DISTICHIASIS WITH CONGENITAL ANOMALIES OF THE HEART AND PERIPHERALVASCULATURE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 126320
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0009743) Distichiasis 9 / 7739
2
(HPO:0002619) Varicose veins 11 / 7739
3
(HPO:0001629) Ventricular septal defect 316 / 7739
4
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
5
(HPO:0001643) Patent ductus arteriosus 228 / 7739
6
(HPO:0005794) Arterial disease of legs 1 / 7739
7
(HPO:0001688) Sinus bradycardia 18 / 7739
8
(HPO:0010741) Edema of the lower limbs 34 / 7739
9
(OMIM) Wandering atrial pacemaker 1 / 7739
10
(OMIM) Stress-induced asystole 1 / 7739
11
(OMIM) Double rows of eyelashes 2 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: