Hereditary myopathy with early respiratory failure

Autosomal dominant

Adult

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Autosomal recessive

Childhood

Hereditary neurocutaneous malformation

Autosomal dominant

Childhood, Infancy

Hereditary neuroendocrine tumor of small intestine

Autosomal dominant

Hereditary neutrophilia

Autosomal dominant

All ages

Hereditary orotic aciduria

Autosomal recessive

Infancy, Neonatal

Hereditary painful callosities

Autosomal dominant

No data available

Hereditary papillary renal cell carcinoma

Autosomal dominant

Adult

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Autosomal dominant

Childhood

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Autosomal dominant

Infancy, Neonatal

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

Autosomal recessive

All ages

Hereditary pheochromocytoma-paraganglioma

Autosomal dominant

Childhood

Hereditary progressive cardiac conduction defect

Autosomal dominant

Adult

Hereditary progressive mucinous histiocytosis

Autosomal dominant

Childhood

Hereditary pulmonary alveolar proteinosis

Autosomal recessive

Adolescent, Adult, Childhood, Elderly, Infancy

Hereditary sclerosing poikiloderma, Weary type

Childhood

Hereditary sensorimotor neuropathy with hyperelastic skin

Autosomal dominant

All ages

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

Autosomal recessive

Infancy

Hereditary sensory and autonomic neuropathy type 1

Autosomal dominant

All ages

Hereditary sensory and autonomic neuropathy type 1B

Autosomal dominant

Adult

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive

Infancy, Neonatal

Hereditary sensory and autonomic neuropathy type 4

Autosomal recessive

Childhood, Infancy, Neonatal

Hereditary sensory and autonomic neuropathy type 5

Autosomal recessive

Infancy, Neonatal

Hereditary sensory and autonomic neuropathy type 6

Autosomal recessive

Infancy, Neonatal