A1234 | A1234 | A3799 | A5627 | A5627 | A7671 | A7671 | A7671 | |
---|---|---|---|---|---|---|---|---|
Age | 14 | 19 | 53 | 31 | 31 | 20 | 16 | 4 |
Face | ||||||||
Macrostomia | + | + | + | + | + | + | + | + |
Mandibular prognathism | + | + | + | + | − | + | + | − |
Flat occiput | − | − | + | + | + | + | − | − |
Microcephaly | + | + | + | − | − | − | + | − |
Blue eyes | + | − | − | + | + | + | + | − |
Blonde hair | + | − | − | + | + | + | − | + |
Brachycephaly | + | + | + | − | − | + | + | + |
Strabismus | + | − | − | + | + | + | − | + |
Occipital groove | − | − | + | + | + | − | − | − |
Widely spaced teeth | − | − | No teeth | − | + | + | − | + |
Neurological findings | ||||||||
Developmental delay | + | + | + | + | + | + | + | + |
Raised flexed arms | + | + | + | + | + | + | + | + |
Ataxic puppet-like gait | + | + | + | + | + | + | + | + |
Limb hypertonia | + | + | + | + | + | + | + | + |
Hyperreflexia | + | + | − | + | + | + | + | − |
Tremor | + | + | − | − | − | + | + | − |
Epileptic seizures | + | + | + | − | − | + | + | − |
Scoliosis | − | + | + | + | + | + | − | − |
Truncal hypotonia | + | + | − | + | + | + | − | + |
Behaviour | ||||||||
Happy facial expression | + | + | + | + | + | + | + | + |
Absent speech (<3 words) | 5 words | 6 words | 4 words | + | + | 10 words | 6 words | 8 words |
Paroxysms of laughter | + | + | + | + | + | + | + | + |
Tongue protrusion | + | − | + | − | − | + | + | + |
Hyperactivity | + | + | − | + | + | + | + | + |
Specific EEG | + | + | + | + | − | + | − | + |