OBO ID: DOID:0080318
Term Name: megalencephalic leukoencephalopathy with subcortical cysts 2A Search Ontology:
Synonyms:
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 HEPACAM on chromosome 11q24. (2)
References:
Ontology: Human Disease   (DOID:0080318)
OTHER megalencephalic leukoencephalopathy with subcortical cysts 2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A 613925
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None