Short stature-delayed bone age due to thyroid hormone metabolism deficiency

Autosomal recessive

Childhood, Infancy

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Autosomal recessive

Infancy, Neonatal

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

Autosomal dominant

Infancy, Neonatal

Short-limb skeletal dysplasia with severe combined immunodeficiency

Not applicable

Infancy, Neonatal

Shwachman-Diamond syndrome

Autosomal recessive

Antenatal, Childhood, Infancy, Neonatal

Sialidosis type 1

Autosomal recessive

Adolescent, Childhood

Sialidosis type 2

Autosomal recessive

Antenatal, Childhood, Infancy, Neonatal

Sialuria

Autosomal dominant

Infancy

Sickle cell S-C disease

Autosomal recessive

All ages

Sickle cell anemia

Autosomal recessive

All ages

Sickle cell-beta-thalassemia disease

Autosomal recessive

All ages

Silent sinus syndrome

Not applicable

Adult

Silver-Russell syndrome

Autosomal dominant, Not applicable

Antenatal, Neonatal

Simple cryoglobulinemia

Adult, Elderly

Sinding-Larsen-Johansson disease

Not applicable

Adolescent, Childhood

Sinoatrial node dysfunction and deafness

Autosomal recessive

Infancy, Neonatal

Sitosterolemia

Autosomal recessive

All ages

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

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Autosomal dominant, Autosomal recessive

Childhood

Sleep-related hypermotor epilepsy

Autosomal dominant

Adolescent, Adult, Childhood

Small cell carcinoma of the bladder

Not applicable

Adult

Small cell carcinoma of the ovary

Not applicable

Adolescent, Adult, Childhood, Infancy