Arthrogryposis due to muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 23
OrphanetNr: 1155
OMIM Id: 253900
ICD-10: M62.8
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: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis
Congenital muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
2
 (HPO:0005988) Congenital muscular torticollis Frequent [Orphanet] 11 / 7739
3
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
4
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
5
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
6
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
7
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
8
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
9
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
10
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
11
 (HPO:0006568) Increased hepatic glycogen content Occasional [Orphanet] 34 / 7739
12
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
13
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
14
 (HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
15
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
16
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
17
 (HPO:0002486) Myotonia Very frequent [Orphanet] 29 / 7739
18
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
19
 (OMIM) Multiple fetal contractures 1 / 7739
20
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
21
 (OMIM) Arthrogryposis syndrome 1 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
 (OMIM) Skeletal muscle replaced by adipose connective tissue 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: