| Clinical observation | n/N | Percent | Suggested HPO term | Qualification |
|---|---:|---:|---|---|
| Seizures | 15/15 | 100% | Seizure — HP:0001250 | All reviewed patients; seizure types varied. (pqac-00000018, pqac-00000019) |
| Myoclonic jerks | 12/15 | 80% | — | Reported as a seizure subtype; no narrower HPO mapping assigned here. (pqac-00000018) |
| Abnormal EEG | 12/15 | 80% | — | Includes heterogeneous electroencephalographic abnormalities. (pqac-00000018) |
| Cognitive delay | 11/15 | 73% | Intellectual disability — HP:0001249 | Authors reported “cognitive delay”; intellectual disability is a suggested normalization, not necessarily an exact source term. (pqac-00000018) |
| Microcephaly | 11/15 | 73% | Microcephaly — HP:0000252 | Both neonatal and progressive/acquired microcephaly occurred across reports. (pqac-00000018, pqac-00000033) |
| Abnormal brain MRI | 8/15 | 53% | — | Heterogeneous findings included cerebral atrophy, delayed myelination, white-matter and corpus-callosum abnormalities, and hindbrain malformations. (pqac-00000018) |
| Hypotonia | 7/15 | 47% | Hypotonia — HP:0001252 | Reported muscle-tone abnormality; severity and distribution were not uniformly documented. (pqac-00000018) |
| Spasticity | 4/15 | 27% | Spasticity — HP:0001257 | May be underreported; progressive spasticity was highlighted as a recognizable feature. (pqac-00000018, pqac-00000033) |
| Normal blood lactate among tested patients | 9/9 | 100% of tested | — | Lactate was unreported in 6/15; this is not evidence that all affected individuals always have normal lactate. (pqac-00000018, pqac-00000019) |


*Table: Selected findings from the 15-case TRIT1 review by Muylle et al., DOI: https://doi.org/10.1002/jimd.12550. Percentages describe this small, literature-ascertained case series—not population prevalence—and denominators reflect reporting availability.*