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| Term | megalencephalic leukoencephalopathy with subcortical cysts 1 | ID (Ontology) | DOID:0080316 (Human Disease) |
| Definition | A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. | ||
| Also Known As | "leukoencephalopathy with swelling and cysts" ; "Van Der Knaap disease" | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease_________________________________ leukodystrophy | |__megalencephalic leukoencephalopathy with subcortical cysts__| megalencephalic leukoencephalopathy with subcortical cysts 1 |
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| Is a |
autosomal recessive disease megalencephalic leukoencephalopathy with subcortical cysts |
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External Crossreferences & Linkouts
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MESH:C536141 MIM:604004 SNOMEDCT_US_2023_03_01:703536004 UMLS_CUI:C1858854 |
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