Kyphoscoliotic Ehlers-Danlos syndrome

Antenatal, Neonatal

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Autosomal recessive

Infancy, Neonatal

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

Autosomal recessive

Infancy, 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

L-ferritin deficiency

Autosomal dominant, Autosomal recessive

Childhood

L1 syndrome

X-linked recessive

Antenatal, Infancy, Neonatal

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

LRP5-related primary osteoporosis

Autosomal dominant

Adolescent, Childhood

LUMBAR syndrome

Unknown

Infancy, Neonatal

La Crosse encephalitis

Not applicable

All ages

Lacrimoauriculodentodigital syndrome

Autosomal dominant

Antenatal, Neonatal

Lafora disease

Autosomal recessive

Adolescent, Childhood

Laing distal myopathy

Autosomal dominant

Childhood

Lamb-Shaffer syndrome

Autosomal dominant

Infancy

Lambert syndrome

Unknown

Neonatal

Lambert-Eaton myasthenic syndrome

Not applicable

Adult

Lamellar ichthyosis

Autosomal dominant, Autosomal recessive

Neonatal

Laminin subunit alpha 2-related congenital muscular dystrophy

Autosomal recessive

Antenatal, Infancy, Neonatal