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. 2021 Jan 6;13:2. doi: 10.1186/s13148-020-00990-7

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%)