Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
ORPHA:659904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 neurodevelopmental delay, intellectual disability, variable structural eye defects including anophthalmia, microphthalmia, coloboma, optic nerve and iris abnormalities. Hypotonia and heart defects are present in the majority of the patients. Additional variable clinical features may include growth failure, skeletal abnormalities, kidney anomalies, sleeping problems and behavioral disturbances such as autism and anxiety.
别名
PRR12-related neuroocular syndrome
基本事实
- 遗传方式
- 常染色体显性
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PRR12 | proline rich 12 | 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）