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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:0002089 | Pulmonary hypoplasia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0001305 | Dandy-Walker malformation |
| HP:0002650 | Scoliosis |
| HP:0005245 | Intestinal hypoplasia |
| HP:0002304 | Akinesia |
| HP:0010489 | Absent palmar crease |
| HP:0002828 | Multiple joint contractures |
| HP:0002093 | Respiratory insufficiency |
| HP:0005280 | Depressed nasal bridge |
