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LEUDEN
MCID: LKN030
MIFTS: 15
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Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome (LEUDEN)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...
MalaCards integrated aliases for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:
Name: Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome
56
6
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy progressive disorder de novo mutation episodic neurologic regression is associated with fever or illness Classifications: |
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OMIM :
56
Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome (LEUDEN) is characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Many patients have seizures. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive (summary by Mao et al., 2020). (618877)
MalaCards based summary : Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome, is also known as leuden syndrome. An important gene associated with Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome is EIF2AK2 (Eukaryotic Translation Initiation Factor 2 Alpha Kinase 2). Affiliated tissues include brain and spinal cord. |
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Symptoms & Phenotypes for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618877 |
Drugs & Therapeutics for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic...
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MalaCards organs/tissues related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:40
Brain,
Spinal Cord
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Articles related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:
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Genes related to Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome:6
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Search
GEO
for disease gene expression data for Leukoencephalopathy, Developmental Delay, and Episodic Neurologic Regression Syndrome.
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