lethal congenital contracture syndrome 10

Term ID

DOID:0061266

Synonyms

Definition

A lethal congenital contracture syndrome characterized by fetal akinesia, multiple contractures, shortening of upper and lower limbs, and narrow chest and thorax that has_material_basis_in homozygous mutation in the NEK9 gene on chromosome 14q24. https://pubmed.ncbi.nlm.nih.gov/26908619/

References

• MIM:617022

Ontology

Human Disease   ( DOID:0061266 )