Term Name: | lethal congenital contracture syndrome 2 |
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Synonyms: | LCCS2, multiple contracture syndrome, Israeli-Bedouin type |
Definition: | A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. |
Ontology: | Human Disease [DOID:0060560] ( DOID:0060560 ) |