LETHAL CONGENITAL CONTRACTURE SYNDROME 7

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616286
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
2
 (HPO:0001349) Facial diplegia 16 / 7739
3
 (HPO:0001284) Areflexia 198 / 7739
4
 (HPO:0006380) Knee flexion contracture 56 / 7739
5
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
6
 (HPO:0001989) Fetal akinesia sequence 14 / 7739
7
 (HPO:0001561) Polyhydramnios 191 / 7739
8
 (HPO:0001252) Muscular hypotonia 990 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: