PTOSIS, HEREDITARY CONGENITAL 2

General Information (adopted from Orphanet):

Synonyms, Signs: PTOSIS, X-LINKED
PTOS2
PTOSX
Number of Symptoms 6
OrphanetNr:
OMIM Id: 300245
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000508) Ptosis 459 / 7739
2
(HPO:0001477) Compensatory chin elevation 5 / 7739
3
(HPO:0001423) X-linked dominant inheritance 69 / 7739
4
(OMIM) Absent upper-lid skin crease 1 / 7739
5
(OMIM) Ptosis, bilateral symmetric Minimal levator function, bilaterally 1 / 7739
6
(OMIM) Frontalis overaction, pronounced 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM McMullan et al. (2000) analyzed a large Caucasian pedigree from the southwest of England with dominant congenital isolated ptosis and found linkage to the X chromosome. There was no evidence of blepharophimosis, epicanthus inversus, or prevailing ocular motility ...