disease 3,620 words KG: ent-dise-22d6caf0 2026-03-29
kind:diseasesection:diseasesstate:published
Contents

Miller-Dieker Syndrome

Disease Info
Location17p13.3
Protein functionRegulatory subunit of platelet-activating factor acetylhydrolase IB
RABEP1May modify phenotypic expression 11
Autosomal dominantSingle copy of deleted chromosome 17 is sufficient to cause disease
Genetic counselingRecommended for all families
Complete lissencephalyAbsent or nearly absent cortical gyration
Simplified sulcal patternOnly primary sulci present
Thickened cortex4-7 mm (normal: 2-3 mm)
DatabasesOMIMOrphanetClinicalTrialsPubMed

Knowledge Graph