Ptosis - strabismus - ectopic pupils
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
McPherson-Hall syndrome
|
|
Number of Symptoms
|
6
|
|
OrphanetNr:
|
2999
|
|
OMIM Id:
|
178330
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
1
family
[Orphanet]
|
|
Inheritance:
|
Autosomal dominant
[Orphanet]
|
|
Age of onset:
|
All ages
[Orphanet]
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Ptosis
-Rare eye disease
-Rare genetic disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
2
|
(HPO:0000615)
|
Abnormality of the pupil |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
5
|
(OMIM)
|
Ectopic pupil |
|
|
|
|
3 / 7739
|
|
6
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |