Condition: BAKER-GORDON SYNDROME
rs1135402761 in
SYT1 gene and
BAKER-GORDON SYNDROME
PMID 30107533 2018 SYT1-associated neurodevelopmental disorder: a case series.
PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.
PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.