(part iii) Table summarising findings for each child individually
| Child (family) | 12 | 13 | 14 (C) | 15 (C) | 16 (C) |
| 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 | N | Y | Y | Y |
| Atrophy of optic disc by 2 years | Y | N | Y | Y | Y |
| Progressive brain atrophy: affecting cerebellum±brainstem | Y | N | Y | Y | Y |
| Supportive criteria | |||||
| Dysmorphic features | Y | Y | Y | Y | Y |
| Oedema of the face and limbs | Y | Y | Y | Y | Y |
| Features contrary to PEHO | |||||
| Other features | – | – | – | Microcephaly at birth | Microcephaly at birth |
| Abnormal gyral formation | Abnormal gyral formation | ||||
| Diagnosis assigned | |||||
| Diagnosis assigned | PEHO | PEHO-like | PEHO | PEHO-like | PEHO-like |
| Genetics | |||||
| Gene | CASK | No pathogenic mutation found | CCDC88A | ||
| Inheritance | De novo AD | Homozygous AD | |||
| Nucleotide change | c.274C>A | c.2313delT | |||
| Protein change | p.(Glu92*Ter) | p.(Leu772*Ter) | |||
| ExAC frequency | 0 | 0 | 0 | ||
| Pathogenicity* | See ref 38 | See ref 31 |
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.