Ramsay Hunt syndrome

Not applicable

All ages

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

Unknown

Childhood, Infancy

Rapid-onset dystonia-parkinsonism

Autosomal dominant, Not applicable

Adolescent, Adult, Childhood

Rapidly involuting congenital hemangioma

Not applicable

Antenatal

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked recessive

Childhood, Infancy

Rare adenocarcinoma of the breast

Adult

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant

Childhood

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive

Infancy, Neonatal

Rare carcinoma of pancreas

Not applicable

Adult

Rare congenital non-syndromic heart malformation

Rare cutaneous lupus erythematosus

Multigenic/multifactorial

All ages

Rare developmental defect during embryogenesis

Rare disease with Pierre Robin syndrome

Rare epithelial tumor of stomach

Multigenic/multifactorial, Not applicable

Adult

Rare familial disorder with hypertrophic cardiomyopathy

Autosomal dominant

Rare form of salmonellosis

Not applicable

All ages

Rare hereditary hemochromatosis

Autosomal dominant, Autosomal recessive

All ages

Rare inborn errors of metabolism

Rare isolated myopia

Autosomal dominant, Autosomal recessive

Rare lichen planus

All ages

Rare mitochondrial non-syndromic sensorineural deafness

Mitochondrial inheritance

Childhood, Infancy

Rare non surgically correctable form of primary aldosteronism

Autosomal dominant, Not applicable

Rare non-syndromic genetic deafness

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Rare non-syndromic intellectual disability

Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive

Childhood, Infancy