Patient ID | Sex | First assessment (years) | Most recent assessment (years) | HC (z-score) | DQ | ASD | Developmental problem(s) | Other clinical features | MRI findings | Gene |
---|---|---|---|---|---|---|---|---|---|---|
1 | M | 3.0 | 5.2 | 3.6 | 75 | Â | Mild GDD with severe language delay | 2/3/4 syndactyly | MEG, PG, VM, PWMSA | PIK3CA |
2 | M | 1.5 | 4.1 | 3.2 | 55 | Â | Moderate GDD | Mild 2/3 syndactyly | MEG, PG, PWMSA | PIK3CA |
3 | M | 0.8 | 1.6 | 5.9 | 50* | Â | Moderate GDD | Recurrent respiratory infections, hypoglycaemia | MEG, PG, VM, PWMSA | PTEN |
4 | M | 2.3 | 6.5 | 4.0 | 73 | Suspected ASD | Mild GDD | NA | MEG, PG, PWMSA | PTEN |
5 | M | 0.4 | 0.7 | 6.7 | 62* | Â | Mild GDD | Liver haemangioma | MEG, PG, VM, PWMSA | MTOR |
6 | M | 2.7 | 8.2 | 4.5 | 80 | ASD | Mild GDD | 2/3 syndactyly | NA | PTEN |
7 | M | 2.0 | 11.6 | 2.6 | 49 | ASD | Moderate GDD, mild ID | Hypertelorism, epilepsya | MEG | PPP2R5D |
8 | M | 1.8 | 5.3 | 2.2 | 54 | Suspected ASD | Moderate GDD, mild ID | Hypertelorism, epilepsyb | MEG | PPP2R5D |
9 | M | 2.0 | 3.5 | 3.5 | 62 | ASD | Mild GDD with moderate language delay | Left lower limb hypertrophy with 2/3 syndactyly | MEG | PIK3CA |
10 | M | 2.6 | 6.0 | 3.4 | 68 | Â | Mild GDD | Frontal bossing | MEG | PTEN |
11 | M | 4.4 | 10.1 | 3.4 | 95 | ASD | Language delay | z-scores for height: 3.0; weight: 5.6 | Normal | Negative |
12 | M | 2.3 | 6.3 | 3.3 | 79 | ASD | Borderline delay with language delay | Left ptosis, scoliosis | Dilated cisterna magna, relative atrophy of the right cerebellar hemisphere | Negative |
13 | F | 9.8 | 10.3 | 3.1 | NA | ASD | Â | NA | Normal | Negative |
14 | F | 1.6 | 7.3 | 3.3 | 75 | Â | Borderline delay with language delay | Intra-cranial haemorrhage in the perinatal period | Aqueduct stenosis with hydrocephalus | Negative |
15 | F | 4.0 | 6.0 | 4.2 | 90* | ASD | Language delay | NA | NA | Negative |
16 | M | 2.2 | 23.4 | 3.2 | 71 | ASD | Borderline delay | NA | NA | Negative |
17 | M | 1.8 | 14.4 | 4.8 | 84 | ASD | Borderline delay | Epilepsyc | Normal | Negative |
18 | F | 2.4 | 6.2 | 2.2 | 78 | Â | Borderline delay | NA | NA | Negative |
19 | M | 2.0 | 19.8 | 2.1 | 50* | ASD | Moderate GDD, moderate ID | Epilepsyd | NA | Negative |
20 | M | 2.0 | 2.3 | 2.8 | 67 | Â | Mild GDD | NA | Dilated ventricles with external hydrocephalus | Negative |
21 | M | 2.4 | 10.8 | 3.0 | 72 | Â | Mild GDD | Cleft lip and palate, nasal deformity | Normal | Negative |