Dyssegmental dysplasia, Rolland-Desbuquois type

Antenatal, Neonatal

Dyssegmental dysplasia, Silverman-Handmaker type

Autosomal recessive

Antenatal, Neonatal

Dysspondyloenchondromatosis

Autosomal dominant, Not applicable

Infancy, Neonatal

Dystonia 16

Autosomal recessive

Childhood, Infancy

Dystonia 28

Autosomal dominant

Childhood, Infancy

Dystonia-aphonia syndrome

Autosomal dominant

Adolescent, Adult, Childhood, Infancy

Dystonia-parkinsonism-hypermanganesemia syndrome

Autosomal recessive

Infancy

Dystrophic epidermolysis bullosa

Autosomal dominant, Autosomal recessive

Infancy, Neonatal

Dystrophic epidermolysis bullosa pruriginosa

Autosomal dominant, Autosomal recessive

Childhood

EAST syndrome

Autosomal recessive

Infancy, Neonatal

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

Autosomal recessive

Childhood

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

EEC syndrome

Autosomal dominant

Antenatal, Neonatal

EEM syndrome

Autosomal recessive

Neonatal

EGF-related primary hypomagnesemia with intellectual disability

Childhood, Infancy

EMILIN-1-related connective tissue disease

Autosomal dominant

Adult

EN1-related dorsoventral syndrome

Neonatal

EPHB4-related capillary malformation-arteriovenous malformation

Autosomal dominant