lethal congenital contracture syndrome 3

Term ID

DOID:0060653

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. https://www.ncbi.nlm.nih.gov/pubmed/17701898

References

• OMIM:611369
• ORDO:137783

Ontology

Human Disease   ( DOID:0060653 )