BRACHYDACTYLY, TYPE E, WITH ATRIAL SEPTAL DEFECT, TYPE II

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 113301
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:0000311) Round face 104 / 7739
2
 (HPO:0005863) Type E brachydactyly 4 / 7739
3
 (HPO:0010743) Short metatarsal 56 / 7739
4
 (HPO:0010044) Short 4th metacarpal 14 / 7739
5
 (HPO:0004322) Short stature 1232 / 7739
6
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
7
 (HPO:0001631) Atria septal defect 274 / 7739
8
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
 (OMIM) Variable short metatarsals 2 / 7739
10
 (MedDRA:10072883) Brachydactyly 153 / 7739
11
 (OMIM) Short metacarpals, esp. 4th 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: