NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: NYSTAGMUS, CONGENITAL MOTOR, 2
NYS2
Number of Symptoms 11
OrphanetNr:
OMIM Id: 164100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007663) Reduced visual acuity 100 / 7739
2
(HPO:0000666) Horizontal nystagmus 32 / 7739
3
(HPO:0000486) Strabismus 576 / 7739
4
(HPO:0007739) Mildly reduced visual acuity 2 / 7739
5
(HPO:0000505) Visual impairment 297 / 7739
6
(HPO:0001425) Heterogeneous 132 / 7739
7
(OMIM) Dual waveform jerk movements 1 / 7739
8
(OMIM) Jerk nystagmus 1 / 7739
9
(OMIM) Asymmetric pendular movements 1 / 7739
10
(HPO:0003593) Infantile onset 249 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Allen (1942) described a family in which many affected members had congenital nystagmus, presumably inherited in an autosomal dominant pattern. Congenital nystagmus has also been observed as a probably dominant trait among the Old Order Amish of Holmes ...