NGS Balkenagenesie (Agenesie des Corpus callosum)

Zugehörige Erkrankungen:
Proud Syndrom
Nicht-ketonische Hyperglycemie
Chudley-McCullough Syndrom
Kallmann syndrome
X-linked Hydrocephalus
MASA Syndrom
Pyruvat Dehydrogenase Defizienz
Warburg Micro Syndrom
TARP Syndrom
Andermann Syndrom
Spastic paraplegia Type 11
Mowat-Wilson Syndrom

Gen-Panel (44 Gene)
AKT3, ARID1A, ARID1B, ARX, B3GALTL, C12orf57, CDK5RAP2, DISC1, DYNC1H1, EOMES, EPG5, FOXG1, GCSH, GLDC, GPSM2, HCCS, KAL1, KIF7, L1CAM, LRP2, MED12, MID1, NDE1, NFIA, OFD1, OPHN1, PAX6, PDHB, PTCH1, RAB3GAP1, RAB3GAP2, RBM10, SLC12A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SPG11, TUBA1A, TUBB1, TUBB2B, TUBB3, UPF3B, VAX1, ZEB2