ARTHROGRYPOSIS, DISTAL, TYPE 2E

General Information (adopted from Orphanet):

Synonyms, Signs: CONTRACTURES OF FINGERS AND JAW
Number of Symptoms 16
OrphanetNr:
OMIM Id: 121070
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:0000160) Narrow mouth 188 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0011234) Absent antihelix 1 / 7739
5
 (HPO:0100492) Joint contractures involving the joints of the feet 1 / 7739
6
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
7
 (HPO:0005684) Distal arthrogryposis 31 / 7739
8
 (HPO:0001762) Talipes equinovarus 309 / 7739
9
 (HPO:0009473) Joint contracture of the hand 84 / 7739
10
 (OMIM) Horizontal depression above the chin 1 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (OMIM) Microcephaly, mild 4 / 7739
13
 (OMIM) Severe flexion contractures of hands and feet 1 / 7739
14
 (HPO:0040196) Mild microcephaly 1 / 7739
15
 (OMIM) Subluxation of fingers 1 / 7739
16
 (OMIM) Limited jaw movement 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: