Visualize Submit Comment

Metadata
ID	DOID:0080318
Name	megalencephalic leukoencephalopathy with subcortical cysts 2A
Definition	A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. https://www.ncbi.nlm.nih.gov/pubmed/21419380, https://www.ncbi.nlm.nih.gov/pubmed/20517947
Xrefs	MIM:613925
Parent Relationships	is_a megalencephalic leukoencephalopathy with subcortical cysts is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance