| Proband | Sibling | Baynam 1 | Baynam 2 | Baynam 3 |
---|---|---|---|---|---|
Lgab | + | + | - | + | + |
Postnatal height/weight | Normal | Normal | Normal | Normal | Unknown |
Macrocephaly | +5SD | +5SD | >+3SD | >+3SD | >+3SD |
MRI | Megalencephaly | Megalencephaly | Mild ventricular prominence | Megalencephaly | Unknown |
Hypogenesis of corpus callosum | Perisylvian polymicrogyria, | ||||
Small pons & medulla | Hypogenesis of corpus callosum | ||||
Gray matter heterotopia | |||||
Intellectual disability | Mild disability/autism | Moderate disability/autism | Hyperactive/speech delay | Marked global delay | Marked global delay |
Seizures | - | - | + | + | + |
Eye | Iris coloboma | Iris coloboma | - | - | - |
Noonan-like face | - | - | + | + | + |
Small chest/large abdomen | - | - | + | + | + |