非特异性综合征性智力障碍
Non-specific syndromic intellectual disability
ORPHA:528084疾病
定义 英文原文（暂无中文）
A rare genetic intellectual disability characterized by the association of intellectual disability with variable other anomalies in the absence of a well-characterized syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioral problems, and abnormalities of various other organ systems.
别名
复杂性神经发育障碍
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁隐性
- 发病年龄
- 儿童期、婴儿期
相关基因 113
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PRPF8 | pre-mRNA processing factor 8 | Disease-causing germline mutation(s) (loss of function) in |
| CACNA1C | calcium voltage-gated channel subunit alpha1 C | Disease-causing germline mutation(s) in |
| HTT | huntingtin | Disease-causing germline mutation(s) in |
| BRWD3 | bromodomain and WD repeat domain containing 3 | Disease-causing germline mutation(s) in |
| PAK3 | p21 (RAC1) activated kinase 3 | Disease-causing germline mutation(s) (loss of function) in |
| NTNG1 | netrin G1 | Disease-causing germline mutation(s) in |
| GRIK2 | glutamate ionotropic receptor kainate type subunit 2 | Disease-causing germline mutation(s) (loss of function) in |
| HUWE1 | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Disease-causing germline mutation(s) in |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing germline mutation(s) in |
| SRCAP | Snf2 related CREBBP activator protein | Disease-causing germline mutation(s) in |
| CNOT3 | CCR4-NOT transcription complex subunit 3 | Disease-causing germline mutation(s) in |
| SETD5 | SET domain containing 5 | Disease-causing germline mutation(s) in |
| EEF1A2 | eukaryotic translation elongation factor 1 alpha 2 | Disease-causing germline mutation(s) in |
| RLIM | ring finger protein, LIM domain interacting | Disease-causing germline mutation(s) in |
| AGO1 | argonaute RISC component 1 | Disease-causing germline mutation(s) in |
| AGO2 | argonaute 2, RISC catalytic component | Disease-causing germline mutation(s) (loss of function) in |
| BCORL1 | BCL6 corepressor like 1 | Disease-causing germline mutation(s) in |
| CHD5 | chromodomain helicase DNA binding protein 5 | Disease-causing germline mutation(s) (loss of function) in |
| CSNK2A1 | casein kinase 2 alpha 1 | Disease-causing germline mutation(s) in |
| NAA15 | N-alpha-acetyltransferase 15, NatA auxiliary subunit | Disease-causing germline mutation(s) (loss of function) in |
| RORA | RAR related orphan receptor A | Disease-causing germline mutation(s) in |
| TBR1 | T-box brain transcription factor 1 | Disease-causing germline mutation(s) in |
| TCF20 | transcription factor 20 | Disease-causing germline mutation(s) in |
| TCF7L2 | transcription factor 7 like 2 | Disease-causing germline mutation(s) in |
| TRIP12 | thyroid hormone receptor interactor 12 | Disease-causing germline mutation(s) in |
| XPO1 | exportin 1 | Disease-causing germline mutation(s) in |
| ZNF526 | zinc finger protein 526 | Disease-causing germline mutation(s) in |
| WDFY3 | WD repeat and FYVE domain containing 3 | Disease-causing germline mutation(s) (loss of function) in |
| SETD1A | SET domain containing 1A, histone lysine methyltransferase | Disease-causing germline mutation(s) in |
| PLXNA1 | plexin A1 | Disease-causing germline mutation(s) in |
| WARS1 | tryptophanyl-tRNA synthetase 1 | Disease-causing germline mutation(s) in |
| KMT2B | lysine methyltransferase 2B | Disease-causing germline mutation(s) in |
| RNF2 | ring finger protein 2 | Disease-causing germline mutation(s) in |
| JARID2 | jumonji and AT-rich interaction domain containing 2 | Disease-causing germline mutation(s) in |
| ACTL6A | actin like 6A | Disease-causing germline mutation(s) (loss of function) in |
| PSMD12 | proteasome 26S subunit, non-ATPase 12 | Disease-causing germline mutation(s) in |
| MED13 | mediator complex subunit 13 | Disease-causing germline mutation(s) in |
| TNRC6B | trinucleotide repeat containing adaptor 6B | Disease-causing germline mutation(s) in |
| ACTL6B | actin like 6B | Disease-causing germline mutation(s) in |
| ZMIZ1 | zinc finger MIZ-type containing 1 | Disease-causing germline mutation(s) in |
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）