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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
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001262 | Excessive daytime somnolence |
| HP:0000347 | Micrognathia |
| HP:0001989 | Fetal akinesia sequence |
| HP:0000175 | Cleft palate |
| HP:0001511 | Intrauterine growth retardation |
| HP:0000476 | Cystic hygroma |
| HP:0000028 | Cryptorchidism |
| HP:0001059 | Pterygium |
| HP:0001561 | Polyhydramnios |
| HP:0000316 | Hypertelorism |
