Nervous System Diseases | Page 4

1250 diseases found in 13 pages

C Diseases

Congenital muscular dystrophy type 1A Congenital muscular dystrophy with integrin alpha-7 deficiency Congenital myasthenic syndrome with episodic apnea Congenital rubella Congenital toxoplasmosis Continuous spike-wave during slow sleep syndrome Convulsions, benign familial infantile, 1 Corneal hypesthesia, familial Cornelia de Lange syndrome Corpus callosum agenesis double urinary collecting Cortical blindness-intellectual disability-polydactyly syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Corticobasal degeneration Costello syndrome Crane-Heise syndrome Craniofrontonasal dysplasia Craniopharyngioma Craniorachischisis Craniotelencephalic dysplasia CREST syndrome Creutzfeldt-Jakob disease Crome syndrome C syndrome Curry Jones syndrome Cylindrical spirals myopathy Cyprus facial neuromusculoskeletal syndrome Cytomegalic inclusion disease

D Diseases

D-2-hydroxyglutaric aciduria Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia Dandy-Walker like malformation with atrioventricular septal defect Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures Dandy-Walker malformation with postaxial polydactyly Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus Danon disease DDOST-CDG (CDG-Ir) DEAF1-associated disorders Deafness, dystonia, and cerebral hypomyelination Dementia familial British Dentatorubral-pallidoluysian atrophy Dermatomyositis Developmental dysphasia familial Dihydrolipoamide dehydrogenase deficiency Dihydropteridine reductase deficiency Distal myopathy with vocal cord weakness DOOR syndrome Dopamine beta hydroxylase deficiency Dopamine transporter deficiency syndrome Dopa-responsive dystonia DPAGT1-CDG (CDG-Ij) DPM1-CDG (CDG-Ie) DPM2-CDG DPM3-CDG (CDG-Io) Dravet syndrome Duane syndrome Dubowitz syndrome Duchenne muscular dystrophy Dykes Markes Harper syndrome Dysautonomia like disorder Dysequilibrium syndrome Dyskeratosis congenita Dyskeratosis congenita autosomal dominant Dyskeratosis congenita autosomal recessive Dyskeratosis congenita X-linked Dyssynergia cerebellaris myoclonica Dystonia 2, torsion, autosomal recessive DYT-PRKRA DYT-THAP1 DYT-TOR1A DYT-TUBB4A

E Diseases

Early Infantile Epileptic Encephalopathy Early infantile epileptic encephalopathy 25 Early-onset anterior polar cataract Early-onset, autosomal dominant Alzheimer disease Early-onset parkinsonism-intellectual disability syndrome Eastern equine encephalitis Empty sella syndrome Encephalitis lethargica Encephalocraniocutaneous lipomatosis Encephalopathy due to prosaposin deficiency Eosinophilic fasciitis Eosinophilic granulomatosis with polyangiitis Ependymoma Epidermolysa bullosa simplex with muscular dystrophy Epilepsy juvenile absence Epilepsy occipital calcifications Epilepsy progressive myoclonic type 3 Epilepsy with myoclonic-atonic seizures Epiphyseal dysplasia hearing loss dysmorphism Episodic ataxia Episodic ataxia with nystagmus Erythromelalgia Essential tremor

F Diseases

Fabry disease Facial onset sensory and motor neuronopathy Facioscapulohumeral muscular dystrophy Fallot complex with severe mental and growth retardation Familial amyloidosis, Finnish type Familial bilateral striatal necrosis Familial caudal dysgenesis Familial congenital palsy of trochlear nerve

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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