Additional file 4. Comparison of clinical features in aniridia, Peters anomaly, and this patient. ✓ = present. n.k. = not known due to corneal opacity.

Figshare2021-01-26 更新30

MOESM1 of Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

罕见病临床表型

肌肉功能评估

Additional file 1. Muscle fatty infiltration score on leg MRI of 21 NLSDM patients. Score of the fatty infiltration in individual muscles. (L): Left leg was more severe and selected for scoring; (R),

Figshare2024-02-08 更新40

DataSheet5_SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.pdf

罕见病临床表型

SRD5A3-CDG诊断

Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often

NIAID Data Ecosystem30

<p>Clinical presentation of reported COG-CDG patients.</p>

资源简介：

相关数据集