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Term:megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
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Accession:DOID:0080317 term browser browse the term
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 HEPACAM on chromosome 11q24. (DO)
Synonyms:exact_synonym: MLC2B
 narrow_synonym: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH MENTAL RETARDATION
 primary_id: OMIM:613926
 alt_id: RDO:9000534
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megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hepacam hepatic and glial cell adhesion molecule JBrowse link 8 39,848,264 39,866,969 RGD:7240710
RGD:8554872

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  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 1
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Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation 1
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