RS199470484 KAT6B
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What This Variant Does
"CLNSIG=5
Associated Conditions
Blepharophimosis - intellectual disability syndrome
SBBYS type
Genitopatellar syndrome
KAT6B-related multiple congenital anomalies syndrome
Blepharophimosis - intellectual disability syndrome
SBBYS type
Genitopatellar syndrome
KAT6B-related multiple congenital anomalies syndrome
Other Variants in KAT6B