(part i) Table summarising findings for each child individually
| Child (family) | 1 (A) | 2 (A) | 3 (A) | 4 (A) | 5 (A) |
| Necessary criteria | |||||
| Infantile hypotonia | Y | Y | Y | Y | Y |
| Profound psychomotor retardation | Y | Y | Y | Y | Y |
| Convulsive disorders presenting with myoclonias and infantile spasms | Y | Y | Y | Y | Y |
| Absence or early loss of visual fixation | Y | Y | Y | Y | Y |
| Atrophy of optic disc by 2 years | Y | Y | Y | Not examined after 2 years | Y |
| Progressive brain atrophy: affecting cerebellum±brainstem | Y | Normal at 6 months | No MRI | Images not found | Y |
| Supportive criteria | |||||
| Dysmorphic features | Y | Y | Y | Y | Y |
| Oedema of the face and limbs | Y | Y | Y | Y | N |
| Features contrary to PEHO | |||||
| Other features | – | – | – | – | – |
| Diagnosis assigned | |||||
| Diagnosis assigned | PEHO | PEHO-like | PEHO-like | PEHO-like | PEHO |
| Genetics | |||||
| Gene | PCLO | PCLO | PCLO | PCLO | PCLO |
| Inheritance | Homozygous Autosomal Recessive (AR) | ||||
| Nucleotide change | c.2703C>T | ||||
| c.7080C>G | |||||
| Protein change | p.(Gln901*Ter) | ||||
| p.(Tyr2360*Ter) | |||||
| ExAC frequency | 0 | ||||
| Pathogenicity* | Assumed pathogenic and see ref 34 | ||||
Children 1–5 are from family A; children 8–10 are from family B; children 14–16 are from family C.
*For each mutation pathogenicity, details are within the paper. Here we give either a reference confirming pathogenicity or where this is unavailable, the SIFT score ().
ExAc, Exome Aggregation Consortium; PEHO, progressive encephalopathy, hypsarrhythmia and optic atrophy; SIFT, Scale Invariant Feature Transform.