Phenotypes for disease #05786 (leukoencephalopathy (leukoencephalopathy))

44 entries on 1 page. Showing entries 1 - 44.
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AscendingPhenotype ID     
Diagnosis/Initial     
Diagnosis/Definite     
Phenotype details     
Inheritance     
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Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
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Individual ID     
0000232100 leukoencephalopathy LCC epileptic seizures; severe developmental delay Familial, autosomal recessive 11y - 56d epileptic seizures Johan den Dunnen 00306254
0000232101 leukoencephalopathy LCC 16y-deceased; significant developmental delay and seizures; progressive neurological decline Familial, autosomal recessive 16y - 1y significant developmental delay and seizures Johan den Dunnen 00306255
0000232102 leukoencephalopathy LCC abnormal head posture; unilateral pyramidal signs Familial, autosomal recessive 11y - 4y abnormal head posture Johan den Dunnen 00306256
0000232103 leukoencephalopathy LCC 32y-deceased; focal epileptic seizures; increasing spasticity; seizures; emotional lability Familial, autosomal recessive 32y - 12y focal epileptic seizures Johan den Dunnen 00306257
0000232104 leukoencephalopathy LCC failure to achieve motor milestones; progressive spasticity and dystonia with complete loss of speech Familial, autosomal recessive 22y - 2y failure to achieve motor milestones Johan den Dunnen 00306258
0000232105 leukoencephalopathy LCC unilateral tremor; 4 limb dystonia and severe cognitive impairment Familial, autosomal recessive 18y - 3y unilateral tremor Johan den Dunnen 00306259
0000232106 leukoencephalopathy LCC prolonged febrile seizures; progressive gait disturbance, ataxia, dysarthria, cognitive impairment Familial, autosomal recessive 19y - 2y prolonged febrile seizures Johan den Dunnen 00306260
0000232107 leukoencephalopathy LCC 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 Familial, autosomal recessive 15y - 5m identified as a neonate to have intracranial calcification. Presented age 5 months with focal epileptic seizures Johan den Dunnen 00306261
0000232108 leukoencephalopathy LCC progressive problems with schooling; progressive motor disorder with psychiatric features Familial, autosomal recessive 25y - >6y progressive problems with schooling Johan den Dunnen 00306262
0000232109 leukoencephalopathy LCC focal epileptic seizures; severe developmental delay Familial, autosomal recessive 20y - 18m focal epileptic seizures Johan den Dunnen 00306263
0000232110 leukoencephalopathy LCC abnormal gait; can walk with support; demonstrates extrapyramidal, spastic and ataxic signs Familial, autosomal recessive 34y - 9y abnormal gait Johan den Dunnen 00306264
0000232111 leukoencephalopathy LCC focal epileptic seizures; progressive neurological decline Familial, autosomal recessive 10y - 49d focal epileptic seizures Johan den Dunnen 00306265
0000232112 leukoencephalopathy LCC developmental delay; moderate developmental delay Familial, autosomal recessive 10y - <6m developmental delay Johan den Dunnen 00306266
0000232113 leukoencephalopathy LCC developmental delay; mild developmental delay Familial, autosomal recessive 8y - <18m developmental delay Johan den Dunnen 00306267
0000232114 leukoencephalopathy LCC developmental delay; mild developmental delay Familial, autosomal recessive 4y - <6m developmental delay Johan den Dunnen 00306268
0000232115 leukoencephalopathy LCC headaches and memory loss; progressive spasticity requiring wheelchair use Familial, autosomal recessive 36y - 25y headaches and memory loss Johan den Dunnen 00306269
0000232116 leukoencephalopathy LCC developmental delay; severe developmental delay with dystonic spastic disorder Familial, autosomal recessive 20y - <6m developmental delay Johan den Dunnen 00306270
0000232117 leukoencephalopathy LCC developmental delay; some intellectual delay with dystonia and spasticity works semi- independently although can walk with aids and Familial, autosomal recessive 19y - <6m developmental delay Johan den Dunnen 00306271
0000232118 leukoencephalopathy LCC 58y-deceased; progressive hemiparesis; progressive neurological decline in adulthood Familial, autosomal recessive 58y - 54y progressive hemiparesis Johan den Dunnen 00306272
0000232119 leukoencephalopathy LCC seizures; asymmetrical dystonia with some learning difficulties Familial, autosomal recessive 6y - <6m seizures Johan den Dunnen 00306273
0000232120 leukoencephalopathy LCC 13y-deceased; focal epileptic seizures; progressive neurological decline Familial, autosomal recessive 13y - 10m focal epileptic seizures Johan den Dunnen 00306274
0000232121 leukoencephalopathy LCC scan undertaken in absence of symptoms; minor learning problems and some subtle focal motor signs on examination Familial, autosomal recessive 11y - <5y scan undertaken in absence of symptoms Johan den Dunnen 00306275
0000232122 leukoencephalopathy LCC epileptic seizures; moderate developmental delay with focal neurological signs Familial, autosomal recessive 7y - 7m epileptic seizures Johan den Dunnen 00306276
0000232123 leukoencephalopathy LCC epileptic seizures; some intellectual delay and dyskinesia Familial, autosomal recessive 10y - 15m epileptic seizures Johan den Dunnen 00306277
0000232124 leukoencephalopathy LCC subtle delays in development; some behavioral issues, but otherwise intellectually and physically intact Familial, autosomal recessive 13y - <12m subtle delays in development Johan den Dunnen 00306278
0000232125 leukoencephalopathy LCC developmental delay; severe psychomotor delay Familial, autosomal recessive 9y - <6m developmental delay Johan den Dunnen 00306279
0000232126 leukoencephalopathy LCC 28y-deceased; dystonic quadriplegia; progressive neurological decline in adulthood Familial, autosomal recessive 28y - 3y dystonic quadriplegia Johan den Dunnen 00306280
0000232127 leukoencephalopathy LCC developmental delay; unable to walk due to spasticity. dysarthria. uses sign language Familial, autosomal recessive 8y - 9m developmental delay Johan den Dunnen 00306281
0000232128 leukoencephalopathy LCC developmental delay; severe developmental delay Familial, autosomal recessive 4y - <4m developmental delay Johan den Dunnen 00306282
0000232129 leukoencephalopathy LCC epileptic seizures; severe developmental delay Familial, autosomal recessive 6y - 2m epileptic seizures Johan den Dunnen 00306283
0000232130 leukoencephalopathy LCC motor deterioration with previous diagnosis of mild cerebral palsy; progressive motor deterioration with dysarthria Familial, autosomal recessive 16y - 12y motor deterioration with previous diagnosis of mild cerebral palsy Johan den Dunnen 00306284
0000232131 leukoencephalopathy LCC attention deficit on background of prematurity; cognitive slowing, tremor, ataxia and epilepsy Familial, autosomal recessive 13y - 7y attention deficit on background of prematurity Johan den Dunnen 00306285
0000232132 leukoencephalopathy LCC minor developmental problems (scanned in view of her sister’s diagnosis); stable with minimal features Familial, autosomal recessive 7y - 6y minor developmental problems (scanned in view of her sister’s diagnosis) Johan den Dunnen 00306286
0000232133 leukoencephalopathy LCC epileptic seizures; some intellectual delay with hemiparesis Familial, autosomal recessive 35y - 10y-20y epileptic seizures Johan den Dunnen 00306287
0000232134 leukoencephalopathy LCC epileptic seizures; no major deficits Familial, autosomal recessive 32y - 10y-20y epileptic seizures Johan den Dunnen 00306288
0000232135 leukoencephalopathy LCC developmental delay and monoparesis; mild hemiplegia Familial, autosomal recessive 5y - 18m developmental delay and monoparesis Johan den Dunnen 00306289
0000232136 leukoencephalopathy LCC developmental delay; moderate developmental delay Familial, autosomal recessive 2y - <6m developmental delay Johan den Dunnen 00306290
0000232137 leukoencephalopathy LCC ataxia; minor degree of major functional deficit ataxia and dysarthria but no Familial, autosomal recessive 54y - 50y ataxia Johan den Dunnen 00306291
0000232138 leukoencephalopathy LCC gait problems; mainly unilateral dystonia / spasticity Familial, autosomal recessive 17y - 3y gait problems Johan den Dunnen 00306292
0000232139 leukoencephalopathy LCC epileptic seizures; progressive motor disorder with psychiatric features Familial, autosomal recessive 9y - 6m epileptic seizures Johan den Dunnen 00306293
0000232140 leukoencephalopathy LCC gait problems; probably slowly progressive motor deterioration with learning difficulties Familial, autosomal recessive 10y - 10y gait problems Johan den Dunnen 00306294
0000282254 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 Familial, autosomal recessive 19y - - - Johan den Dunnen 00388714
0000296577 MR, Ataxia, Spastic Paraparesis Leukoencephalopathy Mental retardation progressive ataxia and spastic paraparesis Familial, autosomal recessive 20y 17y 11y - Sherifa Ahmed Hamed 00403922
0000350133 neurodegeneration POLG-related HP:0002352, HP:0002180 Isolated (sporadic) - - - - Marketa Wayhelova 00464071
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