SAMD9L-associated autoinflammatory syndrome

Not applicable

Neonatal

SAPHO syndrome

Multigenic/multifactorial, Not applicable

Adolescent, Adult, Elderly

SATB2-associated syndrome

Autosomal dominant

Infancy, Neonatal

SATB2-associated syndrome due to a chromosomal rearrangement

Not applicable, Unknown

Infancy, Neonatal

SATB2-associated syndrome due to a pathogenic variant

Autosomal dominant

Antenatal, Infancy, Neonatal

SBDS-related severe neonatal spondylometaphyseal dysplasia

SCALP syndrome

Not applicable

Neonatal

SCARF syndrome

X-linked recessive

Infancy, Neonatal

SCGN-related severe early-onset hereditary ulcerative colitis

Autosomal recessive

SERKAL syndrome

Autosomal recessive

Antenatal

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

Autosomal dominant

Neonatal

SHORT syndrome

Autosomal dominant

Neonatal

SHOX-related short stature

Autosomal dominant

Infancy, Neonatal

SIM1-related Prader-Willi-like syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

SIN3-related intellectual disability syndrome due to a point mutation

Autosomal dominant

Antenatal, Infancy, Neonatal

SIX2-related frontonasal dysplasia

Autosomal dominant

Neonatal

SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome

Autosomal dominant

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

Autosomal recessive

SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome

Autosomal dominant, Autosomal recessive

Adolescent, Childhood, Infancy

SLC35A1-CDG

No data available

Infancy, Neonatal

SLC35A2-CDG

Unknown

Infancy, Neonatal

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Autosomal recessive

Neonatal

SLC39A8-CDG

Autosomal recessive

Neonatal

SLC40A1-related hemochromatosis

Autosomal dominant