Table 2 Diagnostic groups and diagnoses reported on in included articles

Diverse rare genetic diseases**

Arthrogryposis

1

Rare genetic diseases, mixed populations

2

Congenital upper-limb deficiency

2

Familial mediterranean fever

1

Hydrocephalus

1

Hereditary angio-oedema

1

Klinefelter syndrome

1

Primary immunodeficiency disorder

1

Neurofibromatosis

3

Rare inborn metabolism diseases

Noonan syndrome

1

Barth syndrome

1

Silver-Russel syndrome

1

Fabry disease

4

Spina Bifida

1

Familial chylomicronemia

1

Turner syndrome

2

Gaucher disease

3

Velocardiofacial syndrome

2

Mevalonate kinase deficiency

1

Morquio A syndrome, mucopoly-saccharidosis Iva

1

Mucopolysaccharidosis VII

3

Paroxysmal nocturnal hemoglobinuria

3

Pompe disease

8

Porphyria

4

Rare genetic bone diseases

McCune-Albright syndrome

1

Multiple osteochondroma

1

Osteogenesis imperfecta

5

X-linked hypophosphatemia

3

Rare genetic hematological diseases

Congenital (hereditary) Thrombotic Thrombocytopenic purpura

1

Haemophilia

1

Severe aplastic anemia

1

Rare genetic neurologic diseases

Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I)

11

Duchenne muscular dystrophy

8

Facioscapulohumeral muscular dystrophy

10

Hereditary ataxias

6

Hereditary spastic paraplegia

4

Limb-girdle muscle dystrophy

1

Mitochondrial diseases

9

Muscular dystrophies, mixed populations

26

Myotonic dystrophies

40

Oculopharyngeal muscular dystrophy

2

Rare genetic respiratory diseases

Cystic fibrosis

10

Lymphangioleiomyomatosis

3

Rare genetic vascular diseases

Ehlers-Danlos syndrome, rare genetic subtypes

3

Marfan syndrome

11