ASPARAGINE SYNTHETASE DEFICIENCY
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(OMIM:615574)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14
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(OMIM:615350)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5
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(OMIM:613153)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6
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(OMIM:613154)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3
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(OMIM:613151)
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OSTEOGENESIS IMPERFECTA, TYPE XV
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(OMIM:615220)
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PONTOCEREBELLAR HYPOPLASIA, TYPE 2A
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(OMIM:277470)
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Pontocerebellar hypoplasia type 4
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(Orphanet:166063)
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