| Phenotype details |
see paper; ..., global developmental delay (HP:0001263), hypotonia (HP:0001252), intellectual disability (HP:0001249), early onset hypotonia (HP:0008947), attention deficit hyperactivity disorder (HP:0007018), hypsarrhythmia by eeg (HP:0002521), vocal tics (HP:0100035), motor tics (HP:0100034), anxiety disorder (HP:0100852) |