EPHB4-related lymphatic-related hydrops fetalis

Autosomal dominant

Antenatal

EVEN-plus syndrome

Autosomal recessive

Antenatal

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

Infancy, Neonatal

Eales disease

Multigenic/multifactorial, Not applicable

Adolescent, Adult

Ear-patella-short stature syndrome

Autosomal dominant, Autosomal recessive

Antenatal, Neonatal

Early infantile developmental and epileptic encephalopathy

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

Neonatal

Early onset non-syndromic cataract

Autosomal dominant, Autosomal recessive, X-linked recessive

Infancy, Neonatal

Early-onset X-linked optic atrophy

X-linked recessive

Childhood

Early-onset anterior polar cataract

Autosomal dominant

Infancy, Neonatal

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

Autosomal dominant

Adolescent, Childhood, Infancy

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Autosomal dominant

Early-onset autosomal dominant Alzheimer disease

Autosomal dominant

Adult

Early-onset autosomal recessive TTN-related distal myopathy

Autosomal recessive

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

Autosomal recessive

Adolescent, Antenatal, Childhood

Early-onset cerebellar ataxia with retained tendon reflexes

Autosomal recessive

Adolescent, Adult, Childhood

Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation

Autosomal dominant

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Autosomal recessive

Neonatal

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Autosomal dominant

Childhood

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Autosomal recessive

Infancy

Early-onset familial hypoaldosteronism

Autosomal recessive

Adolescent, Childhood, Infancy, Neonatal

Early-onset generalized limb-onset dystonia

Autosomal dominant

Adolescent, Adult, Childhood

Early-onset idiopathic chronic pancreatitis

Not applicable

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