A comparison of the clinical findings of individuals homozygous for HERC2 c.1781C>T (Pedigree 1B)
| IX:8 | IX:10 | IX:1 | IX:2 | |
|---|---|---|---|---|
| Gender | M | M | F | F |
| Age (years) | 17.8 | 16.8 | 0.97 | 2.7 |
| Growth parameters | ||||
| Birth weight SDS | N/K | −2.52 | −0.27 | −0.44 |
| OFC SDS | N/K | N/K | −1.16 | −1.64 |
| Development | ||||
| Speech | SS | SS | – | <10 words |
| Walked (years) | 4.5 | 4 | – | – |
| Intellectual disability | Mild/moderate | Mild/moderate | Moderate | Mild/moderate |
| Neurology | ||||
| Childhood hypotonia | N/K | N/K | + | + |
| Gait | N/K | BB | N/K | N/A |
| Foot pronation | + | + | N/A | + |
| Seizures | FC | none | FC | − |
| Neuroimaging | MRI Absent post CC | N/K | N/K | N/K |
| Hyperactivity | − | − | N/A | − |
| Behavioural characteristics | N/A | Sociable | ||
| Physical anomalies | ||||
| Strabismus | − | − | − | − |
| High narrow palate | N/K | N/K | N/K | N/K |
| Feet | N/K | N/K | SG | SG |
| Other physical findings | ||||
BB, broad base; CC, corpus callosum; Freq, frequent; FC, febrile convulsion; MRI, magnetic resonance imaging; MVP, mitral valve prolapse; N/K, not known; N/A, not available; OFC, occipital frontal circumference; OM, otitis media; OT, overlapping toes; Post, posterior; SDS, SD scores; SS, short sentences; SG, sandal gap; TGA, transposition of the great arteries.