Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

Autosomal recessive

Infancy, Neonatal

Laryngotracheoesophageal cleft type 0

Laryngotracheoesophageal cleft type 1

Infancy, Neonatal

Laryngotracheoesophageal cleft type 2

Infancy, Neonatal

Laryngotracheoesophageal cleft type 3

Infancy, Neonatal

Laryngotracheoesophageal cleft type 4

Infancy, Neonatal

Late infantile CACH syndrome

Autosomal recessive

Childhood

Late infantile CLN1 disease

Autosomal recessive

Late infantile CLN10 disease

Autosomal recessive

Late infantile CLN2 disease

Autosomal recessive

Late infantile CLN5 disease

Late infantile CLN6 disease

Autosomal recessive

Late infantile CLN8 disease

Autosomal recessive

Late-infantile/juvenile Krabbe disease

Autosomal recessive

Adolescent, Childhood, Infancy

Late-onset Steinert myotonic dystrophy

Autosomal dominant

Elderly

Late-onset citrullinemia type I

Autosomal recessive

Adult

Late-onset familial hypoaldosteronism

Adult, Elderly

Late-onset idiopathic chronic pancreatitis

Not applicable

Late-onset nephronophthisis

Autosomal recessive

Leukocyte adhesion deficiency type I

Autosomal recessive

Childhood, Infancy

Leukocyte adhesion deficiency type II

Autosomal recessive

Childhood, Infancy

Leukocyte adhesion deficiency type III

Autosomal recessive

Childhood, Infancy

Lewis-Sumner syndrome

Not applicable

All ages

Leydig cell hypoplasia due to LHB deficiency

Autosomal recessive