Table 3.
Unusual phenotypes identified in the course of this study
| Phenotypic expansions | ||||||
|---|---|---|---|---|---|---|
| Patient | Gender | Age at enrollment | Test result | Diagnosis | Additional features | Literature |
| 3 | F | 3 weeks | HIBCH: c.852delS (p.L284 FfsX10)/c.488G>T (p.C163F) | HIBCH deficiency | Severe clinical course with recurring apnea | Loupatty et al.28 |
| 14 | M | 6 weeks | SCN2A: c.4919T>A (p.I1640N) | SCN2A-related disorder | Polymicrogyria | - |
| 28 | F | 2 months | POMGNT2: homozygous c.1234G>A (p.G412R) | Walker-Warburg syndrome | Cardiac defect, bilateral cataracts | Manzini et al.34 |
| 40 | F | 3 weeks | MCCC1: c.1155A>C (p.R385A)IMCCC2: (c.463C>T (p.R155W) | 3-methylcrotonyl-CoA carboxylase deficiency | Double carrier 3-MCC with biochemical phenotype | - |
| 47 | F | 6 months | AHI1: homozygous c.2755G>A (p.D919N) | AHI1-related disorder (ciliopathy) | No molar tooth, cardiac defect | Valente et al.35 |
| Earliest onset | ||||||
| Patient | Gender | Age at enrollment | Test result | Diagnosis | Typical age at presentation | Literature |
| 3 | F | 3 weeks | HIBCH: c.852delS (p.L284 FfsX10)/c.488G>T (p.C163F) | HIBCH deficiency | 3–7 months | Loupatty et al.28 |
| 9 | F | 7 days | PACS1: c.607C>T (p.R203W) | PACS1 related disorder | Late infancy | Schuurs-Hoeijmakers et al.36 |
| 21 | M | 5 days | Deletion Xq26.3(133605263_134910134) | Lesch-Nyhan syndrome | 3–6 months | Liu et al.37 |
| 38 | F | 5 days | IFT80: C.869A >G (p.N290S)/c.1936G >C (p.V646L) | Short-rib thoracic dysplasia 2/ciliopathy | Embryonic lethal in severe form, early childhood in ciliopathy phenotype | Moran et al.21 Bizaoui et al.22 |
| 39 | M | 5 days | IFT80: C.869A >G (p.N290S)/c.1936G>C (p.V646L) | |||