Early-onset immune dysregulation due to DOCK11 complete deficiency

X-linked recessive

Childhood, Infancy

Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency

X-linked recessive

Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome

Autosomal recessive

Early-onset myopathy with fatal cardiomyopathy

Autosomal recessive

Infancy, Neonatal

Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome

Autosomal recessive

Infancy, Neonatal

Early-onset obesity-hyperphagia-severe developmental delay syndrome

Autosomal dominant

Early-onset parkinsonism-intellectual disability syndrome

X-linked recessive

Infancy

Early-onset progressive encephalopathy with migrant continuous myoclonus

Unknown

Childhood

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Autosomal recessive

Infancy, Neonatal

Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome

Autosomal recessive

No data available

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive

Childhood

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive

Childhood

Eastern equine encephalitis

Not applicable

All ages

Eating reflex epilepsy

All ages

Ebola hemorrhagic fever

Not applicable

All ages

Ectodermal dysplasia-skin fragility syndrome

Autosomal recessive

Infancy, Neonatal

Ectopia lentis-chorioretinal dystrophy-myopia syndrome

Autosomal recessive

Infancy, Neonatal

Ectopic aldosterone-producing tumor

Not applicable

All ages

Ehlers-Danlos/osteogenesis imperfecta syndrome

Autosomal dominant

Infancy, Neonatal

Ehrlichiosis

All ages

Elastoderma

Not applicable

Adolescent, Adult

Elastofibroma dorsi

Not applicable

Adult

Elastoma

Not applicable

Childhood

Elastosis perforans serpiginosa

All ages