Arthrogryposis-like syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: kuskokwim disease
Number of Symptoms 15
OrphanetNr: 1149
OMIM Id: 208200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Arthrogryposis multiplex congenita
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
2
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
3
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
4
 (HPO:0003312) Abnormal form of the vertebral bodies Occasional [Orphanet] 172 / 7739
5
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
6
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
7
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
8
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
9
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
10
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
11
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
12
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
14
 (MedDRA:10003694) Atrophy 7 / 7739
15
 (OMIM) Compensatory hypertrophy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: