NYSTAGMUS 3, CONGENITAL, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: NYS3
Number of Symptoms 10
OrphanetNr:
OMIM Id: 608345
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007286) Horizontal jerk nystagmus 1 / 7739
2
(OMIM) Frequency 6 Hz in lateral gaze 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Visual acuity is normal 1 / 7739
5
(OMIM) Small rotary component may be present 1 / 7739
6
(OMIM) Jerking may be unidirectional, periodically alternating, or mixed pendular and jerk-like 1 / 7739
7
(OMIM) Nystagmus is accentuated by fixation, lateral gaze, smooth pursuit 1 / 7739
8
(OMIM) Frequency 3.5 Hz in midline 1 / 7739
9
(OMIM) Nystagmus decreases on convergence 1 / 7739
10
(OMIM) Nystagmus, jerky, horizontal, congenital 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Patton et al. (1993) reported a family with autosomal dominant congenital nystagmus. The history of the disorder in this family extended over 4 generations with male to male transmission, but the proband's grandfather and great-grandfather were deceased at ...