Rare Disease Library

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

Early-onset calcifying leukoencephalopathy-skeletal dysplasia

BANDDOS · Brain abnormalities-neurodegeneration-dysosteosclerosis disease

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 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

Eastern equine encephalitis

Eastern equine encephalomyelitis

EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature

Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature · Hemophagocytic lymphohistiocytosis

Encephalitis

Encephalitis lethargica

Von Economo encephalitis

Encephaloclastic disorder

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Encephalopathy due to mitochondrial and peroxisomal fission defect

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

Encephalopathy due to sulfite oxidase deficiency

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Episodic memory defect leukoencephalopathy

White matter hyperintensities-episodic memory defect leukoencephalopathy · Hippocampal memory defect leukoencephalopathy

Ethylmalonic encephalopathy

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome

Facial dysmorphism-corpus callosum hypoplasia-infantile epileptic encephalopathy

WWOX-related epileptic encephalopathy

Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome

MN1 C-terminal truncation syndrome · MCTT

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

Familial acute necrotizing encephalopathy

ADANE · Recurrent acute necrotizing encephalopathy

Familial encephalopathy with neuroserpin inclusion bodies

FENIB

Familial hyperthyroidism due to mutations in TSH receptor

Familial non-immune hyperthyroidism · Resistance to thyroid stimulating hormone

Familial porencephaly

Familial scaphocephaly syndrome

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Familial schizencephaly

FASTKD2-related infantile mitochondrial encephalomyopathy

Fatal infantile encephalopathy-pulmonary hypertension syndrome

Frontal encephalocele

Anterior encephalocele

Genetic susceptibility to infections due to particular pathogens

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

Glycine encephalopathy

NKA · Non-ketotic hyperglycinemia

Greig cephalopolysyndactyly syndrome

GCPS

Greig cephalopolysyndactyly-contiguous gene syndrome

GCP-CGS

Growth delay-hydrocephaly-lung hypoplasia syndrome

Game-Friedman-Paradice syndrome

Hemimegalencephaly

Unilateral megalencephaly

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

Hepatoencephalopathy due to COXPD1

Herpes simplex virus encephalitis

HSE · HSVE

Holoprosencephaly

HPE