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Spinal muscle atrophy (type 0)
Relevant markers:
AkinesiaHypokinesiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaTalipesParents markers:HeartContractures/arthrogryposisIntrauterine growth retardation (IUGR/SGA/FGR)
References: 2016 J Neuromuscul Dis Case series Read on PubMed Login for more details.