Table 1 Summary of main clinical features in our cohort of 62 patients
From: Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
Main clinical features | Number of cases |
|---|---|
Microcephaly | 62/62 (100%) |
Primary | 36/62 (58.1%) |
Secondary | 17/62 (27.4%) |
Unknown onset | 9/62 (14.5%) |
DDa | 58/61b (90.3%) |
Mild | 13/61 (21.3%) |
Mild to moderate | 8/61 (13.1%) |
Moderate | 12/61 (19.7%) |
Moderate to severe | 7/61 (11.5%) |
Severe | 15/61 (24.6%) |
Severity not determined | 3/61 (4.9%) |
IDa | 24/28c (85.7%) |
Mild | 7/28 (25%) |
Mild to moderate | 1/28 (3.6%) |
Moderate | 8/28 (28.6%) |
Moderate to severe | 5/28 (17.9%) |
Severe | 3/28 (10.7%) |
Abnormal cerebral MRId | 27/43 (62.8%) |
Epilepsy/seizures | 16/61 (26.2%) |
Ataxia or movement disorder | 15/61 (24.6%) |
Behavioral problems | 14/61 (23%) |
Strabismus | 6/61 (9.8%) |
Hearing problems | 6/61 (9.8%) |
Short stature | 20/61 (32.8%) |
Complex congenital heart defect | 4/61 (6.6%) |
