Case 1 F | Birth | 9 y/stood with support (4 y) | Negative | Negative | Negative | 7121 (1/12) | Marked neonatal hypotonia | Yes | Normal intellect No seizures | “Typical” white matter changes |
Case 2 F | Birth | 5 y/sat unsupported (3 y) | ↓ | ↓ | ↓ amount N size | 2009 (11/12) | Marked neonatal hypotonia | Yes | Focal seizures Moderate intellectual delay | “Typical” white matter changes |
Case 3 M | 4 y | 7 y/walked (18 mth) | Negative | Negative | Negative | 3554 (4 y) | Asymmetrical limb-girdle weakness | Yes | Normal intellect No seizures | “Typical” white matter changes1-150 |
Case 4 F | Presented at 2 y | 6 y/walked (2 y) | + | Insufficient muscle | Negative | 2500 (2 y) | Limb-girdle weakness | No | Normal intellect No seizures | “Typical” white matter changes |
Case 5 F | Presented at 2 y | 7 y/sat unsupported (18 mth) | ↓ | ↓↓ | ↓ amount N size | 3371 (18/12) | Generalised weakness and hypotonia | Yes | No seizures Severe intellectual delay | Focal cortical dysplasia Patchy increased white matter signals1-151
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