Disease #00340 (JDSSCDHD (joint dislocations, multiple, short stature, craniofacial dysmorphism, congenital heart defects (JDSSCDHD)), OMIM:245600)
Official abbreviation |
JDSSCDHD |
Name |
joint dislocations, multiple, short stature, craniofacial dysmorphism, congenital heart defects (JDSSCDHD) |
OMIM ID |
245600 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
- |
Individuals reported having this disease |
2 |
Phenotype entries for this disease |
2 |
Associated with 1 gene |
B3GAT3 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
|
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