RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:
Megalencephalic Leukoencephalopathy with Subcortical Cysts 4
An autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Caused by homozygous mutation in the AQP4 gene on chromosome 18q11.
Synonyms:
exact_synonym:
MLC4; Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting