Silver-Russell syndrome due to an imprinting defect of 11p15

Not applicable, Unknown

Antenatal, Neonatal

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

Not applicable, Unknown

Infancy, Neonatal

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Antenatal, Neonatal

Simple cryoglobulinemia

Adult, Elderly

Simpson-Golabi-Behmel syndrome

X-linked recessive

Antenatal, Childhood, Infancy, Neonatal

Sinding-Larsen-Johansson disease

Not applicable

Adolescent, Childhood

Single-organ polyarteritis nodosa

Not applicable

Single-system multifocal Langerhans cell histiocytosis

Not applicable

Singleton-Merten dysplasia

Autosomal dominant

No data available

Sinoatrial node dysfunction and deafness

Autosomal recessive

Infancy, Neonatal

Sirenomelia

Not applicable

Antenatal, Neonatal

Sitosterolemia

Autosomal recessive

All ages

Situs ambiguus

Multigenic/multifactorial

Antenatal

Situs inversus totalis

Autosomal dominant, Autosomal recessive, Not applicable

Sjögren-Larsson syndrome

Autosomal recessive

Infancy, Neonatal

Skeletal Ewing sarcoma

Not applicable

All ages

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Autosomal recessive

Antenatal, Neonatal

Skeletal dysplasia-epilepsy-short stature syndrome

Neonatal

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Autosomal dominant, Autosomal recessive

Childhood

Sleep-related hypermotor epilepsy

Autosomal dominant

Adolescent, Adult, Childhood

Slow-channel congenital myasthenic syndrome

Autosomal dominant, Autosomal recessive

Small bowel atresia

Autosomal recessive, Not applicable, Unknown

Antenatal

Small cell carcinoma of the bladder

Not applicable

Adult

Small cell carcinoma of the ovary

Not applicable

Adolescent, Adult, Childhood, Infancy