{"id":2410,"date":"2015-06-19T03:00:44","date_gmt":"2015-06-19T00:00:44","guid":{"rendered":"http:\/\/www.werathah.com\/meta\/?p=2410"},"modified":"2026-05-04T11:39:10","modified_gmt":"2026-05-04T08:39:10","slug":"leukodystrophy","status":"publish","type":"post","link":"https:\/\/www.werathah.com\/meta\/leukodystrophy\/leukodystrophy\/","title":{"rendered":"\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621"},"content":{"rendered":"<h2>\u0645\u0627 \u0647\u0648 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621\u061f<\/h2>\n<p>\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0647\u0648 \u062e\u0644\u0644 \u0641\u064a \u0627\u0644\u0637\u0628\u0642\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0641\u064a \u0627\u0644\u062f\u0645\u0627\u063a( \u0627\u0644\u062f\u0645\u0627\u063a \u064a\u0646\u0642\u0633\u0645 \u0628\u0634\u0643\u0644 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\u0634\u0647\u0631\u0647.<\/p>\n<p>\u0645\u062c\u0645\u0648\u0639\u0629 \u0645\u0646 \u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u0623\u0643\u062b\u0631 \u0634\u064a\u0648\u0639\u0627 \u0648\u0634\u0647\u0631\u0647:<\/p>\n<table border=\"1\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td valign=\"top\" width=\"249\"><b>\u0627\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u0644\u0625\u0646\u062c\u0644\u064a\u0632\u064a\u0629<\/b><b><\/b><\/td>\n<td valign=\"top\" width=\"156\"><b>\u0627\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u0644\u0639\u0631\u0628\u064a<\/b><\/td>\n<td width=\"155\"><b>\u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0627\u0644\u0631\u0626\u064a\u0633\u064a\u0629<\/b><b><\/b><\/td>\n<td width=\"117\"><b>\u0646\u0645\u0637 \u0627\u0644\u0648\u0631\u0627\u062b\u0629 <\/b><\/td>\n<td width=\"123\"><b>\u0627\u0633\u0645 \u0627\u0644\u062c\u064a\u0646<\/b><b><\/b><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">18q Syndrome with deficiency of myelin basic protein<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0627\u0644\u0630\u0631\u0627\u0639 \u0627\u0644\u0637\u0648\u064a\u0644\u0629 \u0644\u0643\u0631\u0648\u0645\u0648\u0633\u0648\u0645 18 \u0627\u0644\u0645\u0635\u062d\u0648\u0628 \u0628\u0646\u0642\u0635 \u0627\u0644\u0628\u0631\u0648\u062a\u064a\u0646 \u0627\u0644\u0623\u0633\u0627\u0633\u064a \u0644\u0644\u0645\u0627\u064a\u0644\u064a\u0646<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u063a\u0627\u0644\u0628\u0627 \u0639\u0627\u0631\u0636 \u0644\u0643\u0646 \u0631\u0628\u0645\u0627 \u064a\u0643\u0648\u0646 \u0645\u062a\u0648\u0627\u0631\u062b<\/td>\n<td width=\"123\"><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Adrenoleukodystrophy X-Linked (ALD)<\/td>\n<td valign=\"top\" width=\"156\">\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0648\u0627\u0644\u063a\u062f\u0629 \u0627\u0644\u0643\u0638\u0631\u064a\u0629 \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u062c\u0646\u0633<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u0631\u062a\u0628\u0637\u0629 \u0628\u0627\u0644\u062c\u0646\u0633<\/td>\n<td width=\"123\"><i>ABCD1<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Aicardi-Goutieres Syndrome<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0627\u064a\u0643\u0627\u0631\u062f\u064a \u062c\u0648\u062a\u064a\u064a\u0631<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0639\u0627\u062f\u062a\u0627\u064b \u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/p>\n<p>\u0648\u0627\u062d\u064a\u0627\u0646\u0627\u064b \u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<td width=\"123\"><i>TREX1<\/i><br \/>\n<i>RNASEH2A<\/i><br \/>\n<i>RNASEH2B<\/i><br \/>\n<i>RNASEH2C<\/i><br \/>\n<i>SAMHD1<\/i><br \/>\n<i>ADAR<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Alexander Disease<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0627\u0644\u0627\u0643\u0633\u0646\u062f\u0631<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<td width=\"123\">&nbsp;<\/p>\n<p><i>GFAP<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Childhood Ataxia with diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease)<\/td>\n<td valign=\"top\" width=\"156\">\u0631\u0646\u062d \u0627\u0644\u0623\u0637\u0641\u0627\u0644 \u0645\u0639 \u0646\u0642\u0635 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u0645\u0646\u062a\u0634\u0631 (\u062a\u0644\u0627\u0634\u064a \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621)<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>EIF2B1<\/i><i><\/i><\/p>\n<p>EIF2B2<\/p>\n<p>EIF2B3<\/p>\n<p>EIF2B4<\/p>\n<p>EIF2B5<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Canavan Disease<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0643\u0627\u0646\u0627\u0641\u0627\u0646<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>ASPA<\/i><i><\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/issd\/\">Free sialic acid storage disorders<\/a> <sup>3<\/sup><\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0645\u0631\u0627\u0636 \u062a\u062e\u0632\u064a\u0646 \u062d\u0645\u0636 \u0627\u0644\u0633\u064a\u0627\u0644\u0643<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>SLC17A5<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Fucosidosis<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0641\u0643\u0648\u0633\u064a\u062f\u0648\u0633\u0633<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>FUCA1<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Globoid Cell Leukodystrophy (Krabbe Disease)<\/td>\n<td valign=\"top\" width=\"156\">\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u0643\u0631\u0648\u064a \u0627\u0644\u062e\u0644\u0648\u064a (\u0645\u0631\u0636 \u0643\u0631\u0627\u0628\u064a)<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>GALC<\/i><br \/>\nSee footnote 4<\/td>\n<\/tr>\n<tr>\n<td width=\"249\">L-2-hydroxyglutaric aciduria<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0631\u062a\u0641\u0627\u0639 \u062d\u0645\u0636 \u0627\u0644\u0647\u064a\u062f\u0631\u0648\u0643\u0633\u064a \u062c\u0644\u0648\u062a\u0627\u0631\u064a\u0643<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">&nbsp;<\/p>\n<p>\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>L2HGDH<\/i><i> <\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Metachromatic Leukodystrophy (MLD)<\/td>\n<td valign=\"top\" width=\"156\">\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0645\u062a\u0628\u062f\u0644 \u0627\u0644\u0644\u0648\u0646 (MLD)<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>ARSA<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Oculodentodigital Dysplasia with cerebral white matter abnormalities<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0644\u062e\u0644\u0644 \u0627\u0644\u0646\u0633\u064a\u062c\u064a \u0644\u0644\u0639\u064a\u0646 \u0648\u0627\u0644\u0623\u0633\u0646\u0627\u0646 \u0627\u0644\u0623\u0635\u0627\u0628\u0639 \u0627\u0644\u0645\u0635\u0627\u062d\u0628 \u0644\u062e\u0644\u0644 \u0641\u064a \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u063a\u0627\u0644\u0628\u0627\u064b<\/p>\n<p>\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629 \u0648\u0627\u062d\u064a\u0627\u0646\u0627\u064b \u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>GJA1<\/i><\/p>\n<p>Peroxisomal acyl-CoA-oxidase deficiency: <i>ACOX1<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Pelizaeus Merzbacher Disease (X-linked spastic paraplegia)<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0628\u0644\u064a\u0632\u0627\u064a\u0648\u0633 \u0645\u064a\u0631\u062a\u0633\u0628\u0627\u062e\u0631 \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u062c\u0646\u0633 (\u0627\u0644\u0634\u0644\u0644 \u0627\u0644\u062a\u0634\u0646\u062c\u064a \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u062c\u0646\u0633)<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u0631\u062a\u0628\u0637\u0629 \u0628\u0627\u0644\u062c\u0646\u0633<\/td>\n<td width=\"123\"><i>PLP1<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Pelizaeus-Merzbacher-like disease 1 (PMLD1)<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0644\u0645\u0631\u0636 \u0627\u0644\u0645\u0634\u0627\u0628\u0647 \u0644\u0645\u0631\u0636 \u0628\u0644\u064a\u0632\u0627\u064a\u0648\u0633 \u0645\u064a\u0631\u062a\u0633\u0628\u0627\u062e\u0631<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>GJC2<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/pol3-leuk\/\">Pol III-related leukodystrophies<\/a><\/p>\n<ul>\n<li><b>4H syndrome.<\/b> Hypomyelination, hypodontia, hypogonadotropic hypogonadism<\/li>\n<li><b>ADDH.<\/b> Ataxia, delayed dentition, and hypomyelination<\/li>\n<li><b>TACH.<\/b> Tremor-ataxia with central hypomyelination<\/li>\n<li><b>LO.<\/b> Leukodystrophy with oligodontia<\/li>\n<li><b>HCAHC.<\/b> Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum<\/li>\n<\/ul>\n<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u062a\u064a \u062a\u062a\u0639\u0644\u0642 \u0628\u0628\u0648\u0644 \u062b\u0644\u0627\u062b\u0629<\/p>\n<p>\u0646\u0642\u0635 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0645\u0639 \u0642\u0635\u0648\u0631 \u0627\u0644\u063a\u062f\u062f \u0627\u0644\u062a\u0646\u0627\u0633\u0644\u064a\u0629 \u0648 \u0646\u0642\u0635 \u0627\u0644\u0627\u0633\u0646\u0627\u0646 ( \u0645\u062a\u0644\u0627\u0632\u0645\u0629 4 \u0627\u062a\u0634)<\/p>\n<p>\u0645\u0631\u0636 \u0627\u0644\u062a\u0631\u0646\u062d \u0648 \u062a\u0627\u062e\u0631 \u0638\u0647\u0648\u0631 \u0627\u0644\u0627\u0633\u0646\u0627\u0646 \u0648 \u0646\u0642\u0635 \u0644\u0645\u0627\u064a\u0644\u064a\u0646 \u0628\u0627\u0644\u0645\u062e<\/p>\n<p>\u0645\u0631\u0636 \u0627\u0644\u0627\u0631\u062a\u0639\u0627\u0634 \u0648 \u0627\u0644\u062a\u0631\u0646\u062d \u0648 \u0646\u0642\u0635 \u0627\u0644\u0645\u0627\u064a\u0644\u064a\u0646 \u0628\u0627\u0644\u0645\u062e<\/p>\n<p>\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0644\u0645\u0627\u064a\u0644\u064a\u0646 \u0628\u0627\u0644\u0645\u062e \u0648 \u0636\u0645\u0648\u0631 \u0627\u0644\u0645\u062e\u064a\u062e \u0648 \u0636\u0645\u0648\u0631 \u0627\u0644\u0643\u0631\u0628\u0648\u0633 \u0643\u0644\u0648\u0632\u0645<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>POLR3A<\/i><br \/>\n<i>POLR3B<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Refsum Disease<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0631\u064a\u0641\u0633\u0645<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\"><\/td>\n<td width=\"123\"><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">RNAse T2-deficient leukoencephalopathy<\/td>\n<td valign=\"top\" width=\"156\"><\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>RNASET2<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Single-enzyme deficiencies of peroxisomal fatty acid beta oxidation<\/td>\n<td valign=\"top\" width=\"156\"><\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">Dibifunctional protein deficiency: <i>HSD17B4<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Sjogren-Larssen Syndrome<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0634\u064a\u063a\u0631\u0646 \u0644\u0627\u0631\u0633\u0646<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>ALDH3A2<\/i><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Zellweger Spectrum: Zellweger Syndrome<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0632\u064a\u0644\u0648\u064a\u062c\u0631 \u0648\u0637\u064a\u0641 \u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0632\u064a\u0644\u0648\u064a\u062c\u0631<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\"><i>PEX<\/i> genes<i><\/i><\/p>\n<p>&nbsp;<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>\u0645\u062c\u0645\u0648\u0639\u0629 \u0645\u0646 \u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u0623\u0642\u0644 \u0634\u064a\u0648\u0639\u0627 \u0648\u0634\u0647\u0631\u0647:<\/p>\n<p>&nbsp;<\/p>\n<table border=\"1\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td valign=\"top\" width=\"249\"><b>\u0627\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u0644\u0625\u0646\u062c\u0644\u064a\u0632\u064a\u0629<\/b><b><\/b><\/td>\n<td valign=\"top\" width=\"156\"><b>\u0627\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u0644\u0639\u0631\u0628\u064a<\/b><\/td>\n<td width=\"155\"><b>\u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0627\u0644\u0631\u0626\u064a\u0633\u064a\u0629<\/b><\/td>\n<td width=\"117\"><b>\u0646\u0645\u0637 \u0627\u0644\u0648\u0631\u0627\u062b\u0629<\/b><\/td>\n<td width=\"123\"><b>\u0627\u0633\u0645 \u0627\u0644\u062c\u064a\u0646<\/b><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Adult-onset Autosomal Dominant Leukodystrophy (ADLD)<\/td>\n<td valign=\"top\" width=\"156\">\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629 \u0644\u0644\u0628\u0627\u0644\u063a\u064a\u0646<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<td width=\"123\">LMNB1<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Adult polyglucosan body disease (APBD)<\/td>\n<td valign=\"top\" width=\"156\"><\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0627\u0644\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">GBE1<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Autosomal Dominant Diffuse Leukoencephalopathy with neuroaxonal spheroids (HDLS)<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0639\u062a\u0644\u0627\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u062f\u0645\u0627\u063a\u064a \u0627\u0644\u0645\u0646\u062a\u0634\u0631 \u0645\u0639 \u062a\u0643\u0648\u064a\u0631 \u0627\u0644\u0645\u062d\u0627\u0648\u0631 \u0627\u0644\u0639\u0635\u0628\u064a\u0629 \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<td width=\"123\">CSF1R<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Cerebroretinal microangiopathy w\/calcifications &amp; cysts (CRMCC). Coats plus<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0643\u0648\u062a\u0633 \u0628\u0644\u0633<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">CTC1<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Cerebrtendinous Xanthomatosis (CTX)<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0627\u0644\u062a\u0648\u0631\u0645\u0627\u062a \u0627\u0644\u0635\u0641\u0631\u0627\u0621 \u0627\u0644\u062f\u0645\u0627\u063a\u064a\u0629 \u0648\u0641\u064a \u0627\u0644\u0623\u0648\u062a\u0627\u0631<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">CYP27A1<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Leukoencephalopathy, cystic, without megalencephaly<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0639\u062a\u0644\u0627\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u062f\u0645\u0627\u063a\u064a \u0627\u0644\u0643\u064a\u0633\u064a \u0628\u0633\u0628\u0628 \u062e\u0644\u0644 \u0641\u064a \u062c\u064a\u0646 RNASET2<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">RNASET2<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/lbsl\/\">Leukoencephalopathy w\/brain stem &amp; spinal cord involvement &amp; lactate elevation<\/a> (LBSL)<\/td>\n<td valign=\"top\" width=\"156\"><\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">DARS2<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Leukoencephalopathy w\/thalamus and brain stem involvement &amp; lactate elevation (LTBL)<\/td>\n<td valign=\"top\" width=\"156\"><\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">EARS2<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Hypomyelination w\/atrophy of the basal ganglia &amp; cerebellum (HABC)<\/td>\n<td valign=\"top\" width=\"156\">\u0646\u0642\u0635 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0645\u0639 \u0636\u0645\u0648\u0631 \u0641\u064a \u0627\u0644\u0639\u0642\u062f \u0627\u0644\u0642\u0627\u0639\u062f\u064a\u0629 \u0648\u0627\u0644\u0645\u062e\u064a\u062e<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<td width=\"123\">TUBB4A<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\"><a href=\"http:\/\/www.ncbi.nlm.nih.gov\/books\/n\/gene\/hypo-mcc\/\">Hypomyelination and congenital cataract<\/a> (HCC)<\/td>\n<td valign=\"top\" width=\"156\">\u0646\u0642\u0635 \u0627\u0644\u0645\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0648 \u0627\u0644\u0645\u0627\u0621 \u0627\u0644\u0623\u0628\u064a\u0636 \u0641\u064a \u0627\u0644\u0639\u064a\u0646<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">FAM126A<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Lipomembranous Osteodysplasia with Leukodystrophy (Nasu Disease)<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0644\u062e\u0644\u0644 \u0627\u0644\u0646\u0633\u064a\u062c\u064a \u0627\u0644\u0639\u0638\u0645\u064a \u0627\u0644\u063a\u0634\u0627\u0626\u064a \u0627\u0644\u062f\u0647\u0646\u064a \u0645\u0639 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 (\u0645\u0631\u0636 \u0646\u0627\u0633\u0648)<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">TYROBP<\/p>\n<p>TREM2<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Megalencephalic Leukodystrophy with subcortical Cysts (MLC)<\/td>\n<td valign=\"top\" width=\"156\">\u062a\u0636\u062e\u0645 \u0627\u0644\u062f\u0645\u0627\u063a \u0645\u0639 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0648 \u0627\u0644\u062a\u0643\u064a\u0633 \u062a\u062d\u062a \u0642\u0634\u0631\u0629 \u0627\u0644\u0645\u062e (MLC)<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">MLC1<br \/>\nHEPACAM (MLC2)<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Multiple sulfatase deficiency (MSD)<\/td>\n<td valign=\"top\" width=\"156\">\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0646\u0632\u064a\u0645\u0627\u062a \u0627\u0644\u0633\u0644\u0641\u064a\u062a\u064a\u0632 \u0627\u0644\u0645\u062a\u0639\u062f\u062f\u0629<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">SUMF1<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Oculodentodigital Dysplasia with cerebral white matter abnormalities<\/td>\n<td valign=\"top\" width=\"156\">\u0627\u0644\u062e\u0644\u0644 \u0627\u0644\u0646\u0633\u064a\u062c\u064a \u0644\u0644\u0639\u064a\u0646 \u0648\u0627\u0644\u0623\u0633\u0646\u0627\u0646 \u0627\u0644\u0623\u0635\u0627\u0628\u0639 \u0627\u0644\u0645\u0635\u0627\u062d\u0628 \u0644\u062e\u0644\u0644 \u0641\u064a \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u063a\u0627\u0644\u0628\u0627\u064b<\/p>\n<p>\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629 \u0648\u0627\u062d\u064a\u0627\u0646\u0627\u064b \u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">GJA1<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">Leukoencephalopathy with dystonia and motor neuropathy<\/td>\n<td valign=\"top\" width=\"156\">\u0644\u064a\u0643\u0648\u0627\u0646\u0633\u064a\u0641\u0627\u0644\u0648\u0628\u062b\u064a \u0645\u0639 \u0627\u0644\u0634\u062f \u0627\u0644\u0639\u0636\u0644\u064a \u0648 \u0636\u0645\u0648\u0631 \u0627\u0644\u0627\u0639\u0635\u0627\u0628 \u0627\u0644\u062d\u0631\u0643\u064a<\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<td width=\"123\">SCP2<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"249\">SOX10-associated disorders<\/td>\n<td valign=\"top\" width=\"156\"><\/td>\n<td width=\"155\"><\/td>\n<td width=\"117\">\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<td width=\"123\">SOX10<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<h2><\/h2>\n<h2>\u0627\u0644\u0627\u0639\u0631\u0627\u0636<\/h2>\n<p>\u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0641\u064a \u0627\u0644\u062f\u0645\u0627\u063a \u0648 \u0627\u0644\u062a\u064a \u062a\u062d\u062a\u0648\u064a \u0627\u0644\u0623\u0644\u064a\u0627\u0641 \u0627\u0644\u0639\u0635\u0628\u064a\u0629 \u0647\u064a \u0627\u0644\u062a\u064a \u062a\u0646\u0642\u0644 \u0627\u0644\u0625\u0634\u0627\u0631\u0627\u062a \u0627\u0644\u0643\u0647\u0631\u0628\u0627\u0626\u064a\u0629 \u0645\u0646 \u0627\u0644\u0645\u062e \u0627\u0644\u0649 \u0627\u0644\u0623\u0637\u0631\u0627\u0641 \u0644\u062a\u062d\u0631\u064a\u0643 \u0627\u0644\u0639\u0636\u0644\u0627\u062a. \u0641\u0644\u0630\u0644\u0643 \u0627\u0639\u0631\u0627\u0636 \u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u062a\u062a\u0639\u0644\u0642 \u0641\u064a \u0627\u0644\u0628\u062f\u0627\u064a\u0629 \u0628\u0627\u0644\u062d\u0631\u0643\u0629 \u0641\u064a\u0643\u0648\u0646 \u0647\u0646\u0627\u0643 \u062a\u0623\u062e\u0631 \u0641\u064a \u0627\u0643\u062a\u0633\u0627\u0628 \u0627\u0644\u0645\u0647\u0627\u0631\u0627\u062a \u0627\u0644\u062d\u0631\u0643\u064a\u0629 \u0628\u0643\u0644 \u0623\u0646\u0648\u0627\u0639\u0647\u0627. \u0643\u0630\u0644\u0643 \u064a\u0643\u0648\u0646 \u0647\u0646\u0627\u0643 \u0627\u0631\u062a\u062e\u0627\u0621 \u0641\u064a \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u064a\u062a\u062d\u0633\u0646 \u062a\u062f\u0631\u064a\u062c\u064a\u0627 \u0645\u0639 \u0627\u0644\u0648\u0642\u062a \u0648 \u0644\u0643\u0646\u0647 \u064a\u062a\u062d\u0648\u0644 \u0627\u0644\u0649 \u0634\u062f \u0648 \u062a\u064a\u0628\u0633 \u0641\u064a \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0641\u062a\u0635\u0628\u062d \u0635\u0644\u0628\u0647 \u0648 \u0642\u0627\u0633\u064a\u0629 \u064a\u0635\u0639\u0628 \u0645\u0639\u0647\u0627 \u062a\u062d\u0631\u064a\u0643 \u0627\u0644\u0637\u0641\u0644 \u0648 \u0641\u0631\u062f \u0627\u0637\u0631\u0627\u0641\u0647 \u0648 \u0642\u062f \u064a\u0628\u062f\u0623 \u062d\u062f\u0648\u062b \u0627\u0646\u062d\u0646\u0627\u0621 \u0648 \u0645\u064a\u0644\u0627\u0646 \u0641\u064a \u0627\u0644\u0639\u0645\u0648\u062f \u0627\u0644\u0641\u0642\u0631\u064a ( \u0627\u0644\u062c\u0646\u0641). \u0648 \u0639\u0646\u062f\u0645\u0627 \u062a\u0644\u0627\u062d\u0638 \u0627\u0644\u0637\u0641\u0644 \u062a\u062c\u062f \u0647\u0646\u0627\u0643 \u0646\u0648\u0639 \u0645\u0646 \u0627\u0644\u0634\u0644\u0644 \u0641\u064a \u0627\u0644\u0623\u0637\u0631\u0627\u0641 \u0648 \u0643\u0623\u0646\u0647 \u0634\u0644\u0644 \u0631\u0628\u0627\u0639\u064a \u0627\u0648 \u0634\u0644\u0644 \u0646\u0635\u0641\u064a \u0641\u064a \u0627\u0644\u0623\u0637\u0631\u0627\u0641 \u0627\u0644\u0633\u0641\u0644\u0649. \u0648 \u0644\u0627\u0646 \u0627\u0644\u0645\u0636\u063a \u0648 \u0627\u0644\u0628\u0644\u0639 \u0648 \u0627\u0644\u062a\u0646\u0641\u0633\u064a \u064a\u062d\u062a\u0627\u062c \u0627\u0644\u0649 \u0639\u0636\u0644\u0627\u062a \u0637\u0628\u064a\u0639\u064a\u0629 \u0641\u0644\u0630\u0644\u0643 \u062a\u0644\u0627\u062d\u0638 \u0627\u0646 \u0627\u0644\u0643\u062b\u064a\u0631 \u0645\u0646 \u0627\u0644\u0645\u0635\u0627\u0628\u064a\u0646 \u0644\u062f\u064a\u0647\u0645 \u0635\u0639\u0648\u0628\u0627\u062a \u0641\u064a \u0627\u0644\u062a\u063a\u0630\u064a\u0629 \u0648 \u0641\u064a \u0627\u0644\u062a\u0646\u0641\u0633 \u0648 \u062a\u0643\u062b\u0631 \u0644\u062f\u064a\u0647\u0645 \u0627\u0644\u0627\u0644\u062a\u0647\u0627\u0628\u0627\u062a \u0627\u0644\u0631\u0626\u0648\u064a\u0629 \u0645\u0639 \u0635\u0639\u0648\u0628\u0627\u062a \u0641\u064a \u0627\u0644\u062a\u0646\u0641\u0633 \u0646\u062a\u064a\u062c\u0629 \u0645\u0634\u0627\u0643\u0644 \u0641\u064a \u0627\u0644\u0628\u0644\u0639 \u0648 \u062f\u062e\u0648\u0644 \u0627\u0644\u0637\u0639\u0627\u0645 \u0627\u0644\u0645\u062a\u0643\u0631\u0631 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\u0627\u0644\u0628\u0627\u0644\u063a\u064a\u0646 \u0644\u0630\u0644\u0643 \u0644\u0627 \u064a\u0639\u0646\u064a \u0627\u0646 \u0627\u0644\u0634\u062e\u0635 \u0643\u0627\u0646 \u0633\u0644\u064a\u0645\u0627 \u0641\u064a \u0627\u0644\u0633\u0627\u0628\u0642 \u0627\u0646 \u0627\u0644\u0645\u0631\u0636 \u0644\u064a\u0633 \u0645\u0646 \u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0648 \u0627\u0646\u0647 \u063a\u064a\u0631 \u0648\u0631\u0627\u062b\u064a. \u0648 \u0642\u062f \u064a\u0643\u0648\u0646 \u0627\u0644\u0641\u064a\u0635\u0644 \u0641\u064a \u0630\u0644\u0643 \u0647\u0648 \u0639\u0645\u0644 \u0641\u062d\u0648\u0635\u0627\u062a \u0648\u0631\u0627\u062b\u064a\u0629 \u0627\u0630\u0627 \u0644\u0632\u0645 \u0627\u0644\u0623\u0645\u0631.<\/p>\n<p>\u062c\u062f\u0648\u0644 \u0628\u0627\u0644\u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0645\u0634\u0627\u0628\u0647\u0647 \u0644\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621<\/p>\n<table border=\"1\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td valign=\"top\" width=\"390\">\u0623\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u0644\u0625\u0646\u062c\u0644\u064a\u0632\u064a<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0633\u0645 \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u0644\u0639\u0631\u0628\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">3-hydroxy-3-methylglutaryl-CoA lyase deficiency<\/td>\n<td valign=\"top\" width=\"390\"><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Adenylosuccinase deficiency ACAN-related disorders<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0644\u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0645\u062a\u0639\u0644\u0642\u0629 \u0628\u0627\u0644\u0627\u064a\u0643\u0627\u0646<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">AIMP1-related disorders<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0644\u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0645\u062a\u0639\u0644\u0642\u0629 \u0628\u0627\u0644\u0627\u064a\u0645\u06281<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Aspartylglucosaminuria<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0631\u062a\u0641\u0627\u0639 \u0627\u0644\u0627\u0633\u0628\u0631\u062a\u0627\u062c\u0644\u064a\u0643\u0648\u0632\u0645\u064a\u0646 \u0641\u064a \u0627\u0644\u0628\u0648\u0644<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0639\u062a\u0644\u0627\u0644 \u0627\u0644\u0634\u0631\u0627\u064a\u064a\u0646 \u0627\u0644\u062f\u0645\u0627\u063a\u064a\u0629 \u0645\u0639 \u0627\u0644\u062c\u0644\u0637\u0627\u062a \u062a\u062d\u062a \u0642\u0634\u0631\u0629 \u0627\u0644\u0645\u062e \u0648 \u0627\u0639\u062a\u0644\u0627\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0633\u0627\u0626\u062f\u0629<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0639\u062a\u0644\u0627\u0644 \u0627\u0644\u0634\u0631\u0627\u064a\u064a\u0646 \u0627\u0644\u062f\u0645\u0627\u063a\u064a\u0629 \u0645\u0639 \u0627\u0644\u062c\u0644\u0637\u0627\u062a \u062a\u062d\u062a \u0642\u0634\u0631\u0629 \u0627\u0644\u0645\u062e \u0648 \u0627\u0639\u062a\u0644\u0627\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u0645\u062a\u0646\u062d\u064a\u0629<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Cockayne syndrome and trichothiodystrophy COL4A1-related disorders<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0643\u0648\u0643\u064a\u0646<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Congenital muscular dystrophy<\/td>\n<td valign=\"top\" width=\"390\">\u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u062e\u0644\u0642\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Defects of N-glycan synthesis including congenital disorders of glycosylation<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0636\u0637\u0631\u0627\u0628\u0627\u062a \u0627\u0644\u062c\u0644\u064a\u0643\u0648\u0632\u064a\u0644\u064a\u0634\u0646 \u0627\u0644\u062e\u0644\u0642\u064a\u0629<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Dentatorubropallidoluysian atrophy (DRPLA)<\/td>\n<td valign=\"top\" width=\"390\"><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Disorders of aminioacidopathy and organic acidemia<\/td>\n<td valign=\"top\" width=\"390\">\u0623\u0645\u0631\u0627\u0636 \u0627\u0631\u062a\u0641\u0627\u0639 \u0627\u0644\u0627\u062d\u0645\u0627\u0636 \u0627\u0644\u0639\u0636\u0648\u064a\u0629 \u0648 \u0627\u0636\u0637\u0631\u0627\u0628\u0627\u062a \u0627\u0644\u0623\u062d\u0645\u0627\u0636 \u0627\u0644\u0627\u0645\u064a\u0646\u064a\u0629<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Disorders of glycoprotein degradation (including alpha-mannosidosis, beta mannosidosis and sialidosis; excluding fucosidosis)<\/td>\n<td valign=\"top\" width=\"390\">\u0623\u0645\u0631\u0627\u0636 \u062a\u062d\u0644\u0644 \u0627\u0644\u062c\u0644\u064a\u0643\u0648\u0628\u0631\u0648\u062a\u064a\u0646\u0627\u062a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Fabry disease<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0641\u0627\u0628\u0631\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Familial hemophagocytic lymphohistiocytosis<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0643\u0644\u062a \u0627\u0644\u062e\u0644\u0627\u064a\u0627 \u0627\u0644\u0648\u0631\u0627\u062b\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Fatty acid hydroxylase-associated neurodegeneration (FA2H-related disorders)<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0644\u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0645\u062a\u0639\u0644\u0642\u0629 \u0628\u0647\u064a\u062f\u0631\u0648\u0643\u0633\u064a\u0644\u064a\u0632 \u0627\u0644\u0623\u062d\u0645\u0627\u0636 \u0627\u0644\u062f\u0647\u0646\u064a\u0629<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Fragile X-associated tremor\/ataxia syndrome (FXTAS)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0643\u0631\u0648\u0645\u0648\u0633\u0648\u0645 \u0623\u0643\u0633 \u0644\u0647\u0634<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Fumarate hydratase deficiency<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0646\u0632\u064a\u0645 \u0641\u064a\u0648\u0645\u064a\u0631\u064a\u062a \u0647\u064a\u062f\u0631\u064a\u062a\u064a\u0632<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Galactosemia type I<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0644\u062c\u0644\u0627\u0643\u062a\u0648\u0633\u064a\u0645\u064a\u0627 \u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0623\u0648\u0644<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Giant axonal neuropathy<\/td>\n<td valign=\"top\" width=\"390\"><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Glutaric aciduria type I (GA-I) Glutaric aciduria type II (GA-II; multiple acyl-CoA dehydrogenase deficiency; MADD)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0631\u062a\u0641\u0627\u0639 \u062d\u0645\u0636 \u0627\u0644\u062c\u0644\u064a\u062a\u0648\u0631\u064a\u0643 \u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0623\u0648\u0644 \u0648 \u0627\u0644\u062b\u0627\u0646\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">\u0627Glycine encephalopathy<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0631\u062a\u0641\u0627\u0639 \u0645\u0627\u062f\u0629 \u0627\u0644\u062c\u0644\u064a\u0633\u064a\u0646<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">GM1 gangliosidosis, infantile onset<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062c\u064a \u0623\u0645 1 \u063a\u0627\u0646\u063a\u0644\u064a\u0648\u0632\u064a\u062f\u0648\u0633\u0633<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">GM2 gangliosidosis<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062c\u064a \u0623\u0645 2 \u063a\u0627\u0646\u063a\u0644\u064a\u0648<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">infantile onset GPR56-related disorders<\/td>\n<td valign=\"top\" width=\"390\"><\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Hereditary homocystinurias HSPD1-related disorders<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0644\u0647\u0648\u0645\u0648\u0633\u064a\u0633\u062a\u064a\u0646 \u064a\u0648\u0631\u064a\u0627<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0627\u062a\u0634 \u0627\u062a\u0634 \u0627\u062a\u0634<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Hypomelanosis of Ito (HMI; incontinentia pigmenti achromians)<\/td>\n<td valign=\"top\" width=\"390\">\u0646\u0642\u0635 \u0627\u0644\u062a\u0644\u0648\u0646 \u0627\u064a\u062a\u0648<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Incontinentia pigmenti JAM3-related disorders<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0644\u0633\u0644\u0633 \u0627\u0644\u0635\u0628\u0627\u063a\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">L-2-hydroxyglutaric aciduria<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0631\u062a\u0641\u0627\u0639 \u062d\u0645\u0636 \u0627\u0644\u0647\u064a\u062f\u0631\u0648\u0643\u0633\u064a \u062c\u0644\u0648\u062a\u0631\u0643<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Lowe syndrome<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0644\u0648\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">MCT8-specific disorders<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062e\u0644\u0644 \u062c\u064a\u0646 \u0627\u0645 \u0633\u064a \u062a\u064a 8<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Menkes disease<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0645\u064a\u0646\u0643\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Mitochondrial neurogastrointestinal encephalopathy (MNGIE)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0645\u0646\u062c\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0645\u064a\u0644\u0627\u0633<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0646\u0632\u064a\u0645 \u0645\u0639\u0627\u0645 \u0627\u0644\u0645\u0644\u064a\u0628\u062f\u0645<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Mucolipidosis IV Mucopolysaccharidosis including MPS type II (Hunter syndrome)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062a\u0631\u0627\u0643\u0645 \u0627\u0644\u062f\u0647\u0648\u0646 \u0627\u0644\u0645\u062e\u0627\u0637\u064a\u0629( \u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0631\u0627\u0628\u0639) \u0648 \u0627\u0644\u0633\u0643\u0631\u064a\u0627\u062a \u0627\u0644\u0645\u062e\u0627\u0637\u064a\u0629 ( \u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u062b\u0627\u0646\u064a)<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Multiple carboxylase deficiency, including biotinidase deficiency and holocarboxylase synthase deficiency<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0646\u0632\u064a\u0645\u0627\u062a \u0627\u0644\u0643\u0631\u0628\u0648\u0643\u0633\u064a\u0644\u064a\u0632 \u0627\u0644\u0645\u062a\u0639\u062f\u062f<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Myotonic dystrophy type I<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u064a\u0648\u062a\u0648\u0646\u064a\u0627 \u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0623\u0648\u0644<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Neuronal ceroid-lipofuscinoses (NCL)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0633\u064a\u0631\u0648\u062f \u0644\u064a\u0628\u0648\u0641\u064a\u0648\u0646\u0648\u0633\u0632 \u0627\u0644\u0639\u0635\u0628\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">infantile onset Neuronopathic form of malignant infantile osteopetrosis<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062a\u0635\u062e\u0631 \u0627\u0644\u0639\u0638\u0627\u0645 \u0644\u0644\u0631\u0636\u0639 \u0627\u0644\u0639\u0635\u0628\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Niemann-Pick disease type C<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0646\u064a\u0645\u0627\u0646 \u0628\u064a\u0643 \u0627\u0644\u0646\u0648\u0639 \u0633\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Phenylketonuria (PKU)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0644\u0641\u064a\u0646\u0627\u064a\u0644 \u0643\u064a\u062a\u0648\u0646 \u064a\u0648\u0631\u064a\u0627<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">POLG-related disorders<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0644\u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0645\u0645\u062a\u0639\u0644\u0642\u0629 \u0628\u062c\u064a\u0646 \u0627\u0644\u0628\u0648\u0644\u062c<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Pyruvate carboxylase (PC) deficiency<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0646\u0632\u064a\u0645 \u0627\u0644\u0628\u064a\u0631\u0648\u0641\u064a\u062a \u0643\u0631\u0628\u0648\u0643\u0633\u064a\u0644\u064a\u0632<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Pyruvate dehydrogenase (PDH) deficiency<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0646\u0632\u064a\u0645 \u0627\u0644\u0628\u064a\u0631\u0648\u0641\u064a\u062a \u062f\u064a\u0647\u064a\u062f\u0631\u0648\u062c\u064a\u0646\u064a\u0632<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Serine synthesis defects SPG 11 and SPG 15<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062a\u064a\u0628\u0633 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0633\u0641\u0644\u064a\u0629 \u0627\u0644\u0646\u0648\u0639 11 \u0648 15<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Spondyloenchondrodysplasia<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u062e\u0644\u0644 \u0627\u0644\u0646\u0633\u064a\u062c \u0627\u0644\u0641\u0642\u0631\u064a \u0627\u0644\u063a\u0636\u0631\u0648\u0641\u064a<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Succinic semialdehyde dehydrogenase (SSADH) deficiency (4-hydroxybutyric aciduria)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0646\u0632\u064a\u0645 \u0627\u0644\u0633\u0643\u0633\u064a\u0646\u0643 \u0633\u0645\u064a\u0627\u0644\u062f\u064a\u0647\u064a\u062f<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Urea cycle disorders:<\/td>\n<td valign=\"top\" width=\"390\">\u0623\u0645\u0631\u0627\u0636 \u062d\u0644\u0642\u0629 \u0627\u0644\u064a\u0648\u0631\u064a\u0627<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Wilson disease<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0648\u064a\u0644\u0633\u0648\u0646<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">Woodhouse-Sakati syndrome (WSS)<\/td>\n<td valign=\"top\" width=\"390\">\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0648\u0648\u062f\u0647\u0627\u0648\u0633 \u0648 \u0633\u0642\u0637\u064a<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<h2><\/h2>\n<h2>\u0627\u0644\u062a\u0634\u062e\u064a\u0635<\/h2>\n<p>\u0627\u0646 \u062a\u0634\u062e\u064a\u0635 \u0648\u062c\u0648\u062f \u062d\u062b\u0644 \u0641\u064a \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u064a\u0639\u062a\u0645\u062f \u0639\u0644\u0649 \u0627\u0644\u0623\u0634\u0639\u0629 \u0627\u0644\u0645\u063a\u0646\u0627\u0637\u064a\u0633\u064a\u0629 ( \u0627\u0634\u0639\u0629 \u0627\u0644\u0631\u0646\u064a\u0646 \u0627\u0644\u0645\u063a\u0646\u0627\u0637\u064a\u0633\u064a) \u0641\u0628\u062f\u0648\u0646 \u0647\u0630\u0647 \u0627\u0644\u0627\u0634\u0639\u0629 \u064a\u0635\u0639\u0628 \u0627\u0643\u062a\u0634\u0627\u0641 \u0627\u0644\u062e\u0644\u0644 \u0641\u064a \u0645\u0627\u062f\u0629 \u0627\u0644\u0645\u064a\u0644\u064a\u0646 \u0641\u064a \u062a\u0644\u0643 \u0627\u0644\u0637\u0628\u0642\u0629. \u0648 \u064a\u062a\u0645 \u062a\u0635\u0646\u064a\u0641 \u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u062d\u0633\u0628 \u0623\u062c\u0632\u0627\u0621 \u0627\u0644\u0645\u062e \u0627\u0644\u0645\u062a\u0623\u062b\u0631\u0629 \u0641\u0628\u0639\u0636 \u0627\u0644\u0627\u0645\u0631\u0627\u0636 \u062a\u0624\u062b\u0631 \u0639\u0644\u0649 \u0627\u0644\u062c\u0632\u0621 \u0627\u0644\u0623\u0645\u0627\u0645 \u0644\u0644\u0645\u062e \u0627\u0643\u062b\u0631 \u0645\u0646 \u0627\u0644\u062c\u0632\u0621 \u0627\u0644\u062e\u0644\u0641 \u0627\u0648 \u062a\u0624\u062b\u0631 \u0639\u0644\u0649 \u0627\u0644\u0645\u062e\u064a\u062e \u0648 \u0639\u0644\u0649 \u0642\u0627\u0639\u062f\u0629 \u0627\u0644\u0645\u062e \u0645\u0639 \u0648\u062c\u0648\u062f \u062a\u062c\u0627\u0648\u064a\u0641 \u0627\u0648 \u0639\u0644\u0627\u0645\u0627\u062a \u0645\u0639\u064a\u0646\u0629 \u0642\u062f \u062a\u0633\u0627\u0639\u062f \u0641\u064a \u062a\u062d\u062f\u064a\u062f \u0627\u0644\u0645\u0631\u0636 \u0627\u0644\u0645\u0634\u062a\u0628\u0647 \u0628\u0647 .\u0627\u0636\u0627\u0641\u0629 \u0627\u0644\u0649 \u0627\u0644\u0627\u0639\u0631\u0627\u0636 \u0627\u0644\u0638\u0627\u0647\u0631\u0629 \u0639\u0644\u0649 \u0627\u0644\u0645\u0631\u064a\u0636 \u0645\u062b\u0644 \u0627\u0639\u0631\u0627\u0636 \u0627\u0644\u0639\u064a\u0648\u0646 \u0648 \u0627\u0644\u0627\u0633\u0646\u0627\u0646 \u0648 \u0627\u0644\u0623\u0637\u0631\u0627\u0641 \u0648 \u063a\u064a\u0631\u0647\u0627.<\/p>\n<p>\u0644\u0643\u064a \u064a\u0645\u0643\u0646 \u062a\u062d\u062f\u064a\u062f \u0627\u0644\u0633\u0628\u0628 \u064a\u062a\u0645 \u0627\u062c\u0631\u0627\u0621 \u0641\u062d\u0648\u0635\u0627\u062a \u0645\u062a\u0639\u062f\u062f\u0629 \u0645\u062b\u0644 \u062a\u062d\u0644\u064a\u0644 \u0627\u0644\u0647\u0631\u0645\u0648\u0646\u0627\u062a \u0644\u0644\u063a\u062f\u0629 \u0627\u0644\u062f\u0631\u0642\u064a\u0629 \u0648 \u0627\u0644\u0643\u0638\u0631\u064a\u0629 \u0648 \u062a\u062d\u0644\u064a\u0644 \u0628\u0639\u0636 \u0627\u0644\u0645\u0648\u0627\u062f \u0627\u0644\u0627\u0633\u062a\u0642\u0644\u0627\u0628\u064a\u0629 \u0641\u064a \u0627\u0644\u062f\u0645 \u0648 \u0627\u0644\u0628\u0648\u0644 \u0648 \u0642\u064a\u0627\u0633 \u0628\u0639\u0636 \u0627\u0644\u0627\u0646\u0632\u064a\u0645\u0627\u062a \u0641\u064a \u0627\u0644\u062f\u0645 \u0627\u0648 \u0627\u0644\u062c\u0644\u062f \u0648 \u0642\u062f \u064a\u0633\u0627\u0639\u062f \u0639\u0645\u0644 \u0641\u062d\u0635 \u0644\u0644\u062c\u064a\u0646\u0627\u062a \u0628\u0634\u0643\u0644 \u0645\u0628\u0627\u0634\u0631\u0629. \u0648 \u062d\u062f\u064a\u062b\u0627 \u0638\u0647\u0631\u062a \u0641\u062d\u0648\u0635\u0627\u062a \u062a\u0641\u062d\u0635 \u0639\u062f\u0629 \u062c\u064a\u0646\u0627\u062a \u0644\u0623\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u062f\u0641\u0639\u0629 \u0648\u0627\u062d\u062f\u0629 \u0648 \u0623\u062e\u0631\u0649 \u0628\u0625\u0645\u0643\u0627\u0646\u0647\u0627 \u0641\u062d\u0635 \u062c\u0645\u064a\u0639 \u0627\u0644\u062c\u064a\u0646\u0627\u062a \u0628\u0645\u0627 \u064a\u0639\u0631\u0641 \u0628\u062a\u0633\u0644\u0633\u0644 \u0627\u0644\u0627\u0643\u0633\u0648\u0646\u0627\u062a.<\/p>\n<p>\u062d\u0627\u0644\u064a\u0627 \u0647\u0646\u0627\u0643 50% \u0645\u0646 \u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0644\u0627 \u064a\u0639\u0631\u0641 \u0644\u0647\u0627 \u062c\u064a\u0646 \u0645\u0633\u0628\u0628 \u0648 \u0644\u0645 \u064a\u062d\u062f\u062f \u0627\u0644\u062e\u0644\u0644 \u0627\u0644\u0648\u0631\u0627\u062b\u064a \u0627\u0644\u0645\u0633\u0628\u0628 \u0644\u0647\u0627. \u0648 \u0647\u0630\u0627 \u064a\u062c\u0639\u0644 \u0627\u0644\u0627\u0645\u0631 \u0635\u0639\u0628\u0627 \u0628\u062e\u0635\u0648\u0635 \u0627\u0644\u0627\u0633\u062a\u0634\u0627\u0631\u0627\u062a \u0627\u0644\u0648\u0631\u0627\u062b\u064a\u0629 \u0648 \u0643\u064a\u0641\u064a\u0629 \u0627\u0644\u0648\u0642\u0627\u064a\u0629 \u0645\u0646 \u0627\u0644\u0645\u0631\u0636 . \u0648 \u0644\u0643\u0646 \u0646\u0646\u0635\u062d \u0628\u0627\u0644\u0645\u062a\u0627\u0628\u0639\u0629 \u0645\u0639 \u0627\u0644\u0623\u0637\u0628\u0627\u0621 \u0641\u0642\u0637 \u062a\u0638\u0647\u0631 \u0628\u0639\u0636 \u0627\u0644\u0628\u062d\u0648\u062b \u0646\u062a\u0627\u0626\u062c \u0641\u064a \u0627\u0644\u0645\u0633\u062a\u0642\u0628\u0644 \u0641\u0639\u0644\u0645 \u0627\u0644\u0648\u0631\u0627\u062b\u0629 \u0627\u0644\u062a\u0634\u062e\u064a\u0635\u064a \u0639\u0644\u0649 \u0645\u0633\u062a\u0648\u0649 \u0641\u062d\u0648\u0635\u0627\u062a \u0627\u0644\u062c\u064a\u0646\u0627\u062a \u0641\u064a \u062a\u0637\u0648\u0631 \u0645\u0633\u062a\u0645\u0631.<\/p>\n<p>&nbsp;<\/p>\n<table border=\"1\" cellspacing=\"0\" cellpadding=\"0\">\n<tbody>\n<tr>\n<td valign=\"top\" width=\"390\"><b>\u0627\u0645\u0631\u0627\u0636 \u064a\u0635\u0627\u062d\u0628\u0647\u0627 \u0643\u0628\u0631 \u0641\u064a \u062d\u062c\u0645 \u0627\u0644\u062c\u0645\u062c\u0645\u0629<\/b><\/td>\n<td valign=\"top\" width=\"390\">\u0645\u0631\u0636 \u0627\u0644\u0643\u0633\u0646\u062f\u0631 \u0648<\/p>\n<p>\u0645\u0631\u0636 \u0643\u0646\u0641\u0627\u0646<\/p>\n<p>\u0645\u0631\u0636 \u0627\u0631\u062a\u0641\u0627\u0639 \u062d\u0645\u0636 \u0627\u0644\u062c\u0644\u064a\u062a\u0627\u0631\u064a\u0643<\/p>\n<p>\u062a\u0636\u062e\u0645 \u0627\u0644\u062f\u0645\u0627\u063a \u0645\u0639 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0648 \u0627\u0644\u062a\u0643\u064a\u0633 \u062a\u062d\u062a \u0642\u0634\u0631\u0629 \u0627\u0644\u0645\u062e<\/p>\n<p>\u0647\u0646\u0627\u0643 \u0627\u0645\u0631\u0627\u0636 \u0627\u062e\u0631\u0649 \u0648\u0631\u0627\u062b\u064a\u0629 \u0648 \u062a\u0633\u0628\u0628 \u0643\u0628\u0631 \u0641\u064a \u062d\u062c\u0645 \u0627\u0644\u062c\u0645\u062c\u0629 \u0644\u0643\u0646\u0647\u0627 \u0644\u0627 \u062a\u0633\u0628\u0628 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0648 \u0645\u0646\u0647\u0627:<\/p>\n<p>Hexosaminidase A<\/p>\n<p>deficiency \u0648 Infantile lysosomal storage disorders \u0648 Neurocutaneous syndromes \u0645\u062b\u0644 PHTS \u0648\u0645\u0631\u0636 Hypomelanosis of Ito<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\"><b>\u0645\u0634\u0627\u0643\u0644 \u0628\u0627\u0644\u062c\u0644\u062f<\/b><\/td>\n<td valign=\"top\" width=\"390\">\u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 \u0648\u0627\u0644\u063a\u062f\u0629 \u0627\u0644\u0643\u0638\u0631\u064a\u0629 \u0627\u0644\u0645\u0631\u062a\u0628\u0637 \u0628\u0627\u0644\u062c\u0646\u0633 (\u0627\u0633\u0645\u0631\u0627\u0631 \u0627\u0644\u062c\u0644\u062f)<\/p>\n<p>\u0645\u062a\u0644\u0627\u0632\u0645\u0629 \u0634\u0627\u062c\u0631\u0646 \u0644\u0627\u0631\u0633\u0646<\/p>\n<p>(\u0627\u0644\u062c\u0644\u062f \u0642\u0634\u0631\u0629 \u0627\u0644\u0633\u0645\u0643\u0629)<\/p>\n<p>\u0645\u0631\u0636 \u0627\u0644\u062a\u0648\u0631\u0645\u0627\u062a \u0627\u0644\u0635\u0641\u0631\u0627\u0621 \u0627\u0644\u062f\u0645\u0627\u063a\u064a\u0629 \u0648\u0641\u064a \u0627\u0644\u0623\u0648\u062a\u0627\u0631<br \/>\n(\u062a\u0648\u0631\u0645\u0627\u062a \u062f\u0647\u0646\u064a\u0629 \u062d\u0648\u0644 \u0627\u0644\u0627\u0648\u062a\u0627\u0631 \u0648 \u0641\u064a \u0627\u0644\u062c\u0644\u062f)<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">\u0645\u0634\u0627\u0643\u0644 \u0641\u064a \u0627\u0644\u0639\u064a\u0648\u0646:<\/td>\n<td valign=\"top\" width=\"390\">\u0628\u0642\u0639 \u0627\u0644\u0643\u0631\u0632 \u0627\u0644\u0623\u062d\u0645\u0631 \u0641\u064a \u0627\u0644\u0634\u0628\u0643\u064a\u0629<\/p>\n<p>\u0645\u0631\u0636 \u062c\u064a \u0627\u0645 \u0648\u0627\u062d\u062f \u0648 \u062c\u064a \u0627\u0645 \u062b\u0646\u064a\u0646<\/p>\n<p>\u0627\u0644\u0645\u0627\u0621 \u0627\u0644\u0623\u0628\u064a\u0636 \u0628\u0627\u0644\u0639\u064a\u0646<\/p>\n<p>\u0645\u0631\u0636 \u0646\u0642\u0635 \u0627\u0644\u0645\u0627\u064a\u0644\u064a\u0646 \u0641\u064a \u0627\u0644\u0645\u062e \u0648 \u0627\u0644\u0645\u0627\u0621 \u0627\u0644\u0627\u0628\u064a\u0636<\/td>\n<\/tr>\n<tr>\n<td valign=\"top\" width=\"390\">\u0645\u0634\u0627\u0643\u0644 \u0628\u0627\u0644\u0623\u0633\u0646\u0627\u0646<\/td>\n<td valign=\"top\" width=\"390\">\u0627\u0645\u0631\u0627\u0636 \u062d\u062b\u0644 \u0627\u0644\u0645\u0627\u062f\u0629 \u0627\u0644\u0628\u064a\u0636\u0627\u0621 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