Cutis laxa

Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive

Deafness-onychodystrophy syndrome

Autosomal dominant, Autosomal recessive

Childhood

Diazoxide-resistant focal hyperinsulinism

All ages

Diffuse large B-cell lymphoma

Multigenic/multifactorial, Not applicable

Adult

Distal deletion 10p syndrome

Not applicable, Unknown

Childhood

Distomatosis

Not applicable

All ages

Dopa-responsive dystonia

Autosomal dominant, Autosomal recessive, Not applicable

Childhood

Drug- or toxin-induced pulmonary arterial hypertension

Multigenic/multifactorial

Adolescent, Adult, Childhood, Elderly

Duchenne and Becker muscular dystrophy

X-linked recessive

Adolescent, Adult, Childhood

Dystrophic epidermolysis bullosa

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Ehlers-Danlos syndrome

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Ependymal tumor

All ages

Epidermolysis bullosa simplex

Autosomal dominant, Autosomal recessive

Adolescent, Childhood, Infancy, Neonatal

Erythrokeratoderma variabilis progressiva

Childhood, Infancy, Neonatal

Familial hyperaldosteronism

Autosomal dominant

All ages

Familial partial lipodystrophy

Autosomal dominant, Autosomal recessive

Adolescent, Adult, Childhood, Elderly

Familial primary hyperparathyroidism

Autosomal dominant

Childhood

Frontonasal dysplasia

Not applicable

Antenatal, Neonatal

Frontotemporal dementia

Autosomal dominant

Adult

Functional variant of Guillain-Barré syndrome

Multigenic/multifactorial, Not applicable

All ages

GM2 gangliosidosis

Gestational trophoblastic neoplasm

Not applicable

Adult

Glial tumor

Glycogen storage disease due to phosphorylase kinase deficiency

Autosomal recessive, X-linked recessive

All ages