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X-linked mental retardation with marfanoid habitus syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
MED12
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
Mediator complex, subunit Med12, catenin-binding
Mediator complex, subunit Med12, LCEWAV-domain
Mediator complex, subunit Med12
embryonic brain development
post-anal tail morphogenesis
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OMIM - Intellectual disability
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Literature
Most Relevant Literature
Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the L…
Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.
Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.
Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.
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There were no clinical trials for X-linked mental retardation with marfanoid habitus syndrome
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