Human genes for early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome [DOID:0111333]
A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2.
Synonyms: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome, DOID:0111333, earlyonset myopathyareflexiarespiratory distressdysphagia syndrome, early-onset myopathy-areflexia-respiratory distress-dysphagia disease, early-onset myopathy-areflexia-respiratory distress-dysphagia disorder ...