1 | | Del 1 | | MLPA | | Yes | | 54:46 | | 14 | | Atypical | | Abnormal MRI | | Hypoplastic cerebellum and cerebellar vermis | | 9 | | No | | Grasp briefly | | No | | Mild | | <3rd |
2 | | Del 1–2 | | MLPA | | No | | 65:35 | | 4.2 | | Classic | | | | | | 3 | | Yes | | Finger feeds | | No | | No | | 2nd–9th |
3 | | Del 1–2 | | QF-PCR | | NK | | 57:43 | | 45 | | Classic | | | | | | 6 | | With support | | Finger feeds | | No | | Moderate | | 50th |
4 | | Del 1–2 | | MLPA | | No | | 80:20 | | 16.0 | | Classic | | | | | | 9 | | No | | None | | No | | Severe | | <3rd |
5 | | Del 3–4.1 | | QF-PCR | | NK | | 67:33 | | 4.3 | | Classic | | | | | | 5 | | No | | None | | No | | No | | 2nd |
6 | | Del 3–4.1 | | QF-PCR | | NK | | 58:42 | | 12.9 | | Atypical | | Epileptic seizure onset before regression | | | | 10 | | No | | Grasp briefly | | No | | Severe | | <0.4th |
7 | | Del 3–4.1 | | QF-PCR | | NK | | 75:25 | | 5.2 | | Classic | | | | Developmental dysplasia of the hip (DDH) | | 3 | | Yes | | None | | No | | Mild | | <0.4th |
8 | | Del 3–4 | | Real time PCR | | No | | 90:10 | | 20.3 | | Classic | | | | | | 5 | | With support | | None | | No | | Moderate | | 0.4th–2nd |
9 | | Del 3–4 | | Real time PCR | | No | | 90:10 | | 14.6 | | Classic | | | | | | 3 | | Yes | | None | | No | | Mild | | 9th |
10 | | Del 3–4 | | Real time PCR | | No | | 60:40 | | 21.4 | | Classic | | | | | | 4 | | No | | None | | No | | Mild | | 0.4th–2nd |
11 | | Del 3–4.3 | | QF-PCR MLPA | | Yes | | 57:43 | | 10 | | Classic | | | | | | 6 | | No | | None | | No | | Mild | | 0.4th–2nd |
12 | | Del 3–4.3 | | QF-PCR MLPA | | Yes | | 61:39 | | 7 | | Classic | | | | | | 6 | | No | | Grasp briefly | | No | | Moderate | | <0.4th |
13 | | Del 3–4.3 | | MLPA | | No | | NP | | 19.2 | | Classic | | | | | | 5 | | With support | | None | | No | | Mild | | <3rd |
14 | | Del 3–4.3 | | MLPA | | No | | 56:44 | | 15.0 | | Classic | | | | | | 7 | | No | | None | | No | | Mild | | 0.4th–2nd |
15 | | Del 3–4.3 | | MLPA | | Yes | | NP | | 6.5 | | Classic | | | | | | 3 | | Yes | | None | | Possibly | | Mild | | 2nd–9th |
16 | | Del 4.1–4.3 | | MLPA | | No | | 67:33 | | 12.3 | | Atypical | | Preserved head growth | | | | 6 | | No | | None | | No | | Moderate | | 50th |
17 | | Del 4 | | Real time PCR | | Yes | | 70:30 | | 4.6 | | Classic | | | | | | 3 | | Yes | | Grasp briefly | | No | | Moderate | | 50th |
18 | | Del 4.2 | | MLPA | | No | | 58:42 | | 4.6 | | Classic | | | | Cleft palate | | 9 | | No | | Grasp briefly | | No | | Mild | | <0.4th |
19 | | Del 4.2–4.3 | | QF-PCR MLPA | | No | | NI | | 38.0 | | Classic | | | | Atretic right ear and absent auditory meatus | | 4 | | Yes | | Finger feeds | | No | | Moderate | | <0.4th |
20 | | Del 4.2–4.4 | | QF-PCR MLPA | | No | | 85:15 | | 4.4 | | Atypical | | Multiple congenital anomalies, very abnormal early development | | Transposition great arteries, right choanal stenosis, laryngeal web, cleft palate | | 8 | | No | | None | | No | | Moderate | | <0.4th |
21 | | Del 4.3 | | MLPA | | No | | 58:42 | | 14.3 | | Classic | | | | | | * | | Yes | | NK | | No | | NK | | <3rd |
22 | | Del 4.3 | | QF-PCR MLPA | | No | | NP | | 12.4 | | Classic | | | | | | 8 | | No | | Grasp briefly | | No | | Severe | | <0.4th |