lethal congenital contracture syndrome 12

Term ID

DOID:0061268

Synonyms

Definition

A lethal congenital contracture syndrome characterized by onset in utero that results in death in utero or during the perinatal period unless there is significant medical intervention, including mechanical ventilation and parenteral/ tube-feeding; however these patients also die in infancy or in the first years of life that has_material_basis_in homozygous mutation in the dystonin gene on chromosome 6p12. https://pubmed.ncbi.nlm.nih.gov/40497796/

References

• MIM:621511

Ontology

Human Disease   ( DOID:0061268 )