Intellectual disorder type 98 caused by a novel NEXMIF variant: a case report and literature review

Key Points

• A novel variant in the NEXMIF gene is linked to intellectual disorder type 98, revealing important genetic insights.
• The report indicates the need for genetic testing, emphasizing its role in early diagnosis and informed reproductive choices.
• Observational analysis of literature enhances understanding of the NEXMIF mutational spectrum for intellectual disorders.
• This highlights the critical importance of early genetic screening for families affected by similar disorders.