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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1272 | CNTN1 | contactin 1 | |
| 1798 | DPAGT1 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2632 | GBE1 | 1,4-alpha-glucan branching enzyme 1 | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 94005 | PIGS | phosphatidylinositol glycan anchor biosynthesis class S | |
| 375790 | AGRN | agrin |
Related Glycoprotein
