Lujan Syndrome (LFS)

Alias:
X-Linked Intellectual Deficit with Marfanoid Habitus
Mental Retardation, X-Linked, with Marfanoid Habitus
X-Linked Mental Retardation with Marfanoid Habitus
Mental Retardation, X Linked, Marfanoid Habitus
Xlmr with Marfanoid Features
Lujan-Fryns Syndrome
Lfs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lujan Syndrome, also known as x-linked intellectual deficit with marfanoid habitus, is related to li-fraumeni syndrome and syndromic x-linked intellectual disability 14. An important gene associated with Lujan Syndrome is MED12 (Mediator Complex Subunit 12). Affiliated tissues include heart and brain.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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1
4
3

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
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Publications
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References Literature

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IF
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