Demographic and clinical features of sequenced patients
| Trio | Sex | Age | Race | Symptoms | Genetic tests performed clinically before enrolment in study |
| 1 | M | 8 | Indian | Developmental delay, possible autism, microcephaly, dysmorphic features, spine abnormalities, sensorineural hearing loss | Chromosome microarray (paternally inherited 15q13.3 dup), Fragile X |
| 2 | M | 3 | European-American | Developmental delay, multifocal epilepsy, involuntary movements, abnormal liver function, absent tears | Chromosomes, chromosome microarray, Niemann-Pick type C, hepatocerebral mDNA depletion panel (POLG1, DGUOK, MPV17), ataxia with oculomotor apraxia type 2 (SETX), Allgrove Syndrome, ataxia telangectasia (ATM), Rett (MECP2), alpha—1 antitrypsin (AAT), congenital disorder of glycosylation (transferrin isoelectric focusing and N-glycan analysis), metabolic tests (Tay Sachs, Sandhoff, mannosidosis, mucolipidosis II, Krabbe, metachromatic leukodystrophy, adrenoleukodystrophy, GAMT, plasma amino acids, plasma acylcarnitine, urine organic acids). |
| 3 | M | 3 | European-American | Developmental delay, autism, coarctation of the aorta, tethered cord, congenital nystagmus and strabismus | Chromosome microarray (maternally inherited 15q26.3 deletion), Smith-Lemli-Opitz, Aarskog |
| 4 | F | adult | European-American | multiple congenital abnormalities and macular degeneration | Chromosome microarray (2 stretches of loss of heterozygosity on chromosome 2), Fragile X (premutation carrier) |
| 5 | F | 12 | European-American | Severe intellectual disability, autism, bilateral hyperpronated feet, facial dysmorphisms | Chromosomes, chromosome microarray, Rett, Angelman methlyation, Fragile X, Cohen Syndrome |
| 6 | M | 18 | European-American | Intellectual disability, epilepsy, panhypopituitarism, hypertension, bifid great toe, vertebral segmentation anomalies and sagittal cleft of the vertebra, hypoplastic 13th rib, and delayed bone age | Chromosomes, chromosome microarray, Borgeson-Forssman-Lehman syndrome |
| 7 | M | 2 | European-American | Microcephaly, facial asymmetry, acyanotic Tetralogy of Fallot; history of small muscular ventricular septal defect; right aortic arch with mirror image branching; malformed right ear with hearing loss, bifid uvula, cleft soft palate | Chromosome microarray, CHARGE (CHD7) |
| 8 | M | 16 | European-American | Severe intellectual disability, dysmorphic features evident, bicuspid aortic valve, bilateral coronal craniosynostoses,quadriplegic cerebral palsy, bilateral inguinal hernias, G-tube placement and obstructive sleep apnoea | Chromosome microarray, craniosynostosis syndromes (FGFR2), non-syndromic craniosynostosis (FGFR3) Saethre-Chotzen syndrome (TWIST) |
| 9 | F | 4 | Algerian | Developmental delay, bilateral congenital cataracts and strabismus, ventricular and atrial septal defects, a unilateral clubfoot, and unilateral choanal atresia | Chromosome microarray (Long stretch of loss of heterozygosity on chromosome 17), CHARGE (CHD7), PAX6, 7-dehydrocholesterol and cholesterol levels |
| 10 | M | 11 | European-American | Attention deficit hyperactivity disorder, language delays, coarse facial features, bilateral mandibular cysts, low muscle tone | Chromosome microarray, Costello (H-RAS), Gorlin (PTCH), Comprehensive Noonan sequencing array (BRAF, HRAS, KRAS MAPT2K1, MAPTK2, PTPN11, RAF1, SHOC2 and SOS1), MPS panel |
| 11 | M | 9 | European-American | Severe intellectual disability, developmental delay, seizures/infantile spasms, hypotonia and minor dysmorphisms | Chromosomes, chromosome microarray (familial Xp11.4 duplication), acylcarnitine profile, plasma amino acids, urine organic acids, creatine/guanidinoacetate analysis in urine and blood |
| 12 | F | 4 | European-American | Speech delay, borderline microcephaly, failure to thrive, dysplastic nails, ventricular septal defect and hip dysplasia | Chromosomes, chromosome microarray |