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Term:
megalencephalic leukoencephalopathy with subcortical cysts (DOID:0080315)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (3) Dog: (2) Squirrel: (2) Pig: (3)
Parent Terms Term With Siblings Child Terms
adrenoleukodystrophy +   
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Alexander Disease  
Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts 
Arachnoid Cysts +   
Bone Cysts +   
Branchioma 
breast cyst +  
Bronchogenic Cyst 
CADASIL +   
Canavan disease  
choledochal cyst +   
Colloid Cysts +  
Cystic Leukoencephalopathy without Megalencephaly  
Cystic Medial Necrosis of Aorta 
dermoid cyst +   
Dysmyelinating Leukodystrophy with Oligodontia 
Dysmyelination with Jaundice 
early infantile epileptic encephalopathy 39  
Ectodermal Dysplasia Adrenal Cyst 
Epidermal Cyst +  
Esophageal Cyst 
Follicular Cyst +   
Ganglion Cysts 
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
hypomyelinating leukodystrophy +   
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
Krabbe disease +   
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
leukoencephalopathy with vanishing white matter  
lymphocele +  
Mediastinal Cysts 
megalencephalic leukoencephalopathy with subcortical cysts +   
A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. (DO)
Megalencephaly with Dysmyelination 
meibomian cyst 
Mesenteric Cyst 
metachromatic leukodystrophy +   
Microphthalmia Associated with Colobomatous Cyst 
Mucocele +   
mucocele of salivary gland 
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
Optic Atrophy with Demyelinating Disease of CNS 
ovarian cyst +   
Pancreatic Cyst +   
parovarian cyst 
Pilonidal Sinus  
polycystic liver disease +   
Progressive Leukodystrophy, Early Childhood-Onset  
retinal vasculopathy with cerebral leukodystrophy  
Sener Syndrome 
spermatocele 
Synovial Cyst +  
Tarlov Cysts 
Thyroglossal Cyst +  
Urachal Cyst +  
Van der Woude syndrome +   

Synonyms
Exact Synonyms: LVM ;   VL ;   Van Der Knapp disease ;   infantile leukoencephalopathy and megalencephaly ;   leukoencephalopathy with swelling and a discrepantly mild course ;   leukoencephalopathy with swelling and cysts ;   megalencephalic leukodystrophy\\megalencephaly-cystic leukodystorphy syndrome ;   megalencephaly-cystic leukodystrophy ;   vacuolating leukoencephalopathy ;   vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Primary IDs: MESH:C536141
Alternate IDs: RDO:0001594
Xrefs: GARD:3445 ;   OMIM:PS604004 ;   ORDO:2478
Definition Sources: https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts

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