PORETTI-BOLTSHAUSER SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 615960
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000646) Amblyopia 42 / 7739
2
 (HPO:0000556) Retinal dystrophy 65 / 7739
3
 (HPO:0000657) Oculomotor apraxia 54 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0000545) Myopia 286 / 7739
6
 (HPO:0001105) Retinal atrophy 10 / 7739
7
 (HPO:0000486) Strabismus 576 / 7739
8
 (HPO:0001270) Motor delay 322 / 7739
9
 (HPO:0000750) Delayed speech and language development 197 / 7739
10
 (HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
11
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
12
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (HPO:0002198) Dilated fourth ventricle 12 / 7739
15
 (HPO:0007033) Cerebellar dysplasia 13 / 7739
16
 (HPO:0030329) Retinal thinning 3 / 7739
17
 (HPO:0002350) Cerebellar cyst 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: