Table 1 Pathogenic/Likely pathogenic rates by clinical annotation and family structure among the 371 DD/ID-affected individuals
From: Genomic diagnosis for children with intellectual disability and/or developmental delay
Characteristic | Individuals (n (%)) | Individuals with P/LP result (n (%)) |
|---|---|---|
Age (years) | ||
 2–5 | 96 (25.8) | 26/96 (27.1) |
 6–12 | 165 (44.5) | 42/165 (25.4) |
 13–18 | 61 (16.5) | 20/61 (32.8) |
 19–40 | 47 (12.7) | 15/47 (32.0) |
  > 40 | 2 (0.54) | 0/2 (0.00) |
Average age (range) (years) | 10.56 (2–54) | |
Sex | ||
 Male | 214 (57.7) | 52/214 (24.3) |
 Female | 157 (42.3) | 51/157 (32.5) |
Clinical specifics | ||
 Intellectual disability, mild (HP:0001256) | 2 (0.5) | 0/2 (0) |
 Intellectual disability, moderate (HP:0002342) | 298 (80.3) | 82/298 (27.5) |
 Intellectual disability, severe (HP:0010864) | 44 (11.9) | 11/44 (25) |
 Speech delay (HP:0000750) | 255 (68.7) | 69/255 (27.1) |
 Seizures (HP:0001250) | 168 (45.3) | 52/168 (30.9) |
 Facial dysmorphism (HP:0001999) | 112 (30.2) | 33/112 (29.5) |
 Autism spectrum disorder (HP:000729) | 95 (25.6) | 18/95 (18.9) |
 Hypotonia (HP:0001252) | 75 (20.2) | 26/75 (34.6) |
 Positive brain MRI | 65 (17.5) | 18/64 (28.1) |
 Macrocephaly (HP:0000256) | 36 (9.70) | 9/36 (25.0) |
 Microcephaly (HP:0000252) | 34 (9.16) | 16/34 (47.0) |
 ADHD (HP:0007018) | 27 (7.28) | 7/27 (25.9) |
 Failure to thrive (HP:0001508) | 22 (5.90) | 6/22 (27.3) |
 Short stature (HP:0004322) | 18 (4.85) | 8/18 (44.4) |
Previous genetic testing | ||
 Microarray | 222 (59.8) | 61/222 (27.5) |
 Single gene/Gene panel | 142 (38.3) | 43/142 (30.3) |
 Karyotype | 108 (29.1) | 39/108 (36.1) |
 Fragile-X | 101 (27.2) | 28/101 (27.7) |
 Mito DNA Screen | 28 (7.55) | 7/28 (25.0) |
Family structure | ||
 Trio | 309 (83.3) | 90/309 (29.1) |
 Duo | 42 (11.3) | 8/42 (19.0) |
 Singleton | 20 (5.4) | 3/20 (15.0) |