TABLE 1.
Clinical features of patients in this study and the literature. (See Supplementary Table S1 for detailed clinical information).
| Clinical features | The proband | Older sister | Percent of patients displaying the feature | |
|---|---|---|---|---|
| Gender | M | F | M (18) | F (18) |
| Diagnosis age | 3.5y | 8y | − | − |
| Craniofacial Features | + | + | 18/18 | 18/18 |
| MRI(cerebellar atrophy) | + | NA | 17/18 | 16/16 |
| Neurodevelopment | ||||
| Intellectual disability | + | + | 18/18 | 18/18 |
| Delayed or absent language | + | + | 17/17 | 18/18 |
| Hypertonia | − | − | 2/18 | 3/18 |
| Hypotonia | + | + | 14/18 | 14/18 |
| Delayed fine/gross motor | − | + | 17/17 | 18/18 |
| Ataxia | + | + | 11/16 | 14/18 |
| Others | ||||
| Hearing loss | − | − | 5/18 | 8/18 |
| Elbow motion limitation | − | − | 4/18 | 7/17 |
| Scoliosis/kyphosis/clinodactyly/Talipes equino-varum | − | + | 8/17 | 11/16 |
| Walking with help (age, months) | − | 7y | − | − |
+, positive, represents the appearance of the phenotype.
−, negative, no obvious abnormal phenotype was observed.
F, female; M, male.
NA, not applicable.