16,040
回編集
「先天性大脳白質形成不全症」の版間の差分
ナビゲーションに移動
検索に移動
細
→先天性大脳白質形成不全症とは
細編集の要約なし |
細 (→先天性大脳白質形成不全症とは) |
||
| 26行目: | 26行目: | ||
| [[Pelizaeus-Merzbacher-like病1]] || PMLD1 || 1q42.13 || ''[[GJC2]]'' | | [[Pelizaeus-Merzbacher-like病1]] || PMLD1 || 1q42.13 || ''[[GJC2]]'' | ||
|- | |- | ||
| [[ | | [[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]]'' | ||
|- | |- | ||
| [[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]]'' | ||
|- | |- | ||
| [[ | | [[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]]'' | ||
|- | |- | ||
| '''第2群（末梢神経障害あり）''' || || || | | '''第2群（末梢神経障害あり）''' || || || | ||
|- | |- | ||
| [[ | | [[先天性白内障を伴う髄鞘形成不全症]] [[Hypomyelination and congenital cataract]] || HCC || 7p15.3 || ''[[FAM126A]]'' | ||
|- | |- | ||
| [[ | | [[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'' | ||
|- | |- | ||
| [[ | | [[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]]'' | ||
|} | |} | ||