SLC18A3

Clinical Characteristics for Families

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