Rothmund-Thomson syndrome type 1

Autosomal recessive

Infancy, Neonatal

Rothmund-Thomson syndrome type 2

Autosomal recessive

Infancy, Neonatal

Rothmund-Thomson syndrome type 3

Autosomal recessive

Rothmund-Thomson syndrome type 4

Autosomal recessive

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

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Autosomal recessive

Neonatal

Sacrococcygeal teratoma

All ages

Salla disease

Autosomal recessive

Infancy

Sandhoff disease, adult form

Autosomal recessive

Adult

Sandhoff disease, infantile form

Autosomal recessive

Infancy

Sandhoff disease, juvenile form

Autosomal recessive

Adolescent, Childhood

Scheie syndrome

Autosomal recessive

Adolescent, Adult, Childhood

Scleromyxedema without monoclonal gammopathy

Adolescent, Adult, Elderly

Secondary polyarteritis nodosa

Not applicable

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Not applicable

Neonatal

Self-limited epilepsy with autonomic seizures

Semilobar holoprosencephaly

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Septopreoptic holoprosencephaly

Multigenic/multifactorial

Infancy, Neonatal

Seronegative autoimmune hepatitis

Adult

Severe Canavan disease

Autosomal recessive

Infancy, Neonatal

Severe hemophilia A

X-linked recessive

Infancy, Neonatal

Severe hemophilia B

X-linked recessive

Infancy, Neonatal

Severe phosphoribosylpyrophosphate synthetase superactivity

X-linked recessive

Childhood, Infancy, Neonatal