# Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review

## TL;DR

This study uses family-reported data to better understand MED13L syndrome, a rare genetic disorder causing intellectual disability and other symptoms.

## Contribution

The study reveals new insights into the syndrome's under-recognized musculoskeletal features and genotype-phenotype correlations.

## Key findings

- Family-reported data confirmed key features of MED13L syndrome, including developmental delay and cardiac defects.
- Visual impairment and foot deformities were found to be more prevalent than previously recognized.
- Missense variants were associated with more severe impairments compared to truncated variants.

## Abstract

The GenIDA project aims to improve the understanding and management of rare genetic forms of intellectual disability by fostering collaboration among patients, caregivers, healthcare professionals, and research professionals. Clinical data is provided by patients’ families via a structured questionnaire to identify medically relevant insights and better understand the natural history of rare diseases. This study focused on MED13L syndrome, analyzing data from 41 patients in the GenIDA database and comparing it with 102 cases from the scientific literature and 6 new descriptions of patients from our medical center.

The GenIDA series confirmed the key features of MED13L syndrome, including global developmental delay, poor speech, intellectual disability, and cardiac defects (OMIM #616789), at frequencies similar to those reported in the literature. The GenIDA series identified a higher prevalence of visual impairment (76%) and highlighted under-recognized musculoskeletal issues, such as foot deformities, which had previously received little attention. This study highlights the value of family-reported data in describing the full phenotype of rare syndromes. A comprehensive review of published cases showed that patients with missense variants have more severe impairments, including increased cardiac defects, global developmental delay, and a higher incidence of epilepsy, than patients with premature truncated variants.

These findings highlight the importance of family involvement in rare disease research and the need for further studies to explore genotype-phenotype correlations to improve patient care and outcomes.

The online version contains supplementary material available at 10.1186/s11689-025-09618-4.