Clinical Features | MBD5-specific mutation20,22–24 | 2q23.1 Deletion20,22–24 | Case in this study | ||
---|---|---|---|---|---|
 | Number | Percentage | Number | Percentage | +, present; - absent |
Neurological | Â | Â | Â | Â | Â |
 Development delay | 20/21 | 95% | 53/55 | 96% | + |
 Language impairment | 12/21 | 57% | 38/55 | 69% | + |
 Seizure | 11/21 | 52% | 32/55 | 58% | + |
 Infantile spasms | 0/21 | 0 | 0/55 | 0 | + |
 Infantile hypotonia | 4/21 | 19% | 23/55 | 41% | + |
Growth/Endocrine | Â | Â | Â | Â | Â |
 Short stature | 5/21 | 24% | 25/55 | 45% | - |
 Local hirsutism | 0/21 | 0 | 4/55 | 7% | - |
Craniofacial abnormalities | Â | Â | Â | Â | Â |
 Coarse face | 0/21 | 0 | 3/55 | 5% | + |
 Broad forehead | 3/21 | 14% | 4/55 | 7% | + |
 Microcephaly | 1/21 | 5% | 26/55 | 47% | +(<2SD) |
 Synophrys | 2/21 | 9% | 10/55 | 18% | +mild |
 Nasal abnormalities | 7/21 | 33% | 35/55 | 64% | + |
 Open mouth | 3/21 | 14% | 23/55 | 42% | + |
 Downturned corners of the mouth | 3/21 | 14% | 17/55 | 31% | + |
 Macroglossia or protruding tongue | 2/21 | 9% | 6/55 | 11% | - |
 Dental abnormalities | 4/21 | 19% | 13/55 | 24% |  |
Skeletal abnormalities | Â | Â | Â | Â | + |
 Small hands and feet | 1/21 | 5% | 23/55 | 42% | + |
 Clinodactyly, 5th finger | 2/21 | 9% | 22/55 | 40% | + |
 Brachydactyly | 0/21 | 0 | 13/55 | 24% | + |
 Short fifth digit of hands/feet | 1/21 | 5% | 14/55 | 25% | + |
 Absent hallux | 0/21 | 0 | 0/55 | 0 | + |
Behaviors | Â | Â | Â | Â | - |
 Autistic feature | 13/21 | 62% | 44/55 | 80% | + |
 Sleep disturbance | 5/21 | 24% | 17/55 | 31% | ND |
 Self-injurious behavior | 2/21 | 9% | 17/55 | 31% | + |
Other | Â | Â | Â | Â | - |
 Cardiovascular abnormalities | 1/21 | 5% | 4/55 | 7% | - |
 Urogenital abnormalities | 1/21 | 45% | 1/55 | 2% | - |