM) Head oscillations 2 / 7739
8
(OMIM) Refractive error 4 / 7739
9
(HPO:0001423) X-linked dominant inheritance 69 / 7739
10
(OMIM) Stereopsis, limited to absent 1 / 7739
11
(OMIM) Infantile nystagmus 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cabot et al. (1999) reported a large French family in which 12 individuals spanning 4 generations had idiopathic congenital nystagmus. There were 7 affected females and 5 affected males. Nystagmus was noted at birth or in the first ...