EBV-induced lymphoproliferative disease due to CD137 deficiency

Autosomal recessive

Childhood

EBV-induced lymphoproliferative disease due to CD70 deficiency

Autosomal recessive

Childhood, Infancy

EBV-induced lymphoproliferative disease due to PRKCD deficiency

Autosomal recessive

EBV-induced lymphoproliferative disease due to RASGRP1 deficiency

Autosomal recessive

EBV-induced lymphoproliferative disease due to TET2 deficiency

Autosomal recessive

Childhood

EDEM3-CDG

Autosomal recessive

EDICT syndrome

Autosomal dominant

Childhood, Infancy, Neonatal

EGF-related primary hypomagnesemia with intellectual disability

Childhood, Infancy

EMILIN-1-related connective tissue disease

Autosomal dominant

Adult

EPHB4-related lymphatic-related hydrops fetalis

Autosomal dominant

Antenatal

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

Infancy, Neonatal

Eales disease

Multigenic/multifactorial, Not applicable

Adolescent, Adult

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 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 generalized limb-onset dystonia

Autosomal dominant

Adolescent, Adult, Childhood