ASPARAGINE SYNTHETASE DEFICIENCY
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(OMIM:615574)
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CEREBELLOFACIODENTAL SYNDROME
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(OMIM:616202)
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Congenital muscular dystrophy type 1A
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(Orphanet:258)
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23
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(OMIM:615859)
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MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11
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(OMIM:615181)
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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 1
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(Orphanet:2254)
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Pontocerebellar hypoplasia type 2
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(Orphanet:2524)
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Pontocerebellar hypoplasia type 3
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(Orphanet:97249)
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Pontocerebellar hypoplasia type 4
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(Orphanet:166063)
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Pontocerebellar hypoplasia type 7
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(Orphanet:284339)
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Pontocerebellar hypoplasia, type 9
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(OMIM:615809)
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