lethal congenital contracture syndrome 6

Term ID

DOID:0061262

Synonyms

Definition

A lethal congenital contracture syndrome characterized by multiple flexion and extension contractures resulting from lack of fetal movements, severe polyhydramnios, and absent stomach that has_material_basis_in homozygous mutation in the ZBTB42 gene on chromosome 14q32. https://pubmed.ncbi.nlm.nih.gov/25055871/

References

• MIM:616248

Ontology

Human Disease   ( DOID:0061262 )