Rare Disease Library

Dysraphism-cleft lip/palate-limb reduction defects syndrome

Medeira-Dennis-Donnai syndrome

Dyssegmental dysplasia-glaucoma syndrome

Dyssegmental dysplasia, Rolland-Desbuquois type

Dyssegmental dysplasia, Silverman-Handmaker type

Dysspondyloenchondromatosis

Dystonia 14

DYT14

Dystonia 16

DYT16 · Early-onset dystonia parkinsonism

Dystonia 28

DYT28 · KMT2B-related dystonia

Dystonia-aphonia syndrome

Dystonia-parkinsonism-hypermanganesemia syndrome

Dystrophic epidermolysis bullosa

DEB · Dermolytic epidermolysis bullosa

Dystrophic epidermolysis bullosa pruriginosa

DEB pruriginosa · DEB-Pr

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Ear-patella-short stature syndrome

Meier-Gorlin syndrome

Early infantile developmental and epileptic encephalopathy

Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

Early onset non-syndromic cataract

Early-onset anterior polar cataract

Early-onset anterior subcapsular cataract

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

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome

Early-onset autoinflammatory syndrome due to A20 haploinsufficiency

Early-onset AID due to HA20 · Early-onset autoinflammatory disorder due to HA20

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

Early-onset autosomal recessive TTN-related distal myopathy

Young or early adult onset recessive distal titinopathy

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease

Early-onset cerebellar ataxia with retained tendon reflexes

EOCA · EOCARR

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

Early-onset CID with low Ig due to dominant-negative IKAROS mutation · Early-onset CID with low Ig due to dominant-negative IKZF1 mutation

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

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

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

Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Early-onset familial hypoaldosteronism

Severe aldosterone synthase deficiency · Early-onset familial hyperreninemic hypoaldosteronism

Early-onset familial noncirrhotic portal hypertension

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

Early-onset idiopathic chronic pancreatitis

Early-onset immune dysregulation due to DOCK11 complete deficiency

Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency

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

Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency

Early-onset lamellar cataract

Early-onset myopathy with fatal cardiomyopathy

EOMFC · Salih myopathy

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

EMARDD

Early-onset nuclear cataract

Early-onset obesity-hyperphagia-severe developmental delay syndrome

OBHD

Early-onset parkinsonism-intellectual disability syndrome

Laxova-Opitz syndrome · Waisman syndrome

Early-onset partial cataract

Early-onset posterior polar cataract

Early-onset posterior subcapsular cataract

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Early-onset progressive encephalopathy with migrant continuous myoclonus

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS

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

Kugelberg-Welander disease · SMA

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

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