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🧠 Neurological

Conditions affecting the brain, spinal cord, and nervous system.

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87 conditions found

ABetaA21G amyloidosis

ACys amyloidosis

Adolescent-onset epilepsy syndrome

Adult-onset Steinert myotonic dystrophy

Alexander disease type I

Alkaline ceramidase 3 deficiency

Alternating hemiplegia of childhood

Aniridia-cerebellar ataxia-intellectual disability syndrome

Aprosencephaly/atelencephaly spectrum

Autosomal dominant Charcot-Marie-Tooth disease type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant spastic ataxia type 1

Autosomal dominant spastic paraplegia type 29

Autosomal dominant spastic paraplegia type 9B

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive spastic paraplegia type 59

Basel-Vanagaite-Smirin-Yosef syndrome

Behavioral variant of frontotemporal dementia

Bilirubin encephalopathy

Body integrity dysphoria

Charcot-Marie-Tooth disease type 2P

Charcot-Marie-Tooth disease type 4C

Classic pilocytic astrocytoma

CNTNAP2-related developmental and epileptic encephalopathy

Congenital communicating hydrocephalus

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital oculomotor nerve palsy

Congenital or early infantile CACH syndrome

Craniopharyngioma

Distal hereditary motor neuropathy type 1

Distal spinal muscular atrophy type 3

Early-onset ataxia with dementia

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

Familial Alzheimer-like prion disease

Genetic dementia

Guillain-Barré syndrome

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Hypomyelination with atrophy of basal ganglia and cerebellum

Infantile epileptic spasms syndrome

Infantile mercury poisoning

Inflammatory and autoimmune disease with epilepsy

Isolated childhood apraxia of speech

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Klüver-Bucy syndrome

Lewis-Sumner syndrome

Mal de débarquement

Medullar disease

Metabolic diseases with epilepsy

Metabolic neurotransmission anomaly with epilepsy

Microphthalmia-brain atrophy syndrome

Myoclonic dystonia 15

Neonatal brainstem dysfunction

Neuro-ophthalmological disease

Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect

Non-specific autoimmune supratentorial encephalitis without characteristic antibodies

OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect

OBSOLETE: Infantile striatothalamic degeneration

OBSOLETE: Neuroepithelioma

OBSOLETE: Oculocerebral dysplasia

OBSOLETE: Rare sucking/swallowing disorder

Pediatric arterial ischemic stroke

Pituitary apoplexy

Progressive myoclonic epilepsy

Rare optic nerve disorder

Self-limited neonatal-infantile epilepsy

Serotonin syndrome

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Spastic paraplegia type 7

Spastic paraplegia-neuropathy-poikiloderma syndrome

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 14

SYNGAP1-related developmental and epileptic encephalopathy

Tropical spastic paraparesis

Unilateral hemispheric polymicrogyria

Variant of Guillain-Barré syndrome

X-linked Charcot-Marie-Tooth disease type 1

X-linked intellectual disability-hypotonia-movement disorder syndrome

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