RS3075570 DIAPH1

Health Risk Chr 5:141573997
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Associated Conditions
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Autosomal dominant nonsyndromic hearing loss 1
DIAPH1-related disorder
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
DIAPH1-related disorder
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Autosomal dominant nonsyndromic hearing loss 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Autosomal dominant nonsyndromic hearing loss 1
DIAPH1-related disorder
Inborn genetic diseases
Autosomal dominant nonsyndromic hearing loss 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Other Variants in DIAPH1
rs1476157529 rs201149420 rs370849059 rs727504838 rs376220834 rs200004048 rs730882242 rs182139018 rs863225242 rs863225243
Ask Dr. Hemsworth about this variant