Isolated neonatal sclerosing cholangitis

Autosomal recessive

Neonatal

Isolated optic nerve aplasia

Infancy, Neonatal

Isolated optic nerve hypoplasia

Isolated osteopoikilosis

Autosomal dominant

Adolescent, Adult, Childhood

Isolated partial cerebellar vermis agenesis

Isolated partial vaginal agenesis

Isolated patella aplasia/hypoplasia

Autosomal dominant

Infancy, Neonatal

Isolated permanent neonatal diabetes mellitus

Autosomal dominant, Autosomal recessive

Antenatal, Infancy, Neonatal

Isolated polycystic liver disease

Autosomal dominant, Not applicable

Adult

Isolated posterior meningocele

Multigenic/multifactorial, Not applicable

Infancy, Neonatal

Isolated primary pigmented nodular adrenocortical disease

Isolated proximal femoral focal deficiency

Neonatal

Isolated pulmonary capillaritis

Not applicable

Childhood

Isolated punctate palmoplantar keratoderma

Autosomal dominant

Isolated pyloric duplication

Not applicable

Neonatal

Isolated radial hemimelia

Multigenic/multifactorial, X-linked recessive

Antenatal, Infancy, Neonatal

Isolated radio-ulnar synostosis

Unknown

Childhood, Infancy

Isolated rare lymphatic malformation

Not applicable

Infancy, Neonatal

Isolated right ventricular hypoplasia

Autosomal recessive, Not applicable

Infancy, Neonatal

Isolated sedoheptulokinase deficiency

Autosomal recessive

Antenatal, Neonatal

Isolated small intestine duplication

Not applicable

Infancy, Neonatal

Isolated splenic vein thrombosis

Adult, Elderly

Isolated splenogonadal fusion

No data available

Antenatal, Neonatal

Isolated split hand-split foot malformation

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal