Kindler epidermolysis bullosa

Autosomal recessive

Infancy, Neonatal

Kjellin syndrome

Autosomal recessive

Adolescent, Adult, Childhood

Kleine-Levin syndrome

Adolescent, Adult, Childhood

Kniest dysplasia

Autosomal dominant

Antenatal, Infancy, Neonatal

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Autosomal dominant

Childhood

Kostmann syndrome

Autosomal recessive

Neonatal

Krabbe disease

Autosomal recessive

Adolescent, Adult, Childhood, Infancy, Neonatal

Kufor-Rakeb syndrome

Autosomal recessive

Adolescent, Childhood

Kuru

Multigenic/multifactorial, Not applicable

All ages

Kyasanur forest disease

All ages

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Autosomal recessive

Infancy, Neonatal

Kyphoscoliotic Ehlers-Danlos syndrome

Antenatal, Neonatal

Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

Autosomal recessive

Childhood, Infancy, Neonatal

L-2-hydroxyglutaric aciduria

Autosomal recessive

Childhood

L-Arginine:glycine amidinotransferase deficiency

Autosomal recessive

Infancy

LAMA5-related multisystemic syndrome

Autosomal dominant

Infancy, Neonatal

LCAT deficiency

Autosomal recessive

All ages

LIG4 syndrome

Autosomal recessive

Infancy, Neonatal

LIPE-related familial partial lipodystrophy

Autosomal recessive

Adult

LMNA-related cardiocutaneous progeria syndrome

Autosomal dominant

Childhood

La Crosse encephalitis

Not applicable

All ages

Lafora disease

Autosomal recessive

Adolescent, Childhood

Laing distal myopathy

Autosomal dominant

Childhood

Lamb-Shaffer syndrome

Autosomal dominant

Infancy