Main clinical features of fetal akinesia deformation sequence (FADS):
• decreased fetal movements
• contractures (= shortened muscles)
• excessive fluid accumulation in the fetus (= hydrops)
• fetal anomalies (for example cleft palate)
Main clinical features of congenital myasthenic syndromes (CMS):
• muscle fatigability and weakness
• drooping eyelids (= ptosis)
• paralysis of the muscles that control eye movements (= ophthalmoplegia)
• respiratory insufficiency
• episodes of cessation of breathing (= apneic episodes)
• feeding difficulties
• poor suck and cry
• contractures (= shortened muscles)
• global developmental delay
• gastroesophageal reflux
SLC18A3