Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

Autosomal recessive

Infancy, Neonatal

Severe myopia-generalized joint laxity-short stature syndrome

Autosomal recessive

Neonatal

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

Unknown

Infancy, Neonatal

Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency

Autosomal recessive

Neonatal

Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

Autosomal dominant

Infancy, Neonatal

Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome

Autosomal recessive

Severe oculo-renal-cerebellar syndrome

Autosomal recessive

Infancy

Severe phosphoribosylpyrophosphate synthetase superactivity

X-linked recessive

Childhood, Infancy, Neonatal

Severe primary trimethylaminuria

Autosomal recessive

Childhood, Infancy

Sex cord-stromal tumor of testis

Adolescent, Adult

Shashi-Pena syndrome

Autosomal dominant

Sheehan syndrome

Adult

Sheldon-Hall syndrome

Autosomal dominant, Not applicable

Neonatal

Shiga toxin-associated hemolytic uremic syndrome

Not applicable

All ages

Shigellosis

Not applicable

All ages

Shone complex

Adult, Childhood, Infancy, Neonatal

Short bowel syndrome

Short chain acyl-CoA dehydrogenase deficiency

Autosomal recessive

Childhood, Infancy, Neonatal

Short fifth metacarpals-insulin resistance syndrome

Autosomal dominant

Adolescent

Short rib-polydactyly syndrome

Autosomal recessive

Antenatal, Neonatal

Short rib-polydactyly syndrome type 5

Autosomal recessive

Antenatal

Short rib-polydactyly syndrome, Beemer-Langer type

Autosomal recessive

Antenatal, Neonatal

Short rib-polydactyly syndrome, Majewski type

Autosomal recessive

Antenatal, Neonatal

Short rib-polydactyly syndrome, Saldino-Noonan type

Autosomal recessive

Neonatal