disease 2,819 words KG: ent-dise-acea0fb7 2026-03-26
kind:diseasesection:diseasesstate:published
Contents

Megalencephalic Leukodystrophy

Disease Info
Turkish populationHighest known prevalence, estimated at 1:10,000 to 1:20,000 due to a common MLC1 founder mutation
Japanese populationRelatively higher prevalence with multiple documented founder mutations
Palestinian populationNotable cluster of cases with specific HEPACAM mutations[@ikehara2023]
Agarwal community in IndiaFounder mutation identified in the MLC1 gene
DatabasesOMIMOrphanetClinicalTrialsPubMed

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