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syndrome","evidence":"PCS","frequency_raw":"13/24","hpo_id":"HP:0007045","is_excluded":false,"label":"Midline brain calcifications","onset_id":null,"reference":"PMID:1671808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"ffc04e6855b1414d8447e3dd4ea1b3b3f4ecdaf50137d8496749e1b5fb471dc0","raw":{"aspect":"P","body_system":"prenatal","disease_id":"OMIM:247200","disease_name":"Miller-Dieker lissencephaly syndrome","evidence":"PCS","frequency_raw":"6/20","hpo_id":"HP:0001561","is_excluded":false,"label":"Polyhydramnios","onset_id":null,"reference":"PMID:1671808","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/miller-dieker-syndrome\">Miller-Dieker syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>In the majority of cases, Miller-Dieker syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 17. This area of chromosome 17 is called the MDS critical region. Though the size of the deleted segment varies among affected individuals, it typically includes the PAFAH1B1 and YWHAE genes.</p><p>Researchers are working to identify all of the genes that contribute to the features of Miller-Dieker syndrome. They have determined that the loss of the PAFAH1B1 gene is responsible for the lissencephaly seen in people with this condition. The loss of the YWHAE gene is thought to increase the severity of lissencephaly in people with Miller-Dieker syndrome. The loss of additional genes in the MDS critical region likely contributes to the other features of Miller-Dieker syndrome.</p><p>In approximately 10 percent of people with the signs and symptoms of Miller-Dieker syndrome, the cause of the condition is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/miller-dieker-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Miller-Dieker syndrome?"},{"bodyHtml":"<p>People with Miller-Dieker syndrome often have distinctive facial features that include a prominent forehead; a sunken appearance in the middle of the face (midface hypoplasia); a small, upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip.  Some individuals with this condition also grow more slowly than their peers. Less often, affected individuals have heart problems, kidney abnormalities, or an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Because of these severe health issues, most individuals with Miller-Dieker syndrome do not survive beyond early childhood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/miller-dieker-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"miller-dieker-syndrome","sourceDocuments":[{"name":"Miller-Dieker syndrome","reviewed":"2024-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:20.830996+00:00","label":"Causes","pageSha256":"ad4165853fced110873f3353eedf404dc75f5e9d82c8b4d7c852b55dc80b7c35","sourceUrl":"https://medlineplus.gov/genetics/condition/miller-dieker-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/miller-dieker-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Miller-Dieker syndrome"},"schemaVersion":1}