FAQs & Quick Facts

Answers to common questions

Welcome to our FAQ page, designed to address your queries about MED13L-RND. We provide insightful answers to common questions, helping you navigate the complexities of the condition.

Our focus is to empower you with knowledge and support, as you join a community dedicated to understanding and managing MED13L-RND.

Medical Information & Diagnosis

The MED13L gene is a fundamental component of our genetic structure. It plays a crucial role in regulating the expression of other genes and is associated with various biological functions.

MED13L-Related Intellectual Disorder (MED13L-RID) is a rare genetic condition resulting from mutations or variants in the MED13L gene. It is characterized by intellectual disabilities and a range of developmental challenges.

Diagnosing MED13L-RID involves genetic testing, primarily through whole-exome sequencing (WES) or whole-genome sequencing (WGS) to identify mutations or variants in the MED13L gene.

As of October 1st, 2023, the ICD-10 code for MED13L-Related Intellectual Disorder (MED13L-RND) is Q87.85. This code is essential for accurate diagnosis and medical coding for individuals with this condition.

Treatment & Management

Treatment for MED13L-RID is personalized and may encompass therapies such as speech and occupational therapy, educational support, and the management of associated medical issues.  The MED13L Foundation is actively supporting multidisciplinary research initiatives to discover therapeutics to lessen the impact of the symptoms of MED13L-RID.

Individuals with MED13L-RID may benefit from a multidisciplinary healthcare team, including geneticists, neurologists, cardiologists, developmental pediatricians, speech therapists, and occupational therapists, vision therapists, among others.

Genetic & Development Aspects

MED13L genetic variants can occur spontaneously or be inherited from parents. These variants typically do not relate to any specific actions or lifestyle choices.

MED13L-RID can be inherited from parents or arise spontaneously due to de novo mutations. Genetic counseling is recommended for families with a history of MED13L-RND.

Many individuals with MED13L-RND also display traits associated with autism spectrum disorder (ASD), but not all individuals with MED13L-RND have ASD. The connection between MED13L-RND and ASD is an area of ongoing research.

MED13L-RID is also known by other names, including MED13L haploinsufficiency syndrome, MED13L Syndrome, 12q24.21, MED13L, PROSIT240,  THRAP2,  TRAP240L.  It is most commonly referred to as MED13L

Prognosis & Support

There is currently no evidence to suggest that MED13L-RND disproportionately affects one gender over the other. It can occur in individuals of any gender.

The future for individuals with MED13L-RND can vary widely depending on the severity of their symptoms and the support they receive. Early intervention and comprehensive care can greatly improve outcomes.

No, the severity of MED13L-RID can vary significantly among individuals. Some may have milder symptoms, while others may experience more profound challenges. Each person’s experience with MED13L-RID is unique.

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