- E3 deficiency - See Dihydrolipoamide dehydrogenase deficiency
- E3-deficient maple syrup urine disease - See Dihydrolipoamide dehydrogenase deficiency
- EA syndrome - See Episodic ataxia
- EA2 - See Episodic ataxia with nystagmus
- EAF
- Eagle syndrome
- Eagle-Barrett syndrome - See Prune belly syndrome
- Eagle's syndrome - See Eagle syndrome
- Eales disease
- EAOH - See Ataxia with oculomotor apraxia type 1
- Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis - See Congenital contractural arachnodactyly
- Ear deformity and conductive hearing loss - See Conductive deafness with malformed external ear
- Ear deformity characterized by an abnormal development of the helix, anthelix, and scaphoid fossa - See Morel's ear
- Ear, patella, short stature syndrome - See Meier-Gorlin syndrome
- Early balding, patella luxation, acromicria and hypogonadism - See Scholte syndrome
- Early cutaneous photosensitivity and severe colitis - See Cutaneous photosensitivity and colitis, lethal
- Early Infantile Epileptic Encephalopathy
- Early Infantile Epileptic Encephalopathy 12
- Early infantile epileptic encephalopathy 14 - See Malignant migrating partial seizures of infancy
- Early infantile epileptic encephalopathy 18
- Early infantile epileptic encephalopathy 20 - See Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- Early infantile epileptic encephalopathy 25
- Early infantile epileptic encephalopathy 26
- Early infantile epileptic encephalopathy 4
- Early infantile epileptic encephalopathy-10 - See Early Infantile Epileptic Encephalopathy
- Early infantile epileptic encephalopathy-13 - See SCN8A encephalopathy
- Early infantile epileptic encephalopathy-17 - See GNAO1 encephalopathy
- Early infantile epileptic encephalopathy-2 - See CDKL5 deficiency disorder
- Early infantile epileptic encephalopathy-50 - See CAD-CDG
- Early infantile epileptic encephalopathy-64
- Early onset lymphedema - See Milroy disease
- Early onset torsion dystonia - See DYT-TOR1A
- Early onset tylosis (type B) - See Tylosis
- Early urethral obstruction sequence - See Urethral obstruction sequence
- Early-onset anterior polar cataract
- Early-onset anterior subcapsular cataract - See Early-onset anterior polar cataract
- Early-onset ataxia with oculomotor apraxia and hypoalbuminemia - See Ataxia with oculomotor apraxia type 1
- Early-onset autosomal dominant Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
- Early-onset cerebellar ataxia with hypoalbuminemia - See Ataxia with oculomotor apraxia type 1
- Early-onset familial autosomal dominant Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
- Early-onset familial form of Alzheimer disease - See Early-onset, autosomal dominant Alzheimer disease
- Early-onset generalized dystonia - See DYT-TOR1A
- Early-onset multiple carboxylase deficiency - See Holocarboxylase synthetase deficiency
- Early-onset myopathy, areflexia, respiratory distress and dysphagia
- Early-onset Parkinson disease - See Autosomal recessive juvenile Parkinson disease
- Early-onset parkinsonism-intellectual disability syndrome
- Early-onset primary dystonia - See DYT-TOR1A
- Early-onset progressive cerebellar ataxia dystonia spasticity and intellectual decline - See Karak syndrome
- Early-onset regressive form of metaphyseal dysplasia - See Metaphyseal anadysplasia
- Early-Onset Torsion Dystonia - See DYT-TOR1A
- Early-onset vitelliform macular dystrophy - See Best vitelliform macular dystrophy
- Early-onset zonular cataract
- Early-onset, autosomal dominant Alzheimer disease
- Ears prominent and constricted - See Auriculo-condylar syndrome
- EAST syndrome - See SeSAME syndrome
- Eastern equine encephalitis
- Eastman Bixler syndrome - See Faciocardiorenal syndrome
- EATCL - See Enteropathy-associated T-cell lymphoma
- Eaton Lambert syndrome - See Lambert Eaton myasthenic syndrome
- EB - See Epidermolysis bullosa
- EB acquisita - See Epidermolysis bullosa acquisita
- EB progressive - See Junctional epidermolysis bullosa
- EBA - See Epidermolysis bullosa acquisita
- EBLA - See Epidermolysis bullosa, lethal acantholytic
- EBM - See Bullous dystrophy hereditary macular type
- Ebola virus disease
- EBS with mottled pigmentation - See Epidermolysis bullosa simplex with mottled pigmentation
- EBS, generalized - See Epidermolysis bullosa simplex, generalized
- EBS-DM - See Epidermolysis bullosa simplex, Dowling-Meara type
- EBS-K - See Epidermolysis bullosa simplex, generalized
- EBS-loc - See Epidermolysis bullosa simplex, localized
- EBS-MD - See Epidermolysa bullosa simplex with muscular dystrophy
- EBS-MP - See Epidermolysis bullosa simplex with mottled pigmentation
- EBS-OG - See Epidermolysis bullosa simplex, Ogna type
- Ebstein anomaly - See Ebstein's anomaly
- Ebstein's anomaly
- Ebstein's malformation - See Ebstein's anomaly
- EBV infection, severe, susceptibility to - See X-linked lymphoproliferative syndrome
- EBVS - See X-linked lymphoproliferative syndrome
- Eccentrochondrodysplasia
- ECCL - See Encephalocraniocutaneous lipomatosis
- Eccrine Acrospiroma - See Acrospiroma
- Eccrine mucinous carcinoma
- Eccrine porocarcinoma
- Eccrine porocarcinoma of skin - See Eccrine porocarcinoma
- Eccrine spiradenoma - See Benign eccrine spiradenoma
- Eccrine spiradenoma, benign - See Benign eccrine spiradenoma
- Eccrine spiradenoma, malignant - See Malignant eccrine spiradenoma
- ECD - See Erdheim-Chester disease
- Echinococcosis - See Alveolar echinococcosis
- ECHS1D - See Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
- Eclampsia
- Ectasia or varix of the vein of Galen - See Vein of Galen aneurysm
- Ectasic coloboma - See Morning glory syndrome
- Ectodermal dysplasia
- Ectodermal dysplasia - cataracts - kyphoscoliosis - See Arthrogryposis and ectodermal dysplasia
- Ectodermal dysplasia - skin fragility syndrome - See Ectodermal dysplasia skin fragility syndrome
- Ectodermal dysplasia 1 - See X-linked hypohidrotic ectodermal dysplasia
- Ectodermal dysplasia alopecia preaxial polydactyly
- Ectodermal dysplasia and cerebellar ataxia - See Cerebellar ataxia ectodermal dysplasia
- Ectodermal dysplasia anhidrotic - See Hypohidrotic ectodermal dysplasia
- Ectodermal dysplasia arthrogryposis diabetes mellitus
- Ectodermal dysplasia Bartalos type
- Ectodermal dysplasia Berlin type
- Ectodermal dysplasia blindness
- Ectodermal dysplasia hypohidrotic autosomal dominant - See Hypohidrotic ectodermal dysplasia autosomal dominant
- Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia - See Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
- Ectodermal dysplasia intellectual disability CNS malformation
- Ectodermal dysplasia Margarita island type - See Bustos Simosa Pinto Cisternas syndrome
- Ectodermal dysplasia Margarita type
- Ectodermal dysplasia neurosensory deafness
- Ectodermal dysplasia osteosclerosis - See Cote Katsantoni syndrome
- Ectodermal dysplasia skin fragility syndrome
- Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract - SeeArthrogryposis and ectodermal dysplasia
- Ectodermal dysplasia trichoodontoonychial type
- Ectodermal dysplasia type 4 - See Bustos Simosa Pinto Cisternas syndrome
- Ectodermal dysplasia with corkscrew hairs - See Trueb Burg Bottani syndrome
- Ectodermal dysplasia with natal teeth Turnpenny type
- Ectodermal dysplasia, anhidrotic, with cleft lip/palate - See Rapp-Hodgkin syndrome
- Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly - See Zlotogora syndrome
- Ectodermal dysplasia, ectrodactyly, and macular dystrophy - See EEM syndrome
- Ectodermal dysplasia, hidrotic - See Clouston syndrome
- Ectodermal dysplasia, hidrotic, Christianson-Fourie type
- Ectodermal dysplasia, hypohidrotic - See Hypohidrotic ectodermal dysplasia
- Ectodermal dysplasia, hypohidrotic, with acanthosis nigricans - See Lelis syndrome
- Ectodermal dysplasia, hypohidrotic, with immune deficiency - See Hypohidrotic ectodermal dysplasia with immune deficiency
- Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
- Ectodermal dysplasia-skin fragility syndrome - See Ectodermal dysplasia skin fragility syndrome
- Ectomesenchymoma - See Malignant ectomesenchymoma
- Ectopia lentis chorioretinal dystrophy myopia - See Noble Bass Sherman syndrome
- Ectopia lentis syndrome - See Isolated ectopia lentis
- Ectopia lentis, isolated autosomal recessive
- Ectopia pupillae
- Ectopic ACTH syndrome - See Cushing's syndrome
- Ectopic adrenocorticotropic hormone syndrome - See Cushing's syndrome
- Ectopic geographic tongue - See Geographic tongue - not a rare disease
- Ectopic neurohypophysis - See Pituitary stalk interruption syndrome
- Ectopic nipple - See Supernumerary nipple - not a rare disease
- Ectopic ossification familial type - See Progressive osseous heteroplasia
- Ectopic pregnancy
- Ectrodactyly - See Split hand foot malformation
- Ectrodactyly cardiopathy dysmorphism
- Ectrodactyly of lower limbs, congenital heart defect and characteristic facies - See Ectrodactyly cardiopathy dysmorphism
- Ectrodactyly polydactyly
- Ectrodactyly spina bifida cardiopathy - See Kasznica Carlson Coppedge syndrome
- Ectrodactyly with aplasia of long bones - See Cleft hand absent tibia
- Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum - See Saal Bulas syndrome
- Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery - See Kasznica Carlson Coppedge syndrome
- Ectrodactyly-cleft lip/palate syndrome - See EEC syndrome
- Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate - See EEC syndrome
- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome - See EEC syndrome
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome - See EEC syndrome
- Ectropion inferior cleft lip and or palate
- ECYT1 - See Primary familial and congenital polycythemia
- Eczema thrombocytopenia immunodeficiency syndrome - See Wiskott Aldrich syndrome
- ED syndrome - See Ehlers-Danlos syndromes
- ED2 - See Clouston syndrome
- ED4 - See Bustos Simosa Pinto Cisternas syndrome
- EDA - See Hypohidrotic ectodermal dysplasia
- Edema of the optic disc - See Papilledema
- Edinburgh malformation syndrome
- EDM - See Multiple epiphyseal dysplasia
- EDM1 - See Multiple epiphyseal dysplasia 1
- EDM2 - See Multiple epiphyseal dysplasia 2
- EDM3 - See Multiple epiphyseal dysplasia 3
- EDM4 - See Multiple epiphyseal dysplasia 4
- EDM5 - See Multiple epiphyseal dysplasia 5
- EDMD - See Emery-Dreifuss muscular dystrophy
- EDMD1 - See Emery-Dreifuss muscular dystrophy, X-linked
- EDS - See Ehlers-Danlos syndromes
- EDS 11 (formerly) - See Familial joint instability syndrome
- EDS 6 (formerly) - See Kyphoscoliotic Ehlers-Danlos syndrome
- EDS due to TNX deficiency - See Classical-like Ehlers-Danlos syndrome
- EDS IV - See Vascular Ehlers-Danlos syndrome
- EDS IV (formerly) - See Vascular Ehlers-Danlos syndrome
- EDS IX (formerly) - See Occipital horn syndrome
- EDS type 4 - See Vascular Ehlers-Danlos syndrome
- EDS type 4 (formerly) - See Vascular Ehlers-Danlos syndrome
- EDS VIA - See Kyphoscoliotic Ehlers-Danlos syndrome
- EDS VIB (formerly) - See Brittle cornea syndrome
- EDS VIII - See Periodontal Ehlers-Danlos syndrome
- EDS VIII (formerly) - See Periodontal Ehlers-Danlos syndrome
- EDS, cardiac valvular type - See Cardiac-Valvular Ehlers-Danlos syndrome
- EDS, classic-like type - See Classical-like Ehlers-Danlos syndrome
- EDS, kyphoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
- EDS, oculoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
- EDS10 (formerly) - See Ehlers-Danlos syndrome, dysfibronectinemic type
- EDS3 (formerly) - See Hypermobile Ehlers-Danlos syndrome
- EDS4 (formerly) - See Vascular Ehlers-Danlos syndrome
- EDS7A (formerly) - See Arthrochalasia Ehlers-Danlos syndrome
- EDS8 (formerly) - See Periodontal Ehlers-Danlos syndrome
- Edström Myopathy - See Hereditary proximal myopathy with early respiratory failure
- Edwards Patton Dilly syndrome - See Nephropathy, deafness, and hyperparathyroidism
- Edwards syndrome - See Trisomy 18
- EEC - See Exstrophy-epispadias complex
- EEC syndrome
- EEE - See Eastern equine encephalitis
- EEM syndrome
- EEOC - See CHD2 myoclonic encephalopathy
- EF - See Eosinophilic fasciitis
- EFMR - See PCDH19-related female-limited epilepsy
- Egg shaped pupils
- EGPA - See Eosinophilic granulomatosis with polyangiitis
- EHK - See Epidermolytic ichthyosis
- Ehlers Danlos syndrome - See Ehlers-Danlos syndromes
- Ehlers Danlos syndrome, arterial type - See Vascular Ehlers-Danlos syndrome
- Ehlers Danlos syndrome, ecchymotic type - See Vascular Ehlers-Danlos syndrome
- Ehlers Danlos syndrome, Sack-Barabas type - See Vascular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome due to tenascin-X deficiency - See Classical-like Ehlers-Danlos syndrome
- Ehlers-danlos syndrome oculoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 1 (formerly) - See Classical Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 10 (formerly) - See Ehlers-Danlos syndrome, dysfibronectinemic type
- Ehlers-Danlos syndrome type 2 (formerly) - See Classical Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 3 (formerly) - See Hypermobile Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 4 - See Vascular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 4 (formerly) - See Vascular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 6 (formerly) - See Kyphoscoliotic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 6A - See Kyphoscoliotic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 6A (formerly) - See Kyphoscoliotic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 6B (formerly) - See Brittle cornea syndrome
- Ehlers-Danlos syndrome type 7A (formerly) - See Arthrochalasia Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 7C (formerly) - See Dermatosparaxis Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 8 - See Periodontal Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type 8 (formerly) - See Periodontal Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type IV - See Vascular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome type IV (formerly) - See Vascular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality - See Ehlers-Danlos syndrome, dysfibronectinemic type
- Ehlers-Danlos syndrome, arthrochalasia type - See Arthrochalasia Ehlers-Danlos syndrome
- EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM - See Cardiac-Valvular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, cardiac valvular type - See Cardiac-Valvular Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classic type - See Classical Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, classic-like type - See Classical-like Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, dermatosparaxis type - See Dermatosparaxis Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, dysfibronectinemic type
- Ehlers-Danlos syndrome, hypermobility type - See Hypermobile Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, kyphoscoliosis type - See Kyphoscoliotic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, kyphoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, musculocontractural type - See Musculocontractural Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, occipital horn type (formerly) - See Occipital horn syndrome
- Ehlers-Danlos syndrome, oculoscoliotic type - See Kyphoscoliotic Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, periodontitis type - See Periodontal Ehlers-Danlos syndrome
- EHLERS-DANLOS SYNDROME, PERIODONTOSIS TYPE - See Periodontal Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, progeroid type (former) - See Spondylodysplastic Ehlers-Danlos syndrome
- Ehlers-danlos syndrome, type 11 (formerly) - See Familial joint instability syndrome
- Ehlers-Danlos syndrome, type VIII (formerly) - See Periodontal Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, type X (formerly) - See Ehlers-Danlos syndrome, dysfibronectinemic type
- Ehlers-Danlos syndrome, vascular type - See Vascular Ehlers-Danlos syndrome
- Ehlers-Danlos syndromes
- Ehrlichiosis
- Ehrmann-Sneddon syndrome - See Sneddon syndrome
- EIEE10 - See Early Infantile Epileptic Encephalopathy
- EIEE12 - See Early Infantile Epileptic Encephalopathy 12
- EIEE13 - See SCN8A encephalopathy
- EIEE14 - See Malignant migrating partial seizures of infancy
- EIEE25 - See Early infantile epileptic encephalopathy 25
- EIEE26 - See Early infantile epileptic encephalopathy 26
- EIEE4 - See Early infantile epileptic encephalopathy 4
- EIEE9 - See PCDH19-related female-limited epilepsy
- Eisenmenger syndrome
- EJM - See Juvenile myoclonic epilepsy
- EKV - See Erythrokeratodermia variabilis et progressiva
- EKVP - See Erythrokeratodermia variabilis et progressiva
- Elastoderma
- Elastoma intrapapillare perforans verruciformis - See Elastosis perforans serpiginosa
- Elastosis perforans serpiginosa
- Elattoproteus syndrome - See Macrocephaly mesodermal hamartoma spectrum
- Elective mutism
- Elejalde syndrome - See Acrocephalopolydactylous dysplasia
- Elephantiasis - See Lymphatic filariasis
- Elephantitis - See Lymphatic filariasis
- Elevated dark spiny papules on the face or trunk - See Trichostasis spinulosa
- Elizabethkingia anophelis infection
- Elliott Ludman Teebi syndrome
- Ellis Yale Winter syndrome
- Ellis-Van Creveld syndrome
- Elongated styloid process syndrome - See Eagle syndrome
- Elongated styloid process which causes cervico facial pain tinnitus and otalgia - See Eagle syndrome
- ELP2-related disorder - See Autosomal recessive intellectual disability 58
- Elsahy-Waters syndrome - See Brachioskeletogenital syndrome
- Elschnig syndrome - See Ectropion inferior cleft lip and or palate
- ELST - See Endolymphatic sac tumor
- EM - See Erythema multiforme
- EMA - See Glutaric acidemia type II
- Emanuel syndrome
- EMARDD - See Early-onset myopathy, areflexia, respiratory distress and dysphagia
- Emberger syndrome - See Deafness-lymphedema-leukemia syndrome
- Embolism, fibrocartilaginous - See Fibrocartilaginous embolism
- Embryofetopathy due to oral anticoagulant therapy - See Warfarin syndrome
- Embryonal carcinoma
- Embryonal rhabdomyosarcoma - See Rhabdomyosarcoma embryonal
- Embryonal sarcoma
- Embryonal tumor with abundant neuropil and true rosettes - See Embryonal tumor with multilayered rosettes
- Embryonal tumor with multilayered rosettes
- EMC - See Epithelial-myoepithelial carcinoma
- EME - See Ethylmalonic encephalopathy
- Emerinopathy
- Emery-Dreifuss muscular dystrophy
- Emery-Dreifuss muscular dystrophy, dominant type
- Emery-Dreifuss muscular dystrophy, X-linked
- Emery-Nelson syndrome - See Hand and foot deformity with flat facies
- EMG Syndrome - See Beckwith-Wiedemann syndrome
- Emotional incontinence - See Pseudobulbar affect - not a rare disease
- Emotional lability - See Pseudobulbar affect - not a rare disease
- EMPD - See Extramammary Paget disease
- Empeines - See Pinta
- Emphysema, congenital lobar - See Congenital lobar emphysema
- Empty scrotum - See Anorchia
- Empty sella syndrome
- Empty sella turcica - See Empty sella syndrome
- EMS - See Eosinophilia-myalgia syndrome
- En coup de sabre - See Linear scleroderma
- Enamel hypoplasia and hypocalcification with associated strikingly curly hair - See Tricho-dento-osseous syndrome
- Enamel hypoplasia cataract hydrocephaly
- Enamel hypoplasia X-linked - See Amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1
- Enamel hypoplasia, capsular cataracts, and ductal stenosis - See Seow Najjar syndrome
- Enamel hypoplasia, X-linked - See Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2
- Enamel renal syndrome - See Amelogenesis imperfecta nephrocalcinosis
- Enamel-renal syndrome - See Amelogenesis imperfecta hypoplastic type, IG
- Encephalitis lethargica
- Encephalitis periaxialis concentrica - See Tumefactive multiple sclerosis
- Encephalocele
- Encephalocele anencephaly
- Encephalocraniocutaneous lipomatosis
- Encephalofacial angiomatosis - See Sturge-Weber syndrome
- Encephalomeningocele - See Meningoencephalocele
- Encephalomyopathic mitochondrial DNA depletion syndrome-13 - See FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
- Encephalomyopathic type with renal tubulopathy - See RRM2B-related mitochondrial DNA depletion syndrome
- Encephalopathy due to GLUT1 deficiency - See Glucose transporter type 1 deficiency syndrome
- Encephalopathy due to prosaposin deficiency - See Sphingolipidosis
- Encephalopathy fatal infantile with mitochondrial respiratory chain defects - See Pontocerebellar hypoplasia type 6
- Encephalopathy fatal infantile with olivopontocerebellar hypoplasia - See Pontocerebellar hypoplasia type 4
- Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration
- Encephalopathy of childhood - See Lennox-Gastaut syndrome
- Encephalopathy recurrent of childhood
- Encephalopathy subacute spongiform Gerstmann-Straussler type - See Gerstmann-Straussler-Scheinker disease
- Encephalopathy with basal ganglia calcification - See Aicardi-Goutieres syndrome
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid - See Aicardi-Goutieres syndrome
- Encephalopathy, ethylmalonic - See Ethylmalonic encephalopathy
sábado, 26 de enero de 2019
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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