无脑回畸形
Lissencephaly
ORPHA:48471疾病组
基本事实
- 发病年龄
- 婴儿期、新生儿期
相关基因 21来自下位疾病
Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。
| 基因 | 名称 | 来源条目 |
|---|---|---|
| ACTB | actin beta | ORPHA:2995 |
| ACTG1 | actin gamma 1 | ORPHA:2995 |
| ARX | aristaless related homeobox | ORPHA:452 |
| CEP85L | centrosomal protein 85L | ORPHA:572013 |
| DAG1 | dystroglycan 1 | ORPHA:370997 |
| DCX | doublecortin | ORPHA:2148 |
| KATNB1 | katanin regulatory subunit B1 | ORPHA:89844 |
| LAMB1 | laminin subunit beta 1 | ORPHA:352682 |
| MACF1 | microtubule actin crosslinking factor 1 | ORPHA:572013 |
| NDE1 | nudE neurodevelopment protein 1 | ORPHA:89844 |
| PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | ORPHA:95232 |
| PHGDH | phosphoglycerate dehydrogenase | ORPHA:583607 |
| PSAT1 | phosphoserine aminotransferase 1 | ORPHA:583602 |
| PSPH | phosphoserine phosphatase | ORPHA:583612 |
| RAB18 | RAB18, member RAS oncogene family | ORPHA:2510 |
| RAB3GAP1 | RAB3 GTPase activating protein catalytic subunit 1 | ORPHA:2510 |
| RAB3GAP2 | RAB3 GTPase activating non-catalytic protein subunit 2 | ORPHA:2510 |
| RELN | reelin | ORPHA:89844 |
| TBC1D20 | TBC1 domain family member 20 | ORPHA:2510 |
| TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 | ORPHA:352682 |
| TUBA1A | tubulin alpha 1a | ORPHA:171680 |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）