SLC40A1-related hemochromatosis

Autosomal dominant

SMARCA4-deficient sarcoma of thorax

Not applicable

Adult

SMPX-related distal myopathy

X-linked recessive

SPONASTRIME dysplasia

Autosomal recessive

Infancy, Neonatal

SRD5A3-CDG

Autosomal recessive

Infancy, Neonatal

SSR4-CDG

X-linked recessive

Infancy, Neonatal

ST3GAL3-CDG

Autosomal recessive

STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

Autosomal dominant

Infancy

STAT3-related early-onset multisystem autoimmune disease

Autosomal dominant

Childhood, Infancy

STING-associated vasculopathy with onset in infancy

Autosomal dominant

Infancy

STT3A-CDG

Autosomal recessive

Infancy, Neonatal

STT3B-CDG

Autosomal recessive

Infancy, Neonatal

STXBP1-related encephalopathy

Autosomal dominant

Neonatal

SUNCT syndrome

Not applicable

Adult

SURF1-related Charcot-Marie-Tooth disease type 4

Autosomal recessive

Childhood

SYNGAP1-related developmental and epileptic encephalopathy

Autosomal dominant

Infancy

Saccharopinuria

Autosomal recessive

Infancy, Neonatal

Saldino-Mainzer syndrome

Autosomal recessive

Infancy

Salivary gland type cancer of the breast

Adult

Sandhoff disease

Autosomal recessive

Adolescent, Adult, Childhood, Infancy

Sandifer syndrome

Not applicable

Adult, Childhood, Infancy

Sarcocystosis

All ages

Sarcoidosis

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly

Sarcosinemia

Autosomal recessive

All ages