NGS of 7 gene panel: ACTB, ACTG1, DHCR7, FOXL2, KAT6B, MED12, UBE3B

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Documentation:
Ref: LV2996 Categories: , , , , , , , Diseases: Blepharophimosis (B), epicanthus inversus, and ptosis; B-ptosis-intellectual disability syndrome; Say-Barber-Biesecker-Young-Simpson; Genitopatellar; Ohdo; Smith-Lemli-Opitz; Baraitser-Winter synGenes: ACTB, UBE3B, KAT6B, DHCR7, FOXL2, ACTG1, MED12Delivery term: 42 days