Genotype and Phenotype Data for 58 Participants with MED13L Variants

Clinical and behavioral phenotypic data from caregivers for 58 participants with confirmed MED13L syndrome variants. The dataset, provided by Saif Khan, was last updated in May 2026 and is available as an XLSX file. It aims to contribute to understanding the genetic and phenotypic diversity of this rare neurodevelopmental disorder.

Use Cases

• Correlating specific genetic variants with clinical presentations based on caregiver-reported phenotypic data.
• Identifying common behavioral or clinical features within the MED13L syndrome cohort.
• Contributing to the catalog of pathogenic MED13L polymorphisms for future diagnostic reference.
• Informing potential clinical care pathways for pediatric patients with MED13L syndrome.

Strengths

• Data is focused on a specific, rare disorder with 58 confirmed participants.
• Includes caregiver-provided clinical and behavioral data, offering a unique perspective.
• Dataset is shared under a permissive CC-BY-4.0 license for reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is small in size (96.7 KB), indicating a limited scope.

Provenance

Source

Saif Khan via figshare.

Collection Method

Likely gathered from caregiver-provided clinical/behavioral reports and genetic variant analysis.

Freshness

Last updated 2026-05-30 23:53:24; freshness should be verified.