The MAPK8IP3-related neurodevelopmental disorder, also known as a neurodevelopmental disorder with or without variable brain anomalies (NEDBA), is a rare genetic condition caused by harmful changes (pathogenic variants) in the MAPK8IP3 gene, leading to neurodevelopmental disease.
Neurodevelopmental disabilities are common in individuals with MAPK8IP3-related disorders. The MAPK8IP3-related neurodevelopmental disorder causes mild delays in walking, muscle tone (both hypertonia and hypotonia have been reported), variable intellectual impairment, and poor speech from infancy or early childhood.
On an MRI, some individuals have brain abnormalities. Early puberty, short stature, and different facial features have also been reported.
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A MAPK8IP3-related developmental disorder is caused by harmful changes in the MAPK8IP3 gene. According to published literature, 18 individuals are affected.
There is no information about the number of people living with MAPK 8P3-related disorders. According to estimates, worldwide there is approximately one MAPK8IP3 variant per 100,000 people (Chung, 2020). Currently, 18 individuals have been reported to be affected.
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