Ectopia lentis - chorioretinal dystrophy - myopia

General Information (adopted from Orphanet):

Synonyms, Signs: Noble-Bass-Sherman syndrome
Number of Symptoms 9
OrphanetNr: 1884
OMIM Id:
ICD-10: Q15.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lens position anomaly
 -Rare eye disease
 -Rare genetic disease
Retinal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001083) Ectopia lentis Very frequent [Orphanet] 45 / 7739
2
 (HPO:0000505) Visual impairment Very frequent [Orphanet] 297 / 7739
3
 (HPO:0001131) Corneal dystrophy Frequent [Orphanet] 56 / 7739
4
 (HPO:0000615) Abnormality of the pupil Frequent [Orphanet] 39 / 7739
5
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
6
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
7
 (HPO:0000504) Abnormality of vision Very frequent [Orphanet] 22 / 7739
8
 (HPO:0000512) Abnormal electroretinogram Very frequent [Orphanet] 61 / 7739
9
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: