Benign paroxysmal tonic upgaze of childhood with ataxia

General Information (adopted from Orphanet):

Synonyms, Signs: Ouvrier-Billson syndrome
Number of Symptoms 12
OrphanetNr: 1179
OMIM Id: 168885
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: Rare paroxysmal movement disorder
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000464) Abnormality of the neck 31 / 7739
2
(HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
3
(HPO:0000496) Abnormality of eye movement Very frequent [Orphanet] 79 / 7739
4
(HPO:0002312) Clumsiness 28 / 7739
5
(HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
6
(HPO:0001270) Motor delay 322 / 7739
7
(HPO:0002131) Episodic ataxia 16 / 7739
8
(HPO:0002548) Parkinsonism with favorable response to dopaminergic medication 13 / 7739
9
(OMIM) Delayed walking 13 / 7739
10
(OMIM) Forward neck bending 1 / 7739
11
(OMIM) Episodic tonic upward deviation of eyes 1 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ouvrier and Billson (1988), followed by Ahn et al. (1989), Deonna et al. (1990) and Echenne and Rivier (1992), described a 'new' paroxysmal disorder of childhood, the main features of which are bouts of tonic upward deviation of ...