Table 1 Diagnosis rate of each subgroup of pretest phenotype

Skin diseases

5/12

 Albinism

2/2

 Café-au-lait spots

1/5

 Other

2/5

Nephrotic diseases

23/57

 Congenital adrenal hyperplasia

1/3

 Hematuria

2/2

 Nephrogenic diabetes insipidus

2/2

 Nephrotic syndrome

1/16

 Polycystic kidney

0/3

 Proteinuria

2/3

 Renal glucosuria

1/2

 Renal tubular acidosis

4/4

 Other

10/22

Skeletal diseases

11/29

Endocrine diseases and inborn errors of metabolism

40/106

 Central precocious puberty

0/2

 Diabetes mellitus

1/17

 Hyperlipidemia

2/2

 Hypoglycemia

3/7

 Hypoparathyroidism

1/4

 Mucopolysaccharidosis

2/6

 Other

31/68

Gastroenteric disease

7/21

 Abnormal liver function

1/2

 Hepatitis syndrome/jaundice

1/7

 Other

5/12

Short stature

30/91

Multiple malformation

28/91

Hematopathy and immune diseases

23/77

 Agammaglobulinemia

1/2

 Anemia

3/8

 Autoimmune disease

0/9

 Hepatosplenomegaly

1/3

 Immunodeficiency

6/15

 Periodic fever

2/5

 Other

10/35

Heart and cardiovascular diseases

86/323

 Marfan syndrome

10/25

 Hypertrophic cardiomyopathy

15/39

 Dilated cardiomyopathy

36/173

 Arrhythmogenic right ventricular cardiomyopathy

0/5

 Long QT syndrome

9/16

 Pulmonary arterial hypertension

5/18

 Tachycardia

0/5

 Other

11/42

Neuromuscular diseases

69/266

 Cerebral/cerebellar dysplasia

1/12

 Developmental delay

9/21

 Encephalopathy

2/9

 Infantile spasms

1/4

 Intellectual delay

5/19

 Myopathy

10/46

 Seizure/epilepsy

23/73

 Other

18/82

Disorders of sex development

15/63

 Ambiguous external genitalia

5/7

 Gonadal dysplasia

1/11

 Male pseudohermaphroditism

2/4

 Micropenis

5/19

 Other

2/22

Respiratory diseases

4/20

 Bronchiectasia

0/7

 Pneumonia

1/6

 Other

3/7

Neoplasm

1/5

Other rare genetic diseases

39/162

Total

381/1,323