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UNC13A Related Neuromuscular Disorder
OMIM number: 609894
Comments closing date: 06/08/2024
This is an autosomal recessive condition associated with abnormalities in the UNC13A gene, OMIM *609894. Symptoms of the condition include hypotonia, abnormal facial shape, in utero fetal
growth restriction, polyhydramnios, bulbar palsy, fatigability, weakness of bulbar muscles, hypoventilation, apnoea and elbow flexion contracture. There is variation in the clinical manifestations of affected individuals but published case reports are severe and can lead to death.
Review date: 9 July 2026
