Table 1 Clinical characteristics in patients with GDD/ID
Clinical features | n (%) |
|---|---|
Gender | 189 patients |
Male | 98 (51%) |
Female | 91 (48%) |
Age | 189 patients |
< or = 5 years | 28 (14%) |
> 5 years | 161 (85%) |
CNVs | 189 patients |
Pathogenic | 33 (17.4%) |
Uniparental disomy | 2 (1%) |
VOUS | 18 (9.5%) |
Clinical features in patients with pathogenic CNVs | 33 patients |
Dysmorphic features | 27 (81%) |
Short stature | 2 (6%) |
Obesity | 6 (18%) |
GDD/ID | 33 (100%) |
Microcephaly | 1 (3%) |
Epilepsy | 4 (12%) |
Autism spectrum disorders | 1 (3%) |
Hypotonia | 1 (3%) |
Language delay | 3 (9%) |
Associated internal malformation | 7 (21%) |