Table 1.
Clinical features found in patients with SNIBCPS. HPO prioritization frequency of clinical features described in patients with CHD3 variants. Percentage was calculated according to the total number of patients reported in the literature. Patients compiled from [1,2,3,4,5,6] (63 patients) and the 20 patients reported herein.
| Frequency | Snijders Blok–Campeau Patients | Drivas et al., 2020 | Mizukami et al., 2021 | Xi-Yong, 2021 | Coursimault et al., 2021 | Snijders Blok et al., 2018 | LeBreton et al., 2022 | This Study (n = 20) | Total (n = 83) | Percentage (%) |
|---|---|---|---|---|---|---|---|---|---|---|
| HP:0001263 Global developmental delay | 24 | 1 | 1 | 35 | 1 | 19 | 81 | 98% | ||
| >75% | HP:0002167 Speech disorder/delay | 24 | 1 | 1 | 1 | 33 | 1 | 15 | 76 | 92% |
| HP:0001249 Intellectual disability | 20 | 1 | 1 | 1 | 27 | 11 | 61 | 73% | ||
| HP:0001252 Hypotonia | 22 | 1 | 1 | 1 | 21 | 13 | 59 | 71% | ||
| HP:0000316 Hypertelorism | 13 | 1 | 1 | 24 | 13 | 52 | 63% | |||
| 51–74% | HP:0000504 Abnormality of vision | 18 | 1 | 1 | 23 | 3 | 46 | 55% | ||
| HP:0000256 Macrocephaly | 10 | 1 | 1 | 19 | 15 | 46 | 55% | |||
| HP:0000244 Prominent forehead | 1 | 28 | 14 | 43 | 52% | |||||
| HP:0002011 Abnormality of CNS | 9 | 1 | 16 | 9 | 35 | 42% | ||||
| HP:0002007 Frontal bossing | 13 | 11 | 1 | 10 | 35 | 42% | ||||
| HP:0000307 Pointed chin | 12 | 1 | 1 | 13 | 27 | 33% | ||||
| HP:0000431 Wide nasal bridge | 17 | 1 | 8 | 26 | 31% | |||||
| 26–50% | HP:0000219 Thin upper lips | 17 | 9 | 26 | 31% | |||||
| HP:0001388 Joint laxity | 1 | 1 | 1 | 12 | 10 | 25 | 30% | |||
| HP:0000717 Autism spectrum disorder | 9 | 1 | 1 | 9 | 1 | 2 | 23 | 28% | ||
| HP:0000486 Strabismus | 6 | 1 | 1 | 1 | 10 | 4 | 23 | 28% | ||
| HP:0000293 Full cheeks | 13 | 1 | 8 | 22 | 27% | |||||
| HP:0005338 Sparse lateral eyebrow | 12 | 1 | 1 | 5 | 19 | 23% | ||||
| HP:0001270 Motor delay | 1 | 1 | 17 | 19 | 23% | |||||
| HP:0000369 Low-set ears | 8 | 1 | 1 | 1 | 1 | 5 | 17 | 20% | ||
| HP:0000490 Deep-set eyes | 13 | 1 | 2 | 16 | 19% | |||||
| HP:0031936 Delayed walking | 16 | 16 | 19% | |||||||
| HP:0045025 Narrow palpebral fissure | 10 | 1 | 1 | 3 | 15 | 18% | ||||
| HP:0000506 Telecanthus | 10 | 1 | 1 | 1 | 13 | 16% | ||||
| HP:0000448 Prominent nose | 6 | 1 | 1 | 4 | 12 | 14% | ||||
| HP:0012371 Mid-face hypoplasia | 9 | 1 | 2 | 12 | 14% | |||||
| HP:0001388 Abnormality of the male genitalia | 1 | 6 | 5 | 12 | 14% | |||||
| HP:0001627 Congenital heart defects | 5 | 3 | 3 | 11 | 13% | |||||
| HP:0001250 Seizures | 5 | 4 | 2 | 11 | 13% | |||||
| HP:0008872 Feeding difficulties in infancy | 10 | 1 | 11 | 13% | ||||||
| HP:0000358 Posteriorly rotated ears | 9 | 1 | 10 | 12% | ||||||
| HP:0000337 Broad forehead | 10 | 10 | 12% | |||||||
| HP:0000286 Epicanthus | 10 | 10 | 12% | |||||||
| HP:0006349 Absent teeth | 5 | 2 | 1 | 8 | 10% | |||||
| HP:0007018 Attention deficit hyperactivity disorder | 1 | 7 | 8% | |||||||
| HP:0100790 Hernia | 5 | 6 | 6 | 7% | ||||||
| <25% | HP:0000455 Broad nasal tip | 6 | 1 | 6 | 7% | |||||
| HP:0000164 Dental abnormalities | 1 | 5 | 6 | 7% | ||||||
| HP:0000733 Stereotypic behavior | 1 | 4 | 5 | 6% | ||||||
| HP:0000218 High palate | 5 | 5 | 6% | |||||||
| HP:0001760 Foot deformities | 4 | 4 | 5% | |||||||
| HP:0002119 Ventriculomegaly | 1 | 3 | 4 | 5% | ||||||
| HP:0005280 Depressed nasal root | 4 | 4 | 5% | |||||||
| HP:0001041 Blushed cheeks | 3 | 3 | 4% | |||||||
| HP:0000365 Hearing impairment | 3 | 3 | 4% | |||||||
| HP:0001260 Dysarthria | 3 | 3 | 4% | |||||||
| HP:0000252 Microcephaly | 2 | 1 | 3 | 4% | ||||||
| HP:0002317 Unsteady gait | 2 | 2 | 2% | |||||||
| HP:0000957 Cafe-au-lait spot /HP:0007565 Multiple cafe-au-lait spots | 2 | 2 | 2% | |||||||
| HP:0045025 Narrow palpebral fissure | 10 | 3 | 2 | 2% | ||||||
| HP:0040082 Happy demeanor | 1 | 1 | 2 | 2% | ||||||
| HP:0000753 Autism with high cognitive abilities | 1 | 1 | 1% | |||||||
| HP:0000077 Abnormality of the kidney | 1 | 1 | 1% | |||||||
| HP:0000664 Synophris | 1 | 1 | 1% | |||||||
| HP:0000322 Short philtrum | 1 | 1 | 1% | |||||||
| HP:0000160 Narrow mouth | 1 | 1 | 1% | |||||||
| HP:0004442 Sagittal craniosynostosis | 1 | 1 | 1% | |||||||
| HP:0001047 Pes planus | 1 | 1 | 1% | |||||||
| HP:0001047 Atopic dermatitis | 1 | 1 | 1% | |||||||
| HP:0045074 Thin eyebrow | 1 | 1 | 1% |