Table 2 Clinical features in individuals with PHMDS
|  | PHMDS large Del (n = 11) | PHMDS Small Del/Mut (n = 11) |
|---|---|---|
Seizures | 6 (54.5%) | 7 (63.6%) |
Sleep problems | 7 (63.6%) | 8 (72.7%) |
Hypotonia | 6 (54.5%) | 4 (36.4%) |
ASD or autistic traits | 11 (100%) | 9 (81.8%) |
Other behavioral/mental disorders | 6 (54.5%) | 7 (63.6%) |
Gastrointestinal or kidney issues | 5 (45.4%) | 1 (9.1%) |
Abnormal thermoregulation | 4 (36.4%) | 1 (9.1%) |
Higher tolerance to pain | 5 (45.4%) | 1 (9.1%) |
Muscular/skeletal conditions | 4 (36.4%) | 0 |
Ventricular septal defect | 0 | 2 (18.2%) |