From: Genomic imbalances defining novel intellectual disability associated loci
Pathogenic + Likely pathogenic (n = 23) | Polymorphic CNVs (n = 134) |
---|---|
Gender | Gender |
 Males 15 (65%) | Males 84 (63%) |
 Females 8 (35%) | Females 50 (37%) |
ID | ID |
 Syndromic 19 (83%) | Syndromic 74 (55%) |
 Non-syndromic 4 (17%) | Non-syndromic 60 (45%) |
 Borderline 1 (4%) | Borderline 8 (6%) |
 Mild 15 (65%) | Mild 75 (56%) |
 Moderate 6 (26%) | Moderate 30 (22%) |
 Severe 0 (0%) | Severe 15 (11%) |
 Profound 1 (4%) | Profound 6 (4%) |
History | History |
 Sporadic 11 (48%) | Sporadic 54 (40%) |
 Family history of ID 15 (65%) | Family history of ID 80 (60%) |
Co-morbidities | Co-morbidities |
 Congenital anomalies 11 (48%) | Congenital anomalies 64 (48%) |
 Epilepsy 2 (9%) | Epilepsy 19 (14%) |
 Microcephaly 4 (17%) | Microcephaly 23 (17%) |
 Macrocephaly 1 (4%) | Macrocephaly 13 (10%) |