Miller-Dieker lissencephaly syndrome
GPTKB entity
Statements (41)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
gptkb:nervous_system
brain |
| gptkbp:alsoKnownAs |
Miller-Dieker syndrome
MDLS |
| gptkbp:causedBy |
deletion of 17p13.3
|
| gptkbp:characterizedBy |
distinct facial features
seizures severe intellectual disability lissencephaly |
| gptkbp:diagnosedBy |
brain imaging
genetic testing |
| gptkbp:eponymOf |
Hillard Dieker
James Q. Miller |
| gptkbp:firstDescribed |
Hillard Dieker
James Q. Miller |
| gptkbp:hasFacialFeature |
prominent forehead
thin upper lip upturned nose widely spaced eyes small jaw |
| https://www.w3.org/2000/01/rdf-schema#label |
Miller-Dieker lissencephaly syndrome
|
| gptkbp:ICD-10_code |
Q04.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
PAFAH1B1 gene
YWHAE gene |
| gptkbp:OMIM |
247200
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
poor
|
| gptkbp:symptom |
hypotonia
spasticity developmental delay microcephaly feeding difficulties growth retardation |
| gptkbp:treatment |
supportive care
physical therapy seizure management |
| gptkbp:bfsParent |
gptkb:17p13.2
|
| gptkbp:bfsLayer |
7
|