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megalencephalic leukoencephalopathy with subcortical cysts 2B
Summary
- Synonym
-
- megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
- Definition
- A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24.
- Super Class
- autosomal dominant disease megalencephalic leukoencephalopathy with subcortical cysts
External Links
- Disease Ontology
- DOID:0080317
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001829 | Foot polydactyly |
| HP:0000256 | Macrocephaly |
| HP:0002007 | Frontal bossing |
| HP:0001054 | Numerous nevi |
| HP:0006781 | Hurthle cell thyroid adenoma |
| HP:0000729 | Autistic behavior |
| HP:0001252 | Hypotonia |
| HP:0011800 | Midface retrusion |
| HP:0001249 | Intellectual disability |
| HP:0003196 | Short nose |
