TABLE 1.
A concise review of the phenotypes of the reported OCNDS patients.
| ID | Variants | Sex | Age at diagnosis (years) | Developmental delay | Language deficits | Dysmorphic facial features | Intellectual disability | Behavioral issues | Eating disorders | Musculoskeletal disorders | Microcephaly | Abnormal brain MRI | Hypotonia | Seizures | Herniation | Inheritance pattern | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | p.R47Q | F | 6 | Yes | Yes | Yes | Yes | Yes | No | No | Yes | Yes | Yes | No | Yes | de novo | Okur et al. |
| 2 | p.K198R | F | 4.5 | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No | No | de novo | Okur et al. |
| 3 | p.D175G | F | 4 | Yes | Yes | Yes | Yes | Yes | No | No | Yes | Yes | No | Yes | No | de novo | Okur et al. |
| 4 | c.824 + 2 T > C | F | 13 | Yes | No | No | Yes | Yes | Yes | Yes | No | No | Yes | No | Yes | de novo | Okur et al. |
| 5 | p.Y50S | F | 2 | Yes | No | Yes | NA | No | Yes | Yes | Yes | No | Yes | Yes | No | de novo | Okur et al. |
| 6 | p.K198R | M | 5 | Yes | Yes | Yes | No | No | No | No | No | NA | No | No | No | de novo | Chiu et al. |
| 7 | p.E27K | M | 14 | Yes | No | No | Yes | Yes | Yes | Yes | No | No | Yes | No | Yes | de novo | Chiu et al. |
| 8 | p.M1V | F | 2.5 | Yes | Yes | Yes | No | Yes | No | Yes | No | No | No | No | No | de novo | Chiu et al. |
| 9 | p.P231R | M | 4 | Yes | Yes | Yes | No | Yes | Yes | No | Yes | NA | Yes | No | No | de novo | Chiu et al. |
| 10 | p.V73E | M | 8 | Yes | Yes | No | No | No | Yes | No | Yes | No | No | No | No | de novo | Chiu et al. |
| 11 | p.R47Q | F | 8 | Yes | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Yes | Yes | No | de novo | Chiu et al. |
| 12 | p.R312Q | M | 14 | Yes | Yes | Yes | No | No | No | No | No | NA | No | No | No | de novo | Chiu et al. |
| 13 | p.S51R | M | 4 | Yes | Yes | Yes | No | Yes | Yes | Yes | No | NA | Yes | Yes | No | de novo | Chiu et al. |
| 14 | p.R47Q | M | 6.1 | Yes | Yes | Yes | Yes | No | Yes | Yes | No | No | No | No | Yes | de novo | Owen et al. |
| 15 | p.S51N | F | 11.1 | Yes | Yes | Yes | Yes | No | No | Yes | No | NA | No | No | No | de novo | Owen et al. |
| 16 | p.R80H | M | 10.7 | Yes | Yes | Yes | Yes | Yes | No | Yes | No | No | Yes | No | No | de novo | Owen et al. |
| 17 | p.I174M | M | 10.9 | Yes | Yes | No | Yes | Yes | Yes | No | No | NA | Yes | No | No | de novo | Owen et al. |
| 18 | p.R191Q | F | 10 | Yes | Yes | No | Yes | Yes | Yes | No | Yes | NA | Yes | No | No | de novo | Owen et al. |
| 19 | p.F197I | F | 8 | Yes | Yes | Yes | Yes | No | No | No | No | No | No | No | No | de novo | Owen et al. |
| 20 | p.K198R | F | 7.3 | Yes | Yes | Yes | Yes | Yes | No | No | No | No | Yes | Yes | No | de novo | Owen et al. |
| 21 | p.R312W | M | 10.9 | Yes | Yes | No | Yes | No | No | No | Yes | No | No | No | No | de novo | Owen et al. |
| 22 | p.K198R | M | 18.3 | Yes | NA | Yes | Yes | No | No | No | No | NA | Yes | Yes | No | de novo | Owen et al. |
| 23 | p.K198R | F | 18.7 | Yes | Yes | No | Yes | No | No | No | Yes | Yes | Yes | No | No | de novo | Owen et al. |
| 24 | p.R312W | F | 6 | Yes | No | Yes | Yes | Yes | No | Yes | No | NA | Yes | No | No | de novo | Owen et al. |
| 25 | p.K198R | F | 15 | Yes | Yes | Yes | Yes | No | Yes | Yes | No | Yes | Yes | Yes | No | de novo | Nakashima et al. |
| 26 | p.R191* | M | 1.7 | Yes | No | No | NA | NA | NA | No | Yes | No | Yes | Yes | No | de novo | Nakashima et al. |
| 27 | p.D156H | M | 7 | Yes | Yes | Yes | Yes | Yes | No | No | Yes | Yes | No | No | No | de novo | Trinh et al. |
| 28 | c.1061‐1G > C | M | 1 | Yes | No | No | No | Yes | No | No | No | Yes | Yes | No | No | de novo | Colavito et al. |
| 29 | p.K198R | M | 8 | Yes | Yes | Yes | Yes | Yes | No | No | No | Yes | Yes | No | No | de novo | Akahira‐Azuma et al. |
| 30 | p.Y50C | F | 5.8 | Yes | Yes | Yes | No | Yes | Yes | No | No | Yes | No | No | No | de novo | Martinez‐Monseny et al. |
| 31 | p.K198R | M | 6 | Yes | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | No | No | No | AD | Xu et al. |
| 32 | p.D175G | M | 1 | Yes | No | Yes | No | No | Yes | Yes | No | No | Yes | No | No | de novo | Duan et al. |
| 33 | p.Y50C | M | 8 | Yes | NA | Yes | Yes | NA | Yes | No | No | Yes | No | Yes | No | de novo | Wu et al. |
| 34 | p.R21Q | F | 8 | Yes | Yes | Yes | Yes | Yes | No | Yes | No | No | Yes | Yes | No | de novo | Khamirani et al. |
| 35 | p.R80C | F | 2 | Yes | Yes | Yes | Yes | NA | No | Yes | Yes | Yes | No | No | No | de novo | Wu et al. |
| 36 | p.H160R | F | 3 | Yes | No | Yes | Yes | No | No | Yes | No | Yes | No | Yes | No | de novo | Wu et al. |
| 37 | p.R107* | M | 5 | Yes | No | Yes | No | Yes | No | No | No | No | No | No | No | de novo | Murakami et al. |
| 38 | p.K198R | F | NA | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | NA | Yes | No | NA | AD | Belnap et al. |
| 39 | p.K198R | F | NA | Yes | Yes | Yes | Yes | Yes | No | No | No | NA | Yes | No | NA | AD | Belnap et al. |
| 40 | p.K198R | F | NA | Yes | Yes | No | Yes | No | No | Yes | NA | NA | NA | Yes | NA | AD | Belnap et al. |
| 41 | p.K198R | F | NA | Yes | Yes | Yes | Yes | No | Yes | Yes | No | NA | No | No | NA | AD | Belnap et al. |
| 42 | p.K198R | M | NA | Yes | Yes | Yes | Yes | No | No | No | No | NA | No | No | NA | AD | Belnap et al. |
| 43 | p.E27K | M | NA | Yes | Yes | No | Yes | Yes | Yes | Yes | NA | NA | No | No | NA | AD | Belnap et al. |
| 44 | p.E27K | M | NA | Yes | Yes | Yes | Yes | Yes | No | Yes | Yes | NA | Yes | No | NA | AD | Belnap et al. |
| 45 | p.E27K | F | NA | Yes | NA | No | Yes | Yes | NA | Yes | NA | NA | NA | No | NA | AD | Belnap et al. |
| 46 | p.G48S | M | 7 | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | No | No | No | No | de novo | Wafik et al. |
| 47 | p.H29Cfs*9 | F | 9 | Yes | No | No | No | No | No | No | No | No | No | Yes | No | de novo | Wafik et al. |
| 48 | p.Y323Lfs*16 | F | 31 | NA | Yes | Yes | Yes | Yes | Yes | Yes | No | No | No | Yes | No | AD | Present study |
| 49 | p.Y323Lfs*16 | F | 57 | NA | No | No | No | No | No | No | No | NA | No | No | Yes | AD | Present study |
Note: CSNK2A1 GenBank version number: NM_177559.3.
Abbreviations: AD: autosomal dominant; F, female; M, male; NA, not available.