fetal akinesia deformation sequence syndrome 1

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Summary

Literature (0)

DOID:0111377 - fetal akinesia deformation sequence syndrome 1

Disease Ontology Definition:A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3.

Synonyms: FADS1

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: musk, rapsn, dok7

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), fetal akinesia deformation sequence syndrome (is_a)