Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type (MRXSLF)

Alias:

Lujan-Fryns Syndrome

X-Linked Intellectual Disability with Marfanoid Habitus

Mrxslf

Mental Retardation, X-Linked, with Marfanoid Habitus, 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type, also known as lujan-fryns syndrome, is related to lujan syndrome and syndromic x-linked intellectual disability 14. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type is MED12 (Mediator Complex Subunit 12). Affiliated tissues include heart and brain, and related phenotypes are macrocephaly and intellectual disability

Related ID：

MALACARDS：INT372

OMIM：309520

MESH：D038901