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Human Disease

lethal congenital contracture syndrome 9

Term ID
DOID:0061265
Synonyms
Definition
A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from reduced or absent fetal movement that has_material_basis_in homozygous mutation in the GPR126 gene on chromosome 6q24. https://pubmed.ncbi.nlm.nih.gov/26004201/
References
Ontology
Human Disease   ( DOID:0061265 )
Relationships
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Genes Involved
Zebrafish Models