Table 1 Patient´s main sociodemographic characteristics, medical history and genetic mutation
Patient codification | A | B | C | D | E | F | G | H | I |
|---|---|---|---|---|---|---|---|---|---|
Age | 11 | 13 | 13 | 7 | 12 | 6 | 8 | 8 | 11 |
Sex | Male | Female | Female | Male | Female | Female | Female | Female | Male |
Age of onset | 4 | ND | 5 | 4 | 3 | 4 | 4 | 4 | 3 |
Age of diagnosis | ND | ND | ND | ND | 10 | 6 | 8 | 8 | 3 |
Relevant medical history | Severe myopia | Severe TBI w/neurological sequelae | None | None | None | None | None | None | None |
Genetic | NI | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous | Homozygous |
Mutation | E3: NI | E3: c.214 G > T | E3: c.214 G > T | E3: c.214 G > T | E3: c.214 G > T | E3: c.214 G > T | E3: c.214 G > T | E3: c.214 G > T | E3: c.214 G > T |
I2: NI | I2: c.198 + 104 T > C | I2: c.198 + 104 T > C | I2: c.198 + 104 T > C | I2: c.198 + 104 T > C | I2: c.198 + 104 T > C | I2: c.198 + 104 T > C | I2: c.198 + 104 T > C | I2: c.198 + 104 T > C | |
E3: NI | E3: p.E72X | E3: p.E72X | E3: p.E72X | E3: p.E72X | E3: p.E72X | E3: p.E72X | E3: p.E72X | E3: p.E72X |