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Fetal Akinesia Deformation Sequence Syndrome 1

Disease ID: disease_node_19103

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DbxrefMIM:208150
SubclassofDOID_0111375, DOID_0050737
Data SourceDOID
SynonymsFADS1
Doid Labelfetal akinesia deformation sequence syndrome 1
Doid DescriptionA fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_19103
Doid IdDOID_0111377
LabelFetal Akinesia Deformation Sequence Syndrome 1