Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Autosomal recessive

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Autosomal recessive

Superficial corneal dystrophy

Autosomal dominant, X-linked recessive

All ages

Superficial epidermolytic ichthyosis

Autosomal dominant

Infancy, Neonatal

Superficial pemphigus

Not applicable

All ages

Superficial siderosis

Not applicable

All ages

Supernumerary kidney

Neonatal

Supernumerary nostril

Not applicable

Antenatal, Neonatal

Supratip dysplasia

Not applicable

Neonatal

Supravalvular aortic stenosis

Autosomal dominant

All ages

Susac syndrome

Unknown

All ages

Susceptibility to infection due to TYK2 deficiency

Autosomal recessive

Infancy

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Autosomal recessive

Infancy, Neonatal

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

Autosomal recessive

Sweet syndrome

Multigenic/multifactorial

Adult

Sydenham chorea

Adolescent, Adult, Childhood

Symbrachydactyly of hands and feet

Antenatal, Neonatal

Symmetrical thalamic calcifications

Not applicable

Neonatal

Sympathetic ophthalmia

Not applicable

All ages

Symphalangism with multiple anomalies of hands and feet

Infancy, Neonatal

Symptomatic form of Coffin-Lowry syndrome in female carriers

Autosomal dominant, Not applicable

Antenatal, Infancy, Neonatal

Symptomatic form of HFE-related hemochromatosis

Autosomal recessive

Adult

Symptomatic form of X-linked centronuclear myopathy in female carriers

Childhood, Infancy, Neonatal

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

X-linked recessive

Adult