TABLE 1.
Clinical characteristics of two patients with IHPRF3.
| Patient | F6331-1 | F6331-4 |
| Age (year), Sex | 14, F | 10, F |
| Birth evaluation | ||
| °Birth Weight (centile) | 3,990 g (p90) | 3,850 g (p50) |
| °Birth Length (centile) | 51 cm (p75) | 48 cm (p50) |
| °Apgar Scores (1st/5th min) | 10/10 | 8/9 |
| Last evaluation | ||
| °Weight (centile) | 53.5 kg (p90) | 33.5 kg (p75) |
| °Height (centile) | 164 cm (p > 97) | 133 cm (p50) |
| °Head circumference (centile) | 55 cm (p96) | 53.5 cm (p < 96) |
| Development | ||
| °Regression | No | yes |
| °Seizures | no | yes |
| °Speech | Few words | Non-verbal |
| °Neuropsychomotor development | Severe delay | Severe delay |
| °Cognitive | Severe delay | Severe delay |
| °ASD | yes | yes |
| °ID | yes | yes |
| °Hypotonia | yes | no |
| °Motor | Motor delay | Motor dyspraxia |
| EEG | No | Diffuse bilateral slow waves with multifocal epileptiform discharges |
| MRI | Volumetric reduction and abnormal T2 signal hyperintensity in white matter | Volumetric reduction and abnormal T2 signal hyperintensity in white matter |
| Facial dismorphism | Deep-set eyes, prominent nasal bridge, accentuated Cupid’s bow of the upper lip, high palate, widely spaced teeth; bitemporal narrowing | Deep-set eyes, prominent nasal bridge, accentuated Cupid’s bow of the upper lip, high palate, widely spaced teeth, bitemporal narrowing |
| Other features | Prominent digit pads | prominent digit pads, brachydactyly of the 4th and 5th toes and hypoplastic nails |
| Metabolic alterations | dyslipdemia and hypothyroidism | dyslipdemia and hypothyroidism |
ASD, autism spectrum disorder; ID, intellectual disability; EEG, electroencephalogram; MRI, magnetic resonance imaging.