Sanfilippo syndrome type D

Autosomal recessive

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Autosomal dominant

Childhood

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Unknown

Infancy, Neonatal

Sickle cell-beta plus-thalassemia

Autosomal recessive

Sickle cell-beta zero-thalassemia

Autosomal recessive

Silver-Russell syndrome due to 11p15 microduplication

Autosomal dominant, Not applicable

Antenatal, Neonatal

Silver-Russell syndrome due to 7p11.2p13 microduplication

Autosomal dominant, Not applicable

Infancy, Neonatal

Silver-Russell syndrome due to a point mutation

Autosomal dominant

Antenatal, Neonatal

Silver-Russell syndrome due to an imprinting defect of 11p15

Not applicable, Unknown

Antenatal, Neonatal

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

Not applicable, Unknown

Infancy, Neonatal

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

Antenatal, Neonatal

Slow-channel congenital myasthenic syndrome

Autosomal dominant, Autosomal recessive

Spirillary rat-bite fever

All ages

Staphylococcal toxic-shock syndrome

Not applicable

All ages

Streptobacillary rat-bite fever

All ages

Streptococcal toxic-shock syndrome

Not applicable

All ages

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Autosomal recessive

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Autosomal recessive

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Autosomal recessive

Synaptic congenital myasthenic syndrome

Autosomal recessive

Infancy, Neonatal

Temple syndrome due to maternal uniparental disomy of chromosome 14

Antenatal, Neonatal

Temple syndrome due to paternal 14q32.2 hypomethylation

Autosomal dominant, Not applicable

Infancy, Neonatal

Temple syndrome due to paternal 14q32.2 microdeletion

Autosomal dominant, Not applicable

Infancy, Neonatal

Turner syndrome due to structural X chromosome anomalies

Antenatal, Childhood, Infancy, Neonatal