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Table 2 Description of children living with rare diseases

From: Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Characteristics N (%)
Gender
 Male 256 (55.4)
 Female 206 (44.6)
Age Group (years)
 0 to 5 165 (36)
 6 to 12 176 (38)
 13 to 18 121 (26)
Country of Birth
 Australia 442 (96)
 Other 20 (4)
Ethnicity
 Caucasian 360 (78)
 Middle Eastern 28 (6)
 Asian 22 (5)
 Aboriginal or Torres Strait Islander 10 (2)
Diagnosis Groupings
 Inborn Error of Metabolism 176 (38)
 Genetic Syndrome 63 (13)
 Chromosomal Disorder 50 (11)
 Congenital Malformation Syndromes 26 (6)
 Neuromuscular Disorder 24 (5)
 Gastrointestinal Disorder 10 (2)
 Epilepsy Syndrome 9 (2)
 Cardiac Disorder 7 (1)
 Chromosomal Disorder/Genetic Syndrome 7 (1)
 Neurodegenerative Disorder 6 (1)
 Immune Disorder 6 (1)
 Skeletal Dysplasia 6 (1)
 Dermatological Disorder 5 (1)
 Renal Disorder 5 (1)
 Neurodevelopmental Disorder 3 (<1)
 Respiratory Disorder 3 (<1)
 Developmental Eye Disorder 2 (<1)
 Skeletal Disorder 2 (<1)
 Neuropathy 1 (<1)
 Familial Cancer Disorder 1 (<1)
 Endocrinological Disorder 1 (<1)
 Connective Tissue Disorder 1 (<1)
 Channelopathy 1 (<1)
 Othera 16 (3)
 Diagnosis Not Provided by family 5 (1)
 No Diagnosis Yet 27 (6)
  1. a Other = rare disorders with <5 children in the sample, and combinations of diagnostic groups e.g. respiratory and neuromuscular disorder