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fetal akinesia deformation sequence syndrome
Summary
- Synonym
-
- FADS
- Pena-Shokeir syndrome type 1
- arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
- fetal akinesia sequence
- foetal akinesia deformation sequence syndrome
- foetal akinesia sequence
- Definition
- A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction.
- Super Class
- monogenic disease syndrome
External Links
- Disease Ontology
- DOID:0111375
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
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
