Agenesis of the Corpus callosum (CCA)
Associated medical conditions:
Proud Syndrome
Non-ketonic hyperglycemia
Chudley-McCullough Syndrome
Kallmann syndrome
X-linked hydrocephalus
MASA syndrome
Pyruvate dehydrogenase deficiency
Warburg Micro Syndrome
TARP syndrome
Anderman Syndrome
Spastic Paraplegia type 11
Mowat Wilson Syndrome
CCA Panel (44 genes)
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.