BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 615722
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:0000486) Strabismus 576 / 7739
2
 (HPO:0007663) Reduced visual acuity 100 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739
4
 (HPO:0000543) Optic disc pallor 67 / 7739
5
 (HPO:0001123) Visual field defect 30 / 7739
6
 (HPO:0000505) Visual impairment 297 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0001182) Tapered finger 93 / 7739
10
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: