Joubert syndrome with hepatic defect

Autosomal recessive

Neonatal

Junctional epidermolysis bullosa inversa

Autosomal recessive

Infancy, Neonatal

Junctional epidermolysis bullosa with pyloric atresia

Autosomal recessive

Antenatal, Neonatal

Juvenile Huntington disease

Autosomal dominant

Adolescent, Childhood

Juvenile absence epilepsy

Multigenic/multifactorial, Unknown

Adolescent

Juvenile amyotrophic lateral sclerosis

Autosomal recessive

Childhood

Juvenile cataract-microcornea-renal glucosuria syndrome

Autosomal dominant

Childhood

Juvenile dermatomyositis

Not applicable

Adolescent, Childhood, Infancy

Juvenile glaucoma

Autosomal dominant

Adolescent, Childhood

Juvenile myelomonocytic leukemia

Not applicable

Childhood, Infancy

Juvenile myoclonic epilepsy

Multigenic/multifactorial

Adolescent, Childhood

Juvenile nasopharyngeal angiofibroma

Not applicable

Adolescent, Childhood

Juvenile overlap myositis

Adolescent, Childhood

Juvenile polymyositis

Adolescent, Childhood

Juvenile polyposis syndrome

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Juvenile primary lateral sclerosis

Autosomal recessive

Childhood

Juvenile temporal arteritis

Unknown

Childhood

Juvenile xanthogranuloma

Not applicable

Adolescent, Childhood, Infancy, Neonatal

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Autosomal recessive

Adolescent, Childhood, Infancy

KCNQ2-related developmental and epileptic encephalopathy

Autosomal dominant

Infancy, Neonatal

KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome

Autosomal dominant

Infancy, Neonatal

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Autosomal recessive

Antenatal, Neonatal

KID syndrome

Autosomal dominant, Autosomal recessive, Not applicable

Neonatal

KLHL7-related Crisponi/cold-induced sweating-like syndrome

Autosomal recessive