TABLE 2.
Frequencies for categorical variables in the whole cohort.
| Categorical variables | Female | Male |
| Gender | 47 (67.1%) | 23 (32.9%) |
| 0/“never”/condition not present | 1/“ever”/condition present | |
| IUGR | 43 (61.4%) | 27 (38.6%) |
| Postnatal growth failure | 37 (52.9%) | 33 (47.1%) |
| Microcephaly | 11 (15.7%) | 59 (84.3%) |
| Facial asymmetry | 61 (87.1%) | 99 (12.9%) |
| Round face | 38 (54.3%) | 32 (45.7%) |
| Enlarged face | 47 (67.1%) | 23 (32.9%) |
| Hearing problems | 40 (57.1%) | 30 (42.9%) |
| Ear alterations | 32 (45.7%) | 38 (54.3%) |
| Epicanthus | 37 (52.9%) | 33 (47.1%) |
| Ophtalmic anomalies | 38 (54.3%) | 32 (45.7%) |
| Prominent superciliary arches | 65 (92.9%) | 5 (7.1%) |
| Downslanted palpebral fissures | 56 (80.0%) | 14 (20.0%) |
| Hypertelorism | 29 (41.4%) | 41 (58.6%) |
| Palpebral fissures size anomalies | 64 (91.4%) | 6 (8.6%) |
| Nasal defects | 56 (80.0%) | 14 (20.0%) |
| Narrow nasal bridge | 26 (37.1%) | 44 (62.9%) |
| Short philtrum | 60 (85.7%) | 10 (14.3%) |
| Downturned corners of the mouth | 62 (88.6%) | 8 (11.4%) |
| Lip and palate anomalies | 63 (90.0%) | 7 (10.0%) |
| Micrognathia | 40 (57.1%) | 30 (42.9%) |
| Thick lower lip | 54 (77.1%) | 16 (22.9%) |
| Big mouth | 52 (74.3%) | 18 (25.7%) |
| Teeth alterations | 36 (51.4%) | 34 (48.6%) |
| Neck anomalies | 57 (81.4%) | 13 (18.6%) |
| Single palmar crease | 58 (82.9%) | 12 (17.1%) |
| Breath problems | 43 (61.4%) | 27 (38.6%) |
| Cardiac anomalies | 46 (65.7%) | 24 (34.3%) |
| Difficult to feed | 42 (60.0%) | 28 (40.0%) |
| Larynx and epiglottis alterations | 47 (67.1%) | 23 (32.9%) |
| Gastrointestinal anomalies | 31 (44.3%) | 39 (55.7%) |
| Renal anomalies | 61 (87.1%) | 9 (12.9%) |
| Genital anomalies | 54 (77.1%) | 16 (22.9%) |
| Anal anomalies | 65 (92.9%) | 5 (7.1%) |
| Limb anomalies | 62 (88.6%) | 8 (11.4%) |
| Alterations in hands or feet | 39 (55.7%) | 31 (44.3%) |
| Spinal anomalies | 52 (74.3%) | 18 (25.7%) |
| Scoliosis | 45 (64.3%) | 25 (35.7%) |
| Joint dislocation includes hip | 55 (78.6%) | 15 (21.4%) |
| Joint laxity | 39 (55.7%) | 31 (44.3%) |
| Pes cavus | 57 (81.4%) | 13 (18.6%) |
| MRI images | 18 (25.7%) | 52 (74.3%) |
| Anomalies in MRI images | 32 (61.5%) | 20 (38.5%) |
| Hypotonia | 21 (30.0%) | 49 (70.0%) |
| Hypertonia | 63 (90.0%) | 7 (10.0%) |
| Seizures | 66 (94.3%) | 4 (5.7%) |
| Developmental delay | 4 (5.7%) | 66 (94.3%) |
| Mild ID | 62 (88.6%) | 8 (11.4%) |
| Moderate ID | 56 (80.0%) | 14 (20.0%) |
| Severe ID | 39 (55.7%) | 31 (44.3%) |
| Behavior anomalies | 50 (71.4%) | 20 (28.6%) |
| Autism (ASD) | 61 (87.1%) | 9 (12.9%) |
| Hyperactivity | 53 (75.7%) | 17 (24.3%) |
| Aggressive and self-mutilation | 43 (61.4%) | 27 (38.6%) |
| Stereotypes and repetitive movements | 39 (55.7%) | 31 (44.3%) |
| Frustration intolerance | 44 (62.9%) | 26 (37.1%) |
| Uncontrolled laughs | 50 (71.4%) | 20 (28.6%) |
| Sleeping problems | 32 (45.7%) | 38 (54.3%) |
| Cephalic support | 19 (27.1%) | 51 (72.9%) |
| Able to stay seated | 22 (31.4%) | 48 (68.6%) |
| Able to stay seated unaided | 24 (34.3%) | 46 (65.7%) |
| Able to walk unaided | 29 (41.4%) | 41 (58.6%) |
| Able to walk with help | 23 (32.9%) | 47 (67.1%) |
| Use diapers | 38 (55.7%) | 31 (44.3%) |
| Interact with the environment | 20 (28.6%) | 50 (71.4%) |
| Can read/write | 56 (83.4%) | 12 (17.6%) |
| Use alternative communicative tools | 39 (55.7%) | 29 (41.4%) |
| No words at all | 44 (65.7%) | 26 (34.3%) |
| Use less than 10 words | 43 (63.3%) | 25 (36.7%) |
| Short understandable sentences | 52 (76.5%) | 16 (23.5%) |
| High-pitched or horsed cry | 31 (44.3%) | 39 (55.7%) |
| Cry w/o sound | 68 (97.2%) | 2 (2.8%) |
| Family member no longer work for care | 38 (54.3%) | 32 (45.7%) |
| Surgery | 46 (67.1%) | 24 (32.9%) |
| Suspicion of pathology prior to diagnosis | 48 (68.6%) | 22 (31.4%) |
| Normal electro encephalogram | 54 (77.1%) | 16 (22.9%) |
| Normal metabolic screening | 53 (75.7%) | 17 (24.3%) |
| Additional duplication | 43 (61.4%) | 27 (38.6%) |
“1” means “ever” having a given condition compared to 0, “never” having the condition, taken from either of our two questionnaires, and curated from medical records.