BRACHYDACTYLY, TYPE E2

General Information (adopted from Orphanet):

Synonyms, Signs: BDE2
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613382
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:0000684) Delayed eruption of teeth rare [HPO:skoehler] 117 / 7739
2
(HPO:0000677) Oligodontia rare [HPO:skoehler] 41 / 7739
3
(HPO:0010743) Short metatarsal 56 / 7739
4
(HPO:0001156) Brachydactyly syndrome 180 / 7739
5
(HPO:0010049) Short metacarpal 99 / 7739
6
(HPO:0004322) Short stature 1232 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Short metacarpals, III-V 1 / 7739
9
(OMIM) Delayed eruption, primary and secondary (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of a 3-generation family segregating autosomal dominant brachydactyly type E, short stature, and learning difficulties, Klopocki et al. (2010) performed array-based CGH and identified a 907.68-kb microdeletion on chromosome 12p that encompassed 6 known genes, ...