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Metadata
ID DOID:0061267
PURL http://purl.obolibrary.org/obo/DOID_0061267 Copy
Name lethal congenital contracture syndrome 11
Definition A lethal congenital contracture syndrome characterized by multiple flexion and extension joint contractures resulting from reduced or absent fetal movements that has_material_basis_in homozygous or compound heterozygous mutation in the GLDN gene on chromosome 15q21.
https://pubmed.ncbi.nlm.nih.gov/27616481/
Xrefs

MIM:617194

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is_a lethal congenital contracture syndrome

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