lethal congenital contracture syndrome 1

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Summary

Literature (0)

DOID:0060559 - lethal congenital contracture syndrome 1

Disease Ontology 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.

Synonyms: LCCS1, multiple contracture syndrome, Finnish type

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gle1

MIM:

MIM:253310 - lethal congenital contracture syndrome 1; lccs1

MIM:253310 - lethal congenital contracture syndrome 1; lccs1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): lethal congenital contracture syndrome (is_a)