Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
ORPHA:617449疾病暂无中文名
定义 英文原文（暂无中文）
A rare genetic disorder involving multiple structures of the eye, characterized by the combination of congenital aphakia and panocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posteriour segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed.
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）