Table 1 Comparison of effects of variant type on clinical manifestations
From: A novel variant in NSUN2 causes intellectual disability in a Chinese family
| Â | Missense mutations | aLOF mutations |
|---|---|---|
Motor delay or disability | 5/5 | 14/14 |
Development of speech and language skills | 5/5 | 16/16 |
Nonverbal | 1/5 | 11/17 |
ID | 5/5 | 26/26 |
Moderate to profound | 2/5 | 8/25 |
Microcephaly | 3/3 | 23/23 |
Short stature | 4/4 | 21/24 |
Eye findings | 2/3 | 12/15 |
Facial dysmorphism | 5/5 | 26/26 |
Muscular hypertonia | 3/3 | 16/22 |
Brain radiologic features | NR | 8/15 |
Feeding issues | NR | 6/10 |
Delayed puberty | 1/3 | 7/7 |
Seizures | 0/3 | 6/24 |
Skeletal or limb abnormalities | 3/3 | 4/23 |
Hearing impairment | 0/3 | 5/18 |