Visualize Submit Comment
Metadata
ID DOID:0111378
Name fetal akinesia deformation sequence syndrome 2
Definition A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in RAPSN on chromosome 11p11.2.
https://www.ncbi.nlm.nih.gov/pubmed/18179903
Xrefs

OMIM:618388

Synonyms

FADS2 [EXACT]

Parent Relationships

is_a fetal akinesia deformation sequence syndrome

is_a autosomal recessive disease

Add an item to the term tracker