Miller-Dieker lissencephaly syndrome

Developmental and genetic diseases

17p13.3 GeneReviews Google OMIM PubMed

Miller-Dieker lissencephaly syndrome

*Gene map locus 17p13.3

MDLS

[Clinical features: type I lissencephaly; mental retardation; seizures; facial dysmorphism]

[Inheritance: autosomal dominant]


Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3	Miller-Dieker syndrome	Miller-Dieker syndrome
American Journal of Human Genetics	Neuroneonatology	Neuroneonatology


Abnormal development of the parieto-occipital and calcarine fissures in a 23-week fetus with Miller-Dieker syndrome	Abnormal development of the parieto-occipital and calcarine fissures in a 23-week fetus with Miller-Dieker syndrome	Lissencephaly associated with Miller-Dieker syndrome
RadioGraphics	RadioGraphics	RadioGraphics


Lissencephaly associated with Miller-Dieker syndrome	Lissencephaly associated with Miller-Dieker syndrome	Lissencephaly associated with Miller-Dieker syndrome
RadioGraphics	RadioGraphics	RadioGraphics


Lissencephaly associated with Miller-Dieker syndrome	Lissencephaly associated with Miller-Dieker syndrome
RadioGraphics	RadioGraphics

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Edited by Aldo Campana, March 14, 2010