Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects (MRFACD)

Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects(来自ICD-11)

别称:

Asadollahi-Rauch Syndrome

Mrfacd

Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects

Mental Retardation, Distinctive Facial Features with/without Cardiac Defects

Cardiac Anomalies - Developmental Delay - Facial Dysmorphism Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects, also known as asadollahi-rauch syndrome, is related to med13l haploinsufficiency syndrome. An important gene associated with Impaired Intellectual Development and Distinctive Facial Features with or Without Cardiac Defects is MED13L (Mediator Complex Subunit 13L). Affiliated tissues include heart, and related phenotypes are talipes equinovarus and transposition of the great arteries

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