Isolated cryptophthalmia

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Isolated cytochrome C oxidase deficiency

Autosomal recessive, Mitochondrial inheritance

Isolated delta-storage pool disease

Autosomal dominant, Autosomal recessive

Isolated distal symphalangism

Autosomal dominant

Infancy, Neonatal

Isolated duodenal duplication

Not applicable

Isolated ectopia lentis

Autosomal dominant, Autosomal recessive

All ages

Isolated epispadias

Multigenic/multifactorial

Antenatal, Infancy, Neonatal

Isolated exencephaly

Antenatal

Isolated familial medullary thyroid carcinoma

Autosomal dominant

Isolated female hypospadias

Neonatal

Isolated femoral agenesis/hypoplasia

Antenatal, Neonatal

Isolated fibular hemimelia

Not applicable

Antenatal

Isolated focal cortical dysplasia

All ages

Isolated focal cortical dysplasia type I

Isolated focal cortical dysplasia type II

Isolated focal cortical dysplasia type IIa

Not applicable

Isolated focal cortical dysplasia type IIb

Not applicable

Isolated focal cortical dysplasia type Ia

Not applicable

Isolated focal cortical dysplasia type Ib

Isolated focal cortical dysplasia type Ic

Isolated focal non-epidermolytic palmoplantar keratoderma

Autosomal dominant

Childhood

Isolated follicle stimulating hormone deficiency

Autosomal recessive

Adolescent, Adult

Isolated gallbladder duplication

Not applicable

Isolated gastric duplication

Not applicable

Adult, Childhood, Infancy, Neonatal