| Phenotype | HPO Term | Frequency | Onset | Severity | Progression |
|---|---|---|---|---|---|
| Severe visual impairment/blindness | HP:0000505 | 62–89% | Congenital / early infancy | Severe | Progressive (pqac-00000003, pqac-00000004) |
| Nystagmus | HP:0000639 | Very frequent | Infantile | Moderate–severe | May stabilize (pqac-00000003, pqac-00000005) |
| Photophobia | HP:0000613 | Frequent | Childhood | Moderate–severe | Stable (pqac-00000003) |
| High hyperopia | HP:0000540 | Frequent | Congenital / early childhood | Variable | Variable / often stable early (pqac-00000003) |
| Absent or severely reduced electroretinogram | HP:0000512 | Near-universal | Congenital / early childhood | Severe | Typically persistent (pqac-00000003, pqac-00000007) |
| Oculodigital sign / eye poking | HP:0200026 | Frequent | Childhood | Variable | Variable (pqac-00000003, pqac-00000005) |
| Sluggish pupillary reflex | HP:0000654 | Frequent | Congenital | Moderate | Stable (pqac-00000003) |
| Marbleized / salt-and-pepper fundus | HP:0007722 | Frequent | 1st–2nd decade | Variable | Progressive (pqac-00000003, pqac-00000005) |
| Macular cyst-like lesions | HP:0040049 | Frequent | Childhood to adulthood | Variable | Progressive / may fluctuate with degeneration (pqac-00000002, pqac-00000013) |
| Photoreceptor degeneration | HP:0000510 | Universal | Postnatal | Severe | Progressive (pqac-00000001, pqac-00000010, pqac-00000011) |
| Cone-rod dystrophy pattern | HP:0000548 | Universal / characteristic | Congenital / early childhood | Severe | Progressive (pqac-00000003, pqac-00000005) |


*Table: This table summarizes the core phenotypic features reported for CEP290-associated Leber congenital amaurosis 10, aligned to suggested HPO terms and annotated with typical frequency, onset, severity, and progression. It is useful for knowledge-base curation and phenotype harmonization.*