ARTHROGRYPOSIS, DISTAL, WITH MENTAL RETARDATION AND CHARACTERISTICFACIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 208081
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.

Symptom Information: Sort by abundance 

1
 (HPO:0000271) Abnormality of the face 108 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
4
 (HPO:0005684) Distal arthrogryposis 31 / 7739
5
 (HPO:0001188) Hand clenching 9 / 7739
6
 (HPO:0000774) Narrow chest 167 / 7739
7
 (HPO:0002878) Respiratory failure 57 / 7739
8
 (HPO:0002093) Respiratory insufficiency 410 / 7739
9
 (HPO:0003199) Decreased muscle mass 27 / 7739
10
 (OMIM) Chin grooved 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Congenital hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: