Table 1 Overview of patient cohort
From: Lived experiences of genetic diagnosis for rare disease patients: a qualitative interview study
Rare diseases | n | Sex | Age |
|---|---|---|---|
Rare neurological diseases | 2 | M | 20–30 |
30–50 | |||
Rare endocrinological diseases | 1 | F | 30–50 |
Rare kidney diseases | 1 | M | 30–50 |
Rare autoimmune diseases | 3 | F | 30–50 |
Craniofacial anomalies and ear, nose, and throat disorders | 2 | F | 20–30 |
30–50 | |||
Connective tissue and musculoskeletal diseases | 1 | F | 60 +  |
Not assignable | 2 | F | 30–50 |
50–60 | |||
Negative result | 2 | F | 20–30 |
30–50 |