Disease List
- Saethre-Chotzen syndrome
- Sandhoff disease
- Sanfilippo syndrome - See Mucopolysaccharidosis Type III
- SCADD - See Acyl-coa dehydrogenase, short-chain, deficiency of
- Scheie syndrome - See Mucopolysaccharidosis Type I
- Schilder disease - See Adrenoleukodystrophy
- Schilder-Addison Complex - See Adrenoleukodystrophy
- Scott Aarskog syndrome - See Aarskog syndrome
- Sickle-cell anemia
- Sideroblastic anemia
- Siemerling-Creutzfeldt Diease - See Adrenoleukodystrophy
- Sly syndrome - See Mucopolysaccharidosis Type VII
- SMA - See Spinal muscular atrophy, type I
- SMA1 - See Spinal muscular atrophy, type I
- Smith-Lemli-Opitz syndrome
- Smith-magenis syndrome
- Sotos syndrome
- Sphingomyelinase deficiency - See Niemann-pick types a/b
- Spielmeyer-Sjogren - See Neuronal ceroid lipofuscinosis
- Spina bifida - hypospadias
- Spinal muscular atrophy, type I
- Stickler syndrome, type i, nonsyndromic ocular
- Syndromic biliary hypoplasia - See Alagille syndrome
- SYNGAP1
