Table 1.
Clinical Features of Affected Individuals with De Novo CDK19 Variants
| Proband | Proband 1 | Proband 2 | Proband 3 |
|---|---|---|---|
| CDK19 variant | de novo, c.586A>G (p.Thr196Ala) | de novo, c.586A > G (p.Thr196Ala) | de novo, c.94T > C (p.Tyr32His) |
| Sex | female | male | male |
| Age | 25 years | 2 years | 1 year |
| Global developmental delay | yes | yes | yes |
| Epilepsy | yes | yes/infantile spasms | yes/infantile spasms |
| Hypotonia | yes | yes | yes |
| Intellectual disability | yes | not applicable | not applicable |
| Dysmorphic features | yes | yes | yes |
| Scoliosis | yes | no | no |
| Brain MRI | borderline microcephaly | mild atrophy | delayed myelination |
| Other findings | autism, ataxia, short stature |
not applicable | small calculus at both kidneys |