RS778899637 KAT6B
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Associated Conditions
Seizure
Macrocephaly
Generalized joint hypermobility
Joint laxity
Delayed speech and language development
Blepharophimosis - intellectual disability syndrome
SBBYS type
Genitopatellar syndrome
Inborn genetic diseases
Seizure
Macrocephaly
Generalized joint hypermobility
Joint laxity
Delayed speech and language development
Blepharophimosis - intellectual disability syndrome
Other Variants in KAT6B