Dentin dysplasia type I

Autosomal dominant, Autosomal recessive

Childhood

Dentin dysplasia type II

Autosomal dominant

Dentinogenesis imperfecta type 2

Autosomal dominant

Childhood

Dentinogenesis imperfecta type 3

Autosomal dominant

Childhood

Developmental and speech delay due to SOX5 deficiency

Autosomal dominant, Not applicable

Infancy, Neonatal

Diffuse cutaneous systemic sclerosis

Multigenic/multifactorial, Not applicable

Adult

Digenic Alport syndrome

Autosomal dominant, Autosomal recessive

Dihydropteridine reductase deficiency

Autosomal recessive

Infancy, Neonatal

Distal renal tubular acidosis with anemia

Autosomal dominant

Infancy, Neonatal

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

Multigenic/multifactorial

Double outlet right ventricle with non-committed subpulmonary ventricular septal defect

Multigenic/multifactorial

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

Multigenic/multifactorial

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis

Multigenic/multifactorial

Double outlet right ventricle with subpulmonary ventricular septal defect

Multigenic/multifactorial

Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type

Antenatal

Early-onset anterior polar cataract

Autosomal dominant

Infancy, Neonatal

Early-onset familial hypoaldosteronism

Autosomal recessive

Adolescent, Childhood, Infancy, Neonatal

Early-onset idiopathic chronic pancreatitis

Not applicable

Early-onset lamellar cataract

Autosomal dominant

Early-onset nuclear cataract

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Early-onset partial cataract

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Early-onset posterior polar cataract

Autosomal dominant

Infancy, Neonatal

Early-onset posterior subcapsular cataract

Autosomal dominant, Autosomal recessive

Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency

Autosomal recessive