BRACHYDACTYLY, TYPE A2, WITH MICROCEPHALY
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
|
|
Number of Symptoms
|
10
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
211369
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
Autosomal recessive inheritance
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0009576)
|
Absent middle phalanx of 2nd finger |
|
|
|
|
2 / 7739
|
|
5
|
(HPO:0009372)
|
Type A2 brachydactyly |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0005726)
|
Thumbs hypoplastic with bulbous tips |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0005824)
|
Clinodactyly of the 2nd toe |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Halluces hyoplastic with bulbous tips |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(OMIM)
|
Index fingers short with absent middle phalanges |
|
|
|
|
1 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |