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Metadata
ID DOID:0080592
Name Klippel-Feil syndrome 4
Definition A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12.
https://www.ncbi.nlm.nih.gov/pubmed/25748484
Xrefs

OMIM:616549

ORDO:447974

Subsets

DO_rare_slim

Parent Relationships

is_a Klippel-Feil syndrome

is_a autosomal recessive disease

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