Table 2.

Recurring Diagnoses: Genetic Conditions Seen Three or More Times

Gene	Occurrences, n	Associated clinical syndrome
AHDC1	5	Xia-Gibbs syndrome (AD)
SYNGAP1	3	Intellectual disability (AD)
ATP1A3	4	ATP1A3-related neurologic conditions (AD)
CHD7	3	CHARGE syndrome (coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear anomalies) (AD)
EP300	3	Rubinstein-Taybi syndrome 2 (AD)
FOXG1	3	Rett syndrome, congenital variant (AD)
PMM2	3	Congenital disorder of glycosylation, type Ia (AR)

AD, autosomal dominant; AR, autosomal recessive.