RS730882242 DIAPH1

Health Risk Chr 5:141573518
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What This Variant Does
"CLNSIG=5
Associated Conditions
Global developmental delay
Microcephaly
Epilepsy
Failure to thrive
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Autosomal dominant nonsyndromic hearing loss 1
Global developmental delay
Microcephaly
Epilepsy
Failure to thrive
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Autosomal dominant nonsyndromic hearing loss 1
Other Variants in DIAPH1
rs1476157529 rs201149420 rs370849059 rs727504838 rs376220834 rs200004048 rs182139018 rs863225242 rs863225243 rs876657776
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