SMARCA2-related blepharophimosis-intellectual disability syndrome

Autosomal dominant

Adolescent, Childhood, Infancy

SMARCA4-deficient sarcoma of thorax

Not applicable

Adult

SMPX-related distal myopathy

X-linked recessive

SPECC1L-related hypertelorism syndrome

Autosomal dominant

Neonatal

SPONASTRIME dysplasia

Autosomal recessive

Infancy, Neonatal

SRD5A3-CDG

Autosomal recessive

Infancy, Neonatal

SSR4-CDG

X-linked recessive

Infancy, Neonatal

ST3GAL3-CDG

Autosomal recessive

STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

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

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Autosomal recessive

Antenatal, Neonatal

Sacrococcygeal teratoma

All ages

Saethre-Chotzen syndrome

Autosomal dominant

Antenatal, Neonatal

Sagliker syndrome

Multigenic/multifactorial

All ages

Saldino-Mainzer syndrome

Autosomal recessive

Infancy