Blepharoptosis - myopia - ectopia lentis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 1259
OMIM Id: 110150
ICD-10: Q15.8
UMLs: C1862259
MeSH: C536236
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Lens position anomaly
 -Rare eye disease
 -Rare genetic disease
Nonsyndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0100540) Palpebral edema Frequent [Orphanet] 31 / 7739
2
 (HPO:0000269) Prominent occiput Occasional [Orphanet] 43 / 7739
3
 (HPO:0007800) Increased axial globe length 3 / 7739
4
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
5
 (HPO:0007970) Congenital ptosis 7 / 7739
6
 (HPO:0000501) Glaucoma Very frequent [Orphanet] 180 / 7739
7
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
8
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
9
 (HPO:0001083) Ectopia lentis Very frequent [Orphanet] 45 / 7739
10
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
11
 (HPO:0011039) Abnormality of the helix Occasional [Orphanet] 33 / 7739
12
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
13
 (OMIM) Good levator function 1 / 7739
14
 (OMIM) Abnormally high upper eyelid creases 1 / 7739
15
 (OMIM) Levator aponeurosis disinsertion 1 / 7739
16
 (OMIM) Abnormally long globes 1 / 7739
17
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
 (OMIM) Congenital blepharoptosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: