Isolated succinate-CoQ reductase deficiency

Autosomal recessive

Infancy, Neonatal

Isolated sulfite oxidase deficiency

Autosomal recessive

Infancy, Neonatal

Isolated tetra-amelia

Antenatal

Isolated thyroid-stimulating hormone deficiency

Autosomal recessive

Infancy, Neonatal

Isolated thyrotropin-releasing hormone deficiency

Unknown

All ages

Isolated tibial hemimelia

Autosomal dominant, Autosomal recessive, Not applicable

Antenatal, Infancy, Neonatal

Isolated total cerebellar vermis agenesis

Isolated tracheoesophageal fistula

Not applicable

Neonatal

Isolated ulnar hemimelia

Infancy, Neonatal

Isolated unilateral hemispheric cerebellar hypoplasia

Infancy, Neonatal

Isosporiasis

Not applicable

All ages

Isotretinoin syndrome

Not applicable

Antenatal, Infancy, Neonatal

Isotretinoin-like syndrome

Autosomal recessive, X-linked recessive

Infancy, Neonatal

Isovaleric acidemia

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Jackson-Weiss syndrome

Autosomal dominant

Neonatal

Jacobsen syndrome

Not applicable, Unknown

Antenatal

Jalili syndrome

Autosomal recessive

Childhood

Jansen-de Vries syndrome

Autosomal dominant

Infancy

Japanese encephalitis

Not applicable

All ages

Jawad syndrome

Autosomal recessive

Infancy, Neonatal

Jejunal neuroendocrine tumor

Adult

Jervell and Lange-Nielsen syndrome

Autosomal recessive

Neonatal

Jessner lymphocytic infiltration of the skin

Not applicable

Adult

Jeune syndrome

Autosomal recessive

Antenatal, Neonatal