Dear Colleagues,

Intellectual disability (ID) is caused by mutations in several different genes. It is a substantial burden for affected patients and their families. Syndromic forms of ID are characterized by the combination of ID with other phenotypic abnormalities, such as epilepsy, dysmorphic features, skeletal aberrations, etc.

In recent decades, mutations in a large number of genes have been identified, leading to autosomal-dominant, autosomal-recessive and X-linked ID syndromes. Together with ground-breaking biochemical work, this has revealed a network of genes involved in ID. Modern technology, including genome editing and cell reprogramming, shed further light on the physiological function of the genes involved, as well as on the patho-mechanisms underlying syndromic ID. The question of the mechanisms behind the clinical variability of ID syndromes adds a further dimension to the problem. Deep understanding of the patho-mechanistic connections is fundamental for an improvement of diagnostics and prognosis of ID syndromes as well as the development of causative therapies.

In this Special Issue, we are looking for articles on the molecular factors of ID, their interconnection and their patho-mechanistic contribution. We particularly welcome work that has the potential to either improve diagnosis and prognosis or pave the way for experimental therapies.

Dr. Vera Kalscheuer
Prof. Dr. Susann Schweiger
Guest Editors

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• Intellectual disability (ID)
• pathomechanism
• experimental therapy
• gene-gene interaction
• clinical variability
• sexual dimorphism
• gene mutations
• phenotypic abnormalities
• ID syndromes
• monogenic disorders