lethal congenital contracture syndrome 1

Term ID

DOID:0060559

Synonyms

• LCCS1
• multiple contracture syndrome, Finnish type

Definition

A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/9683599

References

• GARD:3227
• MESH:C537194
• OMIM:253310
• ORDO:1486
• SNOMEDCT_US_2023_03_01:715418007
• UMLS_CUI:C1854664

Ontology

Human Disease   ( DOID:0060559 )