Case Report and Systematic Review of SSR4-CDG Neonatal Phenotype

A systematic review aggregates 28 published cases of the ultra-rare genetic disorder SSR4-CDG. The analysis, including a new neonatal case, details clinical features like congenital heart defects, facial dysmorphism, and hypotonia. The data is descriptive, sourced from literature up to December 2025.

Use Cases

• Analyze the frequency of congenital heart defects across the 28 documented SSR4-CDG cases.
• Study the co-occurrence of clinical features like severe hypotonia and characteristic facial features in the patient cohort.
• Examine age-dependent phenotypic expression by comparing feature frequency across different age groups.
• Identify novel genetic variants, such as the 65.63 kb hemizygous deletion at Xq28, reported in the case study.

Strengths

• Provides a consolidated view of 28 published cases of an ultra-rare disorder.
• Includes detailed clinical data on features like congenital heart defects, present in 32.1% of the cohort.
• Reports a novel genetic variant (65.63 kb deletion) from a recent neonatal diagnosis.

Limitations

• Very small sample size of 28 cases limits statistical power and generalizability.
• Data is descriptive from a literature review; no formal meta-analysis was performed due to case heterogeneity.
• The primary data is narrative text in a DOCX file, not structured for direct computational analysis.

Provenance

Source

figshare, authored by Lingxia Zhao.

Collection Method

Systematic literature review and a new case report.

Time Range

Literature coverage up to December 2025.

Freshness

Literature review includes reports published up to December 2025; dataset last updated March 2026.

Geography

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