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Metadata
ID DOID:0111377
Name fetal akinesia deformation sequence syndrome 1
Definition A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in MUSK on chromosome 9q31.3.
https://www.ncbi.nlm.nih.gov/pubmed/25537362
Xrefs

OMIM:208150

Synonyms

FADS1 [EXACT]

Parent Relationships

is_a fetal akinesia deformation sequence syndrome

is_a autosomal recessive disease

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