Isolated growth hormone deficiency type IB

Autosomal recessive

Infancy, Neonatal

Isolated growth hormone deficiency type II

Autosomal dominant

Infancy, Neonatal

Isolated growth hormone deficiency type III

X-linked recessive

Infancy, Neonatal

Isolated growth hormone deficiency type IV

Autosomal recessive

Isolated jejuno-ileal duplication

Not applicable

Isolated partial cerebellar vermis agenesis

Isolated sulfite oxidase deficiency

Autosomal recessive

Infancy, Neonatal

Isolated total cerebellar vermis agenesis

Juvenile CLN1 disease

Autosomal recessive

Juvenile CLN10 disease

Autosomal recessive

Juvenile CLN2 disease

Autosomal recessive

Juvenile CLN3 disease

Autosomal recessive

Juvenile CLN5 disease

Autosomal recessive

Juvenile CLN6 disease

Autosomal recessive

Juvenile hyaline fibromatosis

Autosomal recessive

Childhood

Juvenile myasthenia gravis

Not applicable

Adolescent, Childhood, Infancy, Neonatal

Juvenile nephronophthisis

Autosomal recessive

Juvenile nephropathic cystinosis

Autosomal recessive

Adolescent, Childhood

Juvenile or adult CACH syndrome

Autosomal recessive

Adolescent, Adult

Juvenile polyposis of infancy

Autosomal dominant, Not applicable

Infancy, Neonatal

Juvenile sialidosis type 2

Autosomal recessive

Adolescent

Juvenile-onset Steinert myotonic dystrophy

Autosomal dominant

Childhood

Kallmann syndrome

Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, X-linked recessive

Adolescent, Childhood

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Autosomal recessive

Infancy, Neonatal