Disease #05786 (leukoencephalopathy (leukoencephalopathy))

Official abbreviation leukoencephalopathy
Name leukoencephalopathy
OMIM ID -
Inheritance -
Individuals reported having this disease 44
Phenotype entries for this disease 44
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2020-07-13 16:56:51 +02:00 (CEST)
Date last edited N/A


Individuals

44 entries on 1 page. Showing entries 1 - 44.
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00306254 F172 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no Sweden east Africa - - - - leukoencephalopathy epileptic seizures; severe developmental delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306255 F278 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no United States white, Europe 16y - - - leukoencephalopathy 16y-deceased; significant developmental delay and seizures; progressive neurological decline SNORD118 SNORD118 2 1 Johan den Dunnen
00306256 F281 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no Estonia white, Europe - - - - leukoencephalopathy abnormal head posture; unilateral pyramidal signs SNORD118 SNORD118 2 1 Johan den Dunnen
00306257 F285 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no United Kingdom (Great Britain) white, Europe 32y - - - leukoencephalopathy 32y-deceased; focal epileptic seizures; increasing spasticity; seizures; emotional lability SNORD118 SNORD118 2 1 Johan den Dunnen
00306258 F309 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no United States white, Europe - - - - leukoencephalopathy failure to achieve motor milestones; progressive spasticity and dystonia with complete loss of speech SNORD118 SNORD118 2 1 Johan den Dunnen
00306259 F330 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy unilateral tremor; 4 limb dystonia and severe cognitive impairment SNORD118 SNORD118 2 1 Johan den Dunnen
00306260 F331_1 PubMed: Jenkinson 2016 family, 2 affected sibs, unaffected carrier parents F no Germany white, Europe - - - - leukoencephalopathy prolonged febrile seizures; progressive gait disturbance, ataxia, dysarthria, cognitive impairment SNORD118 SNORD118 2 2 Johan den Dunnen
00306261 F331_2 PubMed: Jenkinson 2016 sib2 F no Germany white, Europe 15y - - - leukoencephalopathy 15y-deceased; identified as a neonate to have intracranial calcification. Presented age 5 months with focal epileptic seizures; progressive dystonia, ataxia, spasticity, severe mental retardation SNORD118 SNORD118 2 1 Johan den Dunnen
00306262 F334 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy progressive problems with schooling; progressive motor disorder with psychiatric features SNORD118 SNORD118 2 1 Johan den Dunnen
00306263 F337 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no Italy white, Europe - - - - leukoencephalopathy focal epileptic seizures; severe developmental delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306264 F343 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no Netherlands white, Europe - - - - leukoencephalopathy abnormal gait; can walk with support; demonstrates extrapyramidal, spastic and ataxic signs SNORD118 SNORD118 2 1 Johan den Dunnen
00306265 F344 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M yes Somalia white, Europe - - - - leukoencephalopathy focal epileptic seizures; progressive neurological decline SNORD118 SNORD118 2 1 Johan den Dunnen
00306266 F362_1 PubMed: Jenkinson 2016 family, 3 affected sibs, unaffected carrier parents F no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy developmental delay; moderate developmental delay SNORD118 SNORD118 2 3 Johan den Dunnen
00306267 F362_2 PubMed: Jenkinson 2016 sib2 F no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy developmental delay; mild developmental delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306268 F362_3 PubMed: Jenkinson 2016 sib3 M no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy developmental delay; mild developmental delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306269 F414 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no Finland white, Europe - - - - leukoencephalopathy headaches and memory loss; progressive spasticity requiring wheelchair use SNORD118 SNORD118 2 1 Johan den Dunnen
00306270 F426_1 PubMed: Jenkinson 2016 family, 2 affected sibs, unaffected carrier parents M no United States white, Europe - - - - leukoencephalopathy developmental delay; severe developmental delay with dystonic spastic disorder SNORD118 SNORD118 2 2 Johan den Dunnen
00306271 F426_2 PubMed: Jenkinson 2016 sib2 M no United States white, Europe - - - - leukoencephalopathy developmental delay; some intellectual delay with dystonia and spasticity works semi- independently although can walk with aids and SNORD118 SNORD118 2 1 Johan den Dunnen
00306272 F433 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no United Kingdom (Great Britain) white, Europe 58y - - - leukoencephalopathy 58y-deceased; progressive hemiparesis; progressive neurological decline in adulthood SNORD118 SNORD118 2 1 Johan den Dunnen
00306273 F445 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy seizures; asymmetrical dystonia with some learning difficulties SNORD118 SNORD118 2 1 Johan den Dunnen
00306274 F446 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M yes United Kingdom (Great Britain) white, Europe 13y - - - leukoencephalopathy 13y-deceased; focal epileptic seizures; progressive neurological decline SNORD118 SNORD118 1 1 Johan den Dunnen
00306275 F454_1 PubMed: Jenkinson 2016 family, 2 affected sibs, unaffected carrier parents F no Canada white, Europe - - - - leukoencephalopathy scan undertaken in absence of symptoms; minor learning problems and some subtle focal motor signs on examination SNORD118 SNORD118 2 2 Johan den Dunnen
00306276 F454_2 PubMed: Jenkinson 2016 sib2 F no Canada white, Europe - - - - leukoencephalopathy epileptic seizures; moderate developmental delay with focal neurological signs SNORD118 SNORD118 2 1 Johan den Dunnen
00306277 F465 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no - mixed white, Europe - - - - leukoencephalopathy epileptic seizures; some intellectual delay and dyskinesia SNORD118 SNORD118 2 1 Johan den Dunnen
00306278 F521_1 PubMed: Jenkinson 2016 family, 2 affected sibs, unaffected carrier parents F no United States white, Europe - - - - leukoencephalopathy subtle delays in development; some behavioral issues, but otherwise intellectually and physically intact SNORD118 SNORD118 2 2 Johan den Dunnen
00306279 F521_2 PubMed: Jenkinson 2016 sib2 M no United States white, Europe - - - - leukoencephalopathy developmental delay; severe psychomotor delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306280 F551 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no Belgium white, Europe 28y - - - leukoencephalopathy 28y-deceased; dystonic quadriplegia; progressive neurological decline in adulthood SNORD118 SNORD118 2 1 Johan den Dunnen
00306281 F564 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no Belgium white, Europe - - - - leukoencephalopathy developmental delay; unable to walk due to spasticity. dysarthria. uses sign language SNORD118 SNORD118 2 1 Johan den Dunnen
00306282 F691 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy developmental delay; severe developmental delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306283 F730 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no Australia white, Europe - - - - leukoencephalopathy epileptic seizures; severe developmental delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306284 F766 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy motor deterioration with previous diagnosis of mild cerebral palsy; progressive motor deterioration with dysarthria SNORD118 SNORD118 2 1 Johan den Dunnen
00306285 F780_1 PubMed: Jenkinson 2016 family, 2 affected sibs, unaffected carrier parents F no United States white, Europe - - - - leukoencephalopathy attention deficit on background of prematurity; cognitive slowing, tremor, ataxia and epilepsy SNORD118 SNORD118 2 2 Johan den Dunnen
00306286 F780_2 PubMed: Jenkinson 2016 sib2 F no United States white, Europe - - - - leukoencephalopathy minor developmental problems (scanned in view of her sister’s diagnosis); stable with minimal features SNORD118 SNORD118 2 1 Johan den Dunnen
00306287 F819_1 PubMed: Jenkinson 2016 family, 2 affected sibs, unaffected carrier parents M no United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy epileptic seizures; some intellectual delay with hemiparesis SNORD118 SNORD118 2 2 Johan den Dunnen
00306288 F819_2 PubMed: Jenkinson 2016 sib2 F - United Kingdom (Great Britain) white, Europe - - - - leukoencephalopathy epileptic seizures; no major deficits SNORD118 SNORD118 2 1 Johan den Dunnen
00306289 F906 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no Italy white, Europe - - - - leukoencephalopathy developmental delay and monoparesis; mild hemiplegia SNORD118 SNORD118 2 1 Johan den Dunnen
00306290 F1127 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents M no France white, Europe - - - - leukoencephalopathy developmental delay; moderate developmental delay SNORD118 SNORD118 2 1 Johan den Dunnen
00306291 F1172 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no Germany white, Europe - - - - leukoencephalopathy ataxia; minor degree of major functional deficit ataxia and dysarthria but no SNORD118 SNORD118 2 1 Johan den Dunnen
00306292 F1288 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no United States white, Europe - - - - leukoencephalopathy gait problems; mainly unilateral dystonia / spasticity SNORD118 SNORD118 2 1 Johan den Dunnen
00306293 F1424 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no Germany white, Europe; north African - - - - leukoencephalopathy epileptic seizures; progressive motor disorder with psychiatric features SNORD118 SNORD118 2 1 Johan den Dunnen
00306294 F1445 PubMed: Jenkinson 2016 no family history, 1 affected, unaffected carrier parents F no United Kingdom (Great Britain) white, Europe; Asia - - - - leukoencephalopathy gait problems; probably slowly progressive motor deterioration with learning difficulties SNORD118 SNORD118 2 1 Johan den Dunnen
00388714 Fam4PatII1 PubMed: Hochbeg 2021 2-generation family, 3 affected (mother, son, daugther) , unaffected heterozygous carrier father M yes - - - - - - leukoencephalopathy leukoencephalopathy; 7y-psychotic disorder, autistic traits, learning disability; 8y-brief generalized seizures consisting of loss of consciousness and generalized stiffening body and extremities, EEG normal, received treatment with levetiracetam (good response; 19y-obesity, genu valgus, talus valgus, fundoscopy papillary pallor - KIAA0391 1 3 Johan den Dunnen
00403922 - - - M yes Egypt - - - - - leukoencephalopathy Mental retardation progressive ataxia and spastic paraparesis TUBB4A TUBB4A 1 1 Sherifa Ahmed Hamed
00464071 - - - F - - (not applicable) white - - - - leukoencephalopathy HP:0002352, HP:0002180 - POLG 1 1 Marketa Wayhelova
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