has material basis in germline mutation in DNM2 fetal akinesia-cerebral and retinal hemorrhage syndrome https://github.com/monarch-initiative/mondo/issues/5956 https://www.malacards.org/card/lethal_congenital_contracture_syndrome_5 SCTID:763346009 Orphanet:363409 OMIM:615368 GARD:0017553 UMLS:C4706410 lethal congenital contracture syndrome 5 A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. LCCS5 MONDO:0014149 lethal congenital contracture syndrome type 5 MEDGEN:1631944 DOID:0061261 lethal congenital contracture syndrome congenital myopathy