RS863225243 DIAPH1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Deafness
Autosomal dominant nonsyndromic hearing loss 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Deafness
Autosomal dominant nonsyndromic hearing loss 1
Other Variants in DIAPH1