FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term fetal akinesia deformation sequence syndrome 1 ID (Ontology) DOID:0111377 (Human Disease)
Definition A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
Also Known As "FADS1"
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 Genes
 fetal akinesia deformation sequence syndrome 1       1
 for disease ribbon | fetal akinesia deformation sequence syndrome 1       1
 model of | fetal akinesia deformation sequence syndrome 1       1
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monogenic disease
 |__fetal akinesia deformation sequence syndrome__
autosomal genetic disease                         |
 |__autosomal recessive disease___________________|
syndrome                                          |
 |__fetal akinesia deformation sequence syndrome__|
                                                  fetal akinesia deformation sequence syndrome 1  1 rec.
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Is a autosomal recessive disease
fetal akinesia deformation sequence syndrome
Part of
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Synonyms
  • "FADS1" EXACT OMO:0003012
Secondary IDs
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MIM:208150