Table 1.
Phenotype information of patients included in the study
| Patient | Sex | Age a | Diagnosis b | Dysmorphism | Malformation(s) | Other |
|---|---|---|---|---|---|---|
| 1.1 | F | 12 y | ID | Yes | Multiple: multicystic dysplastic kidney (left), ventriculomegaly, temporal white matter loss, pectus excavatum | Deafness, myopia, nystagmus, dysphagia, mild scoliosis |
| 3.2 | M | 6 mo | Growth delay | Yes | Cerebral: microcephaly, gyral simplification, myelination delay | Spastic quadriparesis |
| 6.3 | M | 11 y | PDD, mild ID | Yes | Mild: pectus excavatum | Café au lait spots. Mother: school difficulties, epilepsy, murmur, arthrosis |
| 10.4 | M | 7 y | Global DD, PDD | No | No | Hypotonia, café au lait spots, pes planus |
| 11.4 | M | 13 y | Global DD | No | No | Simple febrile convulsions, hypotonia, diminished deep tendon reflexes |
| 14.5 | F | 14 y | Mild ID, growth delay | Yes | Multiple: microcephaly, thick corpus callosum, malocclusion, filum terminale lipoma, sacral agenesis | Feeding difficulties |
| 17.6 | M | 3 y | DD, autism | No | No | - |
| 20.7 | M | 18 mo | Speech delay | Yes | Craniofacial: trigonocephaly, labiopalatine cleft | Heterochromia, facial asymmetry |
| 23.8 | M | 13 y | DD, mild ID | No | Multiple: cerebellar atrophy, malocclusion, valgus feet | Ataxia |
| 26.9 | M | 5 y | Global DD, mild ID | Yes | No | Obesity, ataxia, buccolingual dyspraxia, increased lactates (blood & LCR) |
| 29.10 | M | 17 y | ID, autism | Yes | No | Obesity, retinitis pigmentosa |
| 32.11 | M | 2 y | DD | Yes | Cerebral: microcephaly, pons size slightly reduced, 4th ventricle size slightly increased | Short stature, epilepsy, gastroesophageal reflux |
| 35.12 | M | 17 mo | Global DD | Yes | Multiple: optic atrophy, thin corpus callosum, cerebral atrophy, myelination delay | Epilepsy, hypotonia, mild limb spasticity |
| 38.13 | F | 6 y | ID | No | No | - |
| 41.14 | M | 22 mo | Global DD | Yes | No | Ligament hypermobility. Father: learning disability |
| 44.15 | M | 4 y | DD, autism | No | Craniofacial: submucosal palatine cleft | Velopharyngeal insufficiency |
| 47.16 | M | 3 y | Global DD | No | Pulmonary valve stenosis | Gastroesophageal reflux |
| 50.17 | F | 10 y | Global DD | No | No | Epilepsy |
| 53.18 | M | 5 y | Global DD | No | No | Tall stature |
| 56.19 | F | 11 y | Mild ID | No | No | Strabismus |
| 59.20 | F | 34 mo | Atypical development | No | No | Mild facial asymmetry |
ay: years, mo: months.
bID: intellectual disability, PDD: pervasive developmental disorder, DD: developmental delay.