Table 1.
Summary of Phenotypes
| Phenotype | Number of individuals with phenotype | Number of individuals with relevant data | Percentage |
|---|---|---|---|
| Brain Structure and Function | |||
| Intellectual disability (ID)a | 23 | 23 | 100 |
| ASD, ADHD, or behavioral issues | 30 | 33 | 91 |
| Abnormal brain MRI | 2 | 11 | 18 |
| Speech delay | 32 | 33 | 97 |
| Seizures | 6 | 26 | 23 |
| Motor Impairments | |||
| Motor delay and related abnormalities | 31 | 32 | 97 |
| Muscle tone issues | 7 | 18 | 39 |
| Feeding difficulties | 8 | 14 | 57 |
| Cardiovascular | |||
| Congenital cardiac defects | 4 | 19 | 21 |
| Major vessel anomalies | 2 | 19 | 11 |
| Arrhythmias | 1 | 19 | 5 |
| Hypertension | 1 | 19 | 5 |
| Other | |||
| Mild dysmorphism | 18 | 28 | 64 |
| Skeletal or connective-tissue defects | 8 | 20 | 40 |
a
In individuals > 5 years of age, when IQ testing or other cognitive testing was performed.