ALAGILLE SYNDROME 2
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AND LEUKOENCEPHALOPATHY
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AORTIC VALVE DISEASE 1
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CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT (CADASIL)
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CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS
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CONTRACTURAL ARACHNODACTYLY, CONGENITAL
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CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2
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CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1B
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CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA
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CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
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DONNAI-BARROW SYNDROME
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EXUDATIVE VITREORETINOPATHY 4, AUTOSOMAL RECESSIVE
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FH PORI
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HYPERCHOLESTEROLEMIA, FAMILIAL
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LEBER CONGENITAL AMAUROSIS 8 (LCA8)
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MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO
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MARFAN SYNDROME
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MARFAN SYNDROME, AUTOSOMAL RECESSIVE
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MARFAN SYNDROME, CLASSIC
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MARFAN SYNDROME, MILD
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MARFAN SYNDROME, MILD VARIABLE
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MARFAN SYNDROME, NEONATAL
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MARFAN SYNDROME, SEVERE CLASSIC
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MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
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OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS
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PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
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RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
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RETINITIS PIGMENTOSA 12
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RETINITIS PIGMENTOSA 12 (RP12)
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SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE
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THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT
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THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
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THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
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VARIANT OF UNKNOWN SIGNIFICANCE
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