Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O15146 | Muscle, skeletal receptor tyrosine-protein kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002375 | Hypokinesia |
| HP:0001262 | Excessive daytime somnolence |
| HP:0100490 | Camptodactyly of finger |
| HP:0000347 | Micrognathia |
| HP:0003700 | Generalized amyotrophy |
| HP:0001989 | Fetal akinesia sequence |
| HP:0000175 | Cleft palate |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0001511 | Intrauterine growth retardation |
| HP:0005280 | Depressed nasal bridge |
