lethal congenital contracture syndrome 11

Term ID

DOID:0061267

Synonyms

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/

References

• MIM:617194

Ontology

Human Disease   ( DOID:0061267 )