Visualize Submit Comment
Metadata
ID DOID:0061262
PURL http://purl.obolibrary.org/obo/DOID_0061262 Copy
Name lethal congenital contracture syndrome 6
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/
Xrefs

MIM:616248

Parent Relationships

is_a lethal congenital contracture syndrome

Add an item to the term tracker