Table 1.
A concise review of the phenotypes of the reported OCNDS patients
| ID | Sex | Age, years | Variants | DD | Language DD | Dysmorphic facial features | ID | Hypotonia | Behavioral issues | Eating disorders | Musculoskeletal disorders | Microcephaly | Sleep disorders | Abnormal brain MRI | Seizures | Herniation | GERD | History of recurrent infections | References |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Subj. 1 | F | 8 | p.(R21Q) | + | + | + | + | + | + | – | + | – | + | – | + | – | – | – | Present case |
|
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| Subj. 1 | F | 6 | p.(R47Q) | + | + | + | + | + | + | – | – | + | – | + | – | + | – | N/A | Okur et al. [2016] |
| Subj. 2 | F | 4.5 | p.(K198R) | + | + | + | + | + | + | + | + | + | – | + | – | – | + | N/A | |
| Subj. 3 | F | 4 | p.(D175G) | + | + | + | + | – | + | – | – | + | + | + | + | – | – | N/A | |
| Subj. 4 | F | 13 | c.824+2T>C | + | – | – | + | + | + | + | + | – | + | – | – | + | – | N/A | |
| Subj. 5 | F | 2 | p.(Y50S) | + | – | + | Ν/Α | + | – | + | + | + | – | – | + | – | – | + | |
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| Subj. 1 | M | 5 | p.(K198R) | + | + | + | – | – | – | – | – | – | – | N/A | – | – | – | – | Chiu et al. [2018] |
| Subj. 2 | M | 4 | p.(E27K) | + | + | + | – | + | + | + | – | + | + | N/A | – | – | – | – | |
| Subj. 3 | M | 14 | p.(M1V) | + | – | – | + | + | + | + | + | – | + | – | – | + | – | + | |
| Subj. 4 | F | 2.5 | p.(P231R) | + | + | + | – | – | + | – | + | – | – | – | – | – | – | – | |
| Subj. 5 | M | 8 | p.(V73E) | + | + | – | – | – | – | + | – | + | + | – | – | – | + | – | |
| Subj. 6 | F | 8 | p.(R47Q) | + | + | + | – | + | – | + | + | + | + | + | + | – | – | – | |
| Subj. 7 | M | 14 | p.(R312Q) | + | + | + | – | – | – | – | – | – | – | N/A | – | – | – | – | |
| Subj. 8 | M | 4 | p.(S51R) | + | + | + | – | + | + | + | + | – | + | N/A | + | – | – | + | |
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| Subj. 1 | M | 6.1 | p.(R47Q) | + | + | + | + | – | – | + | + | – | N/A | – | – | + | + | N/A | Owen et al. [2018] |
| Subj. 2 | F | 11.1 | p.(S51N) | + | + | + | + | – | – | – | + | – | N/A | N/A | – | – | – | N/A | |
| Subj. 3 | M | 10.7 | p.(R80H) | + | + | + | + | + | + | – | + | – | N/A | – | – | – | – | N/A | |
| Subj. 4 | M | 10.9 | p.(H74M) | + | + | – | + | + | + | + | – | – | N/A | N/A | – | – | – | N/A | |
| Subj. 5 | F | 10.0 | p.(R191Q) | + | + | – | + | + | + | + | – | + | N/A | N/A | – | – | – | N/A | |
| Subj. 6 | F | 8.0 | p.(F197l) | + | + | + | + | – | – | – | – | – | N/A | – | – | – | – | N/A | |
| Subj. 7 | F | 7.3 | p.(K198R) | + | + | + | + | + | + | – | – | – | N/A | – | + | – | – | N/A | |
| Subj. 8 | M | 10.9 | p.(R312W) | + | + | – | + | – | – | – | – | + | N/A | – | – | – | – | N/A | |
| Subj. 9 | M | 18.3 | p.(K198R) | + | N/A | + | + | + | – | – | – | – | N/A | N/A | + | – | – | N/A | |
| Subj. 10 | F | 18.7 | p.(K198R) | + | + | – | + | + | – | – | – | + | N/A | + | – | – | – | N/A | |
| Subj. 11 | F | 6.0 | p.(R312W) | + | – | + | + | + | + | – | + | – | N/A | N/A | – | – | – | N/A | |
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| Subj. 1 | F | 15 | p.(K198R) | + | + | + | + | + | – | + | + | – | + | + | + | – | – | – | Nakashima et al. [2019] |
| Subj. 2 | M | 1.7 | p.(R191*) | + | – | – | Ν/Α | + | Ν/Α | Ν/Α | – | + | N/A | – | + | – | – | – | |
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| Subj. 1 | M | 7 | p.(D156H) | + | + | + | + | – | + | – | – | + | + | + | – | – | – | – | Trinh et al. [2017] |
| Subj. 1 | M | 1 | c.1061-1G>C | + | – | – | – | + | + | – | – | – | + | + | – | – | – | – | Colavito et al. [2018] |
| Subj. 1 | M | 8 | p.(K198R) | + | + | + | + | + | + | – | – | – | – | + | – | – | – | – | Akahira-Azuma et al. [2018] |
| Subj. 1 | F | 5.8 | p.(Y50C) | + | + | + | – | – | + | + | – | – | – | + | – | – | – | – | Martinez-Monseny et al. [2020] |
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| Total | 31/31 | 24/31 | 23/31 | 20/31 | 20/31 | 19/31 | 13/31 | 13/31 | 12/31 | 11/31 | 10/31 | 9/31 | 4/31 | 3/31 | 3/31 | ||||
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| M | 6 | p.(K198R) | + | + | + | + | – | + | + | – | + | – | + | – | – | – | – | Xu et al. [2020]a | |
| M | 1 | p.(D175G) | + | – | + | – | + | – | + | + | – | + | – | – | – | – | – | Duan et al. [2019]b | |
| M | 8 | p.(Y50C) | + | Ν/Α | Ν/Α | + | Ν/Α | Ν/Α | Ν/Α | Ν/Α | Ν/Α | N/A | N/A | N/A | N/A | N/A | N/A | Wu et al. [2020]b | |
a
The patient was diagnosed with both tricho-rhino-phalangeal syndrome type I and OCNDS.
b
The full text is not available in English. Cases marked by a and b were not included in the evaluation of the total prevalence of the features. DD, developmental delay; ID, intellectual disability; OCNDS, Okur-Chung neurodevelopmental syndrome; Subj, subject; N/A, not available; GERD, gastroesophageal reflux disease.