孤立性先天性小头畸形
Isolated congenital microcephaly
ORPHA:199642疾病
定义
孤立性先天性小头畸形是一种罕见的神经系统疾病，其主要临床表现为出生时头围缩小，大脑结构没有明显异常。该病可能是一个孤立性疾病，也可能与惊厥、发育迟缓、智力障碍、平衡障碍、听力丧失或视力问题有关。
基本事实
- 发病年龄
- 产前、新生儿期
相关基因 32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 |
|---|---|---|
| ANKLE2 | ankyrin repeat and LEM domain containing 2 | ORPHA:2512 |
| ASPM | assembly factor for spindle microtubules | ORPHA:2512 |
| CDK5RAP2 | CDK5 regulatory subunit associated protein 2 | ORPHA:2512 |
| CDK6 | cyclin dependent kinase 6 | ORPHA:2512 |
| CENPE | centromere protein E | ORPHA:2512 |
| CEP135 | centrosomal protein 135 | ORPHA:2512 |
| CEP152 | centrosomal protein 152 | ORPHA:2512 |
| CIT | citron rho-interacting serine/threonine kinase | ORPHA:2512 |
| COPB2 | coat protein complex I subunit beta 2 | ORPHA:2512 |
| CPAP | centrosome assembly and centriole elongation protein | ORPHA:2512 |
| DPP6 | dipeptidyl peptidase like 6 | ORPHA:2514 |
| KIF14 | kinesin family member 14 | ORPHA:2512 |
| KNL1 | kinetochore scaffold 1 | ORPHA:2512 |
| LMNB1 | lamin B1 | ORPHA:2514 |
| MCM7 | minichromosome maintenance complex component 7 | ORPHA:2512 |
| MCPH1 | microcephalin 1 | ORPHA:2512 |
| METTL5 | methyltransferase 5, N6-adenosine | ORPHA:2512 |
| MFSD2A | MFSD2 lysolipid transporter A, lysophospholipid | ORPHA:2512 |
| NCAPD3 | non-SMC condensin II complex subunit D3 | ORPHA:2512 |
| NUP37 | nucleoporin 37 | ORPHA:2512 |
| PDCD6IP | programmed cell death 6 interacting protein | ORPHA:2512 |
| PHC1 | polyhomeotic homolog 1 | ORPHA:2512 |
| PYCR2 | pyrroline-5-carboxylate reductase 2 | ORPHA:2512 |
| SARS1 | seryl-tRNA synthetase 1 | ORPHA:2512 |
| SASS6 | SAS-6 centriolar assembly protein | ORPHA:2512 |
| STIL | STIL centriolar assembly protein | ORPHA:2512 |
| TAF13 | TATA-box binding protein associated factor 13 | ORPHA:2512 |
| TRAPPC10 | trafficking protein particle complex subunit 10 | ORPHA:2512 |
| TRAPPC14 | trafficking protein particle complex subunit 14 | ORPHA:2512 |
| WARS1 | tryptophanyl-tRNA synthetase 1 | ORPHA:2512 |
| WDR62 | WD repeat domain 62 | ORPHA:2512 |
| ZNF335 | zinc finger protein 335 | ORPHA:329228 |
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）