NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs: VESTIBULOCEREBELLAR DISORDER WITH PREDOMINANT OCULAR SIGNS
NYS4
Number of Symptoms 13
OrphanetNr:
OMIM Id: 193003
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:0007179) Absent smooth pursuit 1 / 7739
2
(HPO:0011477) Upbeat nystagmus 1 / 7739
3
(HPO:0000640) Gaze-evoked nystagmus 27 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0000486) Strabismus 576 / 7739
6
(HPO:0007670) Abnormal vestibulo-ocular reflex 3 / 7739
7
(OMIM) Loss of balance may occur 1 / 7739
8
(OMIM) Poor or absent smooth pursuit 1 / 7739
9
(HPO:0003680) Nonprogressive disorder 23 / 7739
10
(OMIM) Dizziness may occur 2 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Poor vestibuloocular reflex 1 / 7739
13
(OMIM) Cerebellar origin most likely 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Harris et al. (1993) reported an unusual eye movement abnormality in 10 members of an English Caucasian family. The proband was a 7-year-old boy whose mother had been diagnosed with neurofibromatosis I (NF1; 162200) and who himself had ...