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Term:
Leukoencephalopathy with Dystonia and Motor Neuropathy (DOID:9004065)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
dystonia +     
polyneuropathy +     
46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy  
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
adult-onset ataxia and polyneuropathy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
alcoholic neuropathy  
Amyotrophic Dystonic Paraplegia 
Bilateral Striatal Necrosis with Dystonia  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
childhood onset GLUT1 deficiency syndrome 2  
chronic polyneuropathy +  
COL4A1-related familial vascular leukoencephalopathy  
combined oxidative phosphorylation deficiency 12  
Cystic Leukoencephalopathy without Megalencephaly  
deafness-dystonia-optic neuronopathy syndrome  
Demyelinating Autoimmune Diseases, CNS +   
demyelinating polyneuropathy +   
dystonia 12  
dystonia 21 
DYSTONIA 28, CHILDHOOD-ONSET  
dystonia 5  
dystonia 9  
Dystonia with Cerebellar Atrophy 
Dystonia with Ringbinden 
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES  
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
focal dystonia +   
generalized dystonia +   
Hereditary Central Nervous System Demyelinating Diseases +   
hereditary sensory neuropathy +   
hypermanganesemia with dystonia +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
idiopathic progressive polyneuropathy 
Juvenile-Onset Dystonia  
Labrune Syndrome  
Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy 
Leber hereditary optic neuropathy and dystonia  
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Mitochondrial Dystonia  
multifocal dystonia +   
myoclonic dystonia +   
paraneoplastic polyneuropathy 
Parkinson's disease 14  
Parkinsonism-Dystonia, Infantile +   
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
PCWH syndrome  
PHARC syndrome  
POEMS syndrome 
Polyendocrine-Polyneuropathy Syndrome  
polyneuropathy in collagen vascular disease 
polyradiculoneuropathy +   
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
Posterior Leukoencephalopathy Syndrome  
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy 
Ribose 5-Phosphate Isomerase Deficiency  
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome  
Segawa Syndrome, Autosomal Recessive  
segmental dystonia +   
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
sensory peripheral neuropathy  
sepiapterin reductase deficiency  
Severe Infantile Axonal Neuropathy 
SIDDIQI SYNDROME  
spastic ataxia 3  
Tangier disease  
Telencephalic Leukoencephalopathy 
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)  
torsion dystonia 17 
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
vascular dementia +   
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   

Synonyms
Exact Synonyms: LKDMN ;   Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient ;   STEROL CARRIER PROTEIN 2 DEFICIENCY
Primary IDs: MESH:C566654
Alternate IDs: OMIM:613724 ;   RDO:0009956 ;   RDO:0014956

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.