Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
ORPHA:603448疾病暂无中文名
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment,dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness.
别名
CIMDAG syndrome
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| VPS4A | vacuolar protein sorting 4 homolog A | Disease-causing germline mutation(s) (loss of function) 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；本条目在该版本中无中文名
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）