Table 2.

Syndromic ASD cases suggested by genotype-phenotype correlation

Case	Gender	Age	Cause of Death	Mutation	Associated Syndrome	Clinical Symptoms
797	M	9	Drowning	ADNP Ms PQBP1 Ms	HVDAS RENS1, ID (Redin et al. 2014)	Language and developmental delay, ADD, mild hypotonia
AN01570	F	18	SUDEP	PTEN LOF	Cowden syndrome (Tan et al. 2011), autism with macrocephaly	Large brain size noted at autopsy, epilepsy
AN16641	M	9	SUDEP	ARID1B Ms CACNA1C Ms SLC6A8 LOF	MRD12 (Timothy syndrome) CCDS1	FH seizures and speech delay, febrile seizures from 3 years, language delay, hyperactivity, ID, multiplex developmental disorder
5278	F	15	Drowning, seizure disorder	CACNA1H Ms SCN1A LOF	Epilepsy susceptibility Dravet syndrome, GEFSP2, FEB3A (Fujiwara et al. 2003, Depienne et al. 2010, Allen et al. 2013)	Progressed from febrile seizures in infancy to non-febrile and generalized tonic-clonic seizures
AN16115	F	11	Drowning, seizure disorder	SCN1A Ms	Dravet syndrome (Gaily et al. 2013), GEFSP2, FEB3A	FH seizures and neuropsychiatric disease, progressed from febrile seizures in infancy to febrile, tonic-clonic, and potentially myoclonic seizures, mild ID, hyperlexia
AN09714	M	60	Pancreatic cancer	SCN2A LOF (SGSM3 Ms predicted to be benign)	EIEE11, BFIS3	Seizures from 3 years old, likely episode of status epilepticus, delayed motor milestones, ID