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ENHypomyelination Neuropathy-Arthrogryposis Syndrome
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Hypomyelination Neuropathy-Arthrogryposis Syndrome is related to fetal akinesia deformation sequence 1 and lethal congenital contracture syndrome. An important gene associated with Hypomyelination Neuropathy-Arthrogryposis Syndrome is ADCY6 (Adenylate Cyclase 6). Related phenotypes are hypotonia and emg abnormality
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MALACARDS
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