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Disorders of the autonomic nervous system
Muscular dystrophies and other myopathies
Myotonias periodic paralyses and disorders of the myo neural junction
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abnormalities adult affected individuals affected males anomalies appears Arch associated atrophy autosomal dominant autosomal recessive bilateral biochemical Birth Defects bones brain carnitine carrier cells child chromosome cleft palate clinical condition congenital contractures cranial cryptorchidism deafness deficiency deformity deletion described diagnosis disease disorder distal drome dwarfism dysplasia early epicanthal folds etiology facial facies females frequently gene genetic counseling growth hypertelorism hypogonadism hypoplasia hypoplastic hypotonia increased infants karyotype lesions limb malformations manifestations ment mental retardation microcephaly micrognathia mild mode of inheritance monosomy muscle biopsy muscular dystrophy myopathy myotonia nerve Neurol neurological neuromuscular involvement normal observed occur ocular onset ophthalmoplegia parents patients Pediat phenotype pigment present ptosis radiographic rare recessive inheritance recurrence risk renal reported retinal serum severe showed siblings sibs sibship skeletal skin skull somal sporadic studies suggested surgical symptoms syndactyly syndrome tion tissue translocation Turner syndrome usually variable weakness X-linked