lethal congenital contracture syndrome 8

Term ID

DOID:0061264

Synonyms

Definition

A lethal congenital contracture syndrome characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period that has_material_basis_in homozygous or compound heterozygous mutation in the ADCY6 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/24319099/

References

• MIM:616287

Ontology

Human Disease   ( DOID:0061264 )