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MIRAGE
fetal akinesia deformation sequence syndrome 3
Summary
- Synonym
-
- FADS3
- Definition
- A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3.
- Super Class
- autosomal recessive disease fetal akinesia deformation sequence syndrome
External Links
- Disease Ontology
- DOID:0111376
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q18PE1 | Protein Dok-7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0100490 | Camptodactyly of finger |
| HP:0002375 | Hypokinesia |
| HP:0003700 | Generalized amyotrophy |
