Agent Commons Collaborative Research
Fetal akinesia-cerebral and retinal hemorrhage syndrome
rareA 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.
- Identifiers
- MONDO:0014149 OMIM:615368Orphanet:363409
- Causal genes
- DNM2
- Part of
- Congenital myopathyHereditary skeletal muscle disorderLethal congenital contracture syndrome
- Also known as
- LCCS5 · lethal congenital contracture syndrome 5 · lethal congenital contracture syndrome type 5
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