Table 1.
Number of subjects (living) | 70 (59) |
---|---|
Age—median (range) | 29 (5–60) |
Sex | |
Female | 41 |
Male | 29 |
Race | |
Black | 9 |
Asian | 3 |
Caucasian | 51 |
Othera | 7 |
Mutation domain | |
DNA domain | 37 |
SH2 domain | 32 |
Transactivation domain | 1 |
Symptoms, N (%) | |
GERD | 29 (40) |
Odynophagia | 4 (6) |
Dysphagia | 22 (31) |
Abdominal pain | 17 (24) |
Nausea | 13 (19) |
Vomiting | 15 (21) |
Constipation | 10 (14) |
Early satiety | 7 (10) |
Chest pain | 6 (9) |
Diarrhea | 5 (7) |
Race mixed or unknown