OBO ID: DOID:0080316
Term Name: megalencephalic leukoencephalopathy with subcortical cysts 1 Search Ontology:
Synonyms:
  • leukoencephalopathy with swelling and cysts
  • vacuolating megalencephalic leukoencephalopathy with subcortical cysts
  • Van Der Knaap 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. https://www.ncbi.nlm.nih.gov/pubmed/21419380
References:
Ontology: Human Disease   ( DOID:0080316 )
Relationships
is a type of:
OTHER megalencephalic leukoencephalopathy with subcortical cysts 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MLC1 Megalencephalic leukoencephalopathy with subcortical cysts 1 604004
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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