Term Name: | lethal congenital contracture syndrome 3 |
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Synonyms: | Israeli Bedouin type B multiple contracture syndrome |
Definition: | A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. |
Ontology: | Human Disease [DOID:0060653] ( DOID:0060653 ) |