| II-3 | II-4 | III-3 | III-4 | III-5 |
---|---|---|---|---|---|
Age at first assessment (months) | NA | NA | 36 | 36 | 60 |
Sex | F | M | M | M | F |
Microarraya | NS | NS | NS | NS | NS |
WGSb | Xq28, RAB39B, g.154,490,171C>A 3p26.3, CNTN6, g.1,443,180G>A | WT RAB39B WT CNTN6 | Xq28, RAB39B, g.154,490,171C>A 3p26.3, CNTN6, g.1,443,180G>A | Xq28, RAB39B, g.154,490,171C>A 3p26.3, CNTN6 g.1,443,180G>A | Xq28, RAB39B, g.154,490,171C>A WT CNTN6 |
Growth | |||||
 Head circumference (%ile) | NA | NA | 98th | 98th | 50th |
Neurodevelopment | |||||
 Full-scale IQ | 110 | 109 | 39 | 32 | 69 |
 Speech delay | NA | NA | + | + | + |
 ASD | − | − | + | + | + |
 Other neurodevelopmental | NA | NA | − | − | − |
Neurological | |||||
 Epilepsy | − | − | − | − | − |
 Parkinson | − | − | − | − | − |
 Other neurological | Tremor | NA | Tremor, bradykinesia, poor fine motor | Poor fine motor | − |
 Congenital | NA | NA | Syndactyly | Syndactyly, epicanthus, high-arched palate | Left epicanthus |
 Other medical | NA | NA | − | − | − |