「先天性大脳白質形成不全症」の版間の差分

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編集の要約なし
26行目: 26行目:
| [[Pelizaeus-Merzbacher-like病1]] || PMLD1 || 1q42.13 || ''[[GJC2]]''
| [[Pelizaeus-Merzbacher-like病1]] || PMLD1 || 1q42.13 || ''[[GJC2]]''
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| [[基底核および小脳萎縮を伴う髄鞘形成不全症 Hypomyelination with atrophy of the basal ganglia and cerebellum]] || HABC || 19p13.3 || ''[[TUBB4A]]''
| [[基底核および小脳萎縮を伴う髄鞘形成不全症]] [[Hypomyelination with atrophy of the basal ganglia and cerebellum]] || HABC || 19p13.3 || ''[[TUBB4A]]''
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| [[18q欠失症候群]] || 18qDEL || 18q22→qter || ''[[MBP]]''
| [[18q欠失症候群]] || 18qDEL || 18q22→qter || ''[[MBP]]''
36行目: 36行目:
| [[Salla病]] || SD || 6q13 || ''[[SLC17A5]]''
| [[Salla病]] || SD || 6q13 || ''[[SLC17A5]]''
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| [[小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症 Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum]] || HCAHC || 12q23.3 || ''[[POLR3B]]'' 
| [[小脳萎縮と脳梁低形成を伴うび漫性大脳白質形成不全症]] [[Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum]] || HCAHC || 12q23.3 || ''[[POLR3B]]'' 
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| '''第2群(末梢神経障害あり)'''  ||  ||  ||   
| '''第2群(末梢神経障害あり)'''  ||  ||  ||   
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| [[先天性白内障を伴う髄鞘形成不全症 Hypomyelination and congenital cataract]] || HCC || 7p15.3 || ''[[FAM126A]]''
| [[先天性白内障を伴う髄鞘形成不全症]] [[Hypomyelination and congenital cataract]] || HCC || 7p15.3 || ''[[FAM126A]]''
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| [[失調、歯牙低形成を伴う髄鞘形成不全症 Ataxia, delayed dentition, and hypomyelination]] || ADDH (or 4H) || 10q22.3 || ''POLR3A''
| [[失調、歯牙低形成を伴う髄鞘形成不全症]] [[Ataxia, delayed dentition, and hypomyelination]] || ADDH (or 4H) || 10q22.3 || ''POLR3A''
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| [[脱髄型ニューロパチー、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病 Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease]] || PCWH || 22q13 || ''[[SOX10]]''
| [[脱髄型ニューロパチー、中枢性髄鞘形成不全症、ワーデンバーグ症候群、ヒルシュスプルング病]] [[Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease]] || PCWH || 22q13 || ''[[SOX10]]''
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