Temperature-sensitive oculocutaneous albinism type 1

Autosomal recessive

Infancy, Neonatal

Tetrahydrobiopterin-responsive phenylketonuria

Autosomal recessive

Infancy, Neonatal

Tetrahydrobiopterin-unresponsive phenylketonuria

Autosomal recessive

Thanatophoric dysplasia type 1

Autosomal dominant, Not applicable

Antenatal, Neonatal

Thanatophoric dysplasia type 2

Autosomal dominant, Not applicable

Infancy, Neonatal

Thiamine-responsive maple syrup urine disease

Autosomal recessive

Infancy

Timothy syndrome type 1

Autosomal dominant

Antenatal, Neonatal

Timothy syndrome type 2

Autosomal dominant

Antenatal, Neonatal

Total early-onset cataract

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Toxic epidermal necrolysis

Not applicable

All ages

Toxin-mediated infectious botulism

All ages

Transient neonatal myasthenia gravis

Not applicable

Antenatal, Neonatal

Tremor-ataxia-central hypomyelination syndrome

Autosomal recessive

Childhood, Infancy

Typical urticaria pigmentosa

Autosomal dominant, Unknown

UMOD-related autosomal dominant tubulointerstitial kidney disease

Autosomal dominant

Adolescent, Adult

Unicentric Castleman disease

All ages

Unifocal Langerhans cell histiocytosis

Not applicable

Unilateral focal polymicrogyria

Antenatal, Infancy, Neonatal

Unilateral hemispheric polymicrogyria

Antenatal, Infancy, Neonatal

Unilateral multicystic dysplastic kidney

Autosomal dominant

All ages

Usher syndrome type 1

Autosomal recessive

Infancy, Neonatal

Usher syndrome type 2

Autosomal recessive

Infancy, Neonatal

Usher syndrome type 3

Autosomal recessive

Adolescent, Childhood

Vegetative pyoderma gangrenosum

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly