Kindler epidermolysis bullosa

Autosomal recessive

Infancy, Neonatal

King-Denborough syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

Kjellin syndrome

Autosomal recessive

Adolescent, Adult, Childhood

Kleefstra syndrome

Autosomal dominant

Neonatal

Kleefstra syndrome due to 9q34 microdeletion

Not applicable

Infancy, Neonatal

Kleefstra syndrome due to a point mutation

Autosomal dominant

Neonatal

Kleine-Levin syndrome

Adolescent, Adult, Childhood

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

Autosomal recessive

Infancy

Kniest dysplasia

Autosomal dominant

Antenatal, Infancy, Neonatal

Knobloch syndrome

Autosomal recessive

Antenatal, Infancy, Neonatal

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Autosomal dominant

Childhood

Kommerell diverticulum

Not applicable

Koolen-De Vries syndrome

Autosomal dominant

Antenatal, Infancy, Neonatal

Koolen-De Vries syndrome due to a point mutation

Autosomal dominant

Infancy, Neonatal

Kosaki overgrowth syndrome

No data available

Infancy

Kostmann syndrome

Autosomal recessive

Neonatal

Kousseff syndrome

Antenatal, Infancy, Neonatal

Krabbe disease

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Kufor-Rakeb syndrome

Autosomal recessive

Adolescent, Childhood

Kuru

Multigenic/multifactorial, Not applicable

All ages

Kuskokwim syndrome

Autosomal recessive

Childhood, Neonatal

Kyasanur forest disease

All ages

Kyphomelic dysplasia

Antenatal, Neonatal

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Autosomal recessive

Infancy, Neonatal