RS781577050 DIAPH1
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Associated Conditions
Autosomal dominant nonsyndromic hearing loss 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Beta-D-mannosidosis
Autosomal dominant nonsyndromic hearing loss 1
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Beta-D-mannosidosis
Other Variants in DIAPH1