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fetal akinesia deformation sequence syndrome 1
Summary
- Synonym
-
- FADS1
- Definition
- A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
- Super Class
- autosomal recessive disease fetal akinesia deformation sequence syndrome
External Links
- Disease Ontology
- DOID:0111377
- Mondo Disease Ontology
- OMIM
Related Genes
- 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 |
