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1
ASTN1 gene linked to neurodevelopmental disorders.
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2
Bi-allelic variants cause neuronal migration issues.
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3
Common symptoms include developmental delay and intellectual disability.
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4
Brain imaging shows varied results.
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5
Comprehensive genomic testing is essential for diagnosis.
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6
Recognizing ASTN1's role aids in genetic counseling.
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7
Multi-gene effects are possible in some cases.
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8
Improved testing can uncover rare genetic variants.
Original Source(s)
A New Clue in Developmental Disorders
Bi-allelic mutations associated with intellectual disability and brain abnormalities
February 20, 2026
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2 min
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