Med13l Haploinsufficiency Syndrome (ASRAS)

Alias:

Developmental Delay-Facial Dysmorphism Syndrome Due to Med13l Deficiency

Cardiac Anomalies - Developmental Delay - Facial Dysmorphism Syndrome

Intellectual Disability and Distinctive Facial Features with or Without Cardiac Defects

Cardiac Anomalies-Developmental Delay-Facial Dysmorphism Syndrome

Med13l-Related Intellectual Disability Syndrome

Med13l-Related Intellectual Disability

Asadollahi-Rauch Syndrome

Med13l Syndrome

Mrfacd

Asras

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Med13l Haploinsufficiency Syndrome, also known as developmental delay-facial dysmorphism syndrome due to med13l deficiency, is related to syndromic intellectual disability and impaired intellectual development and distinctive facial features with or without cardiac defects. An important gene associated with Med13l Haploinsufficiency Syndrome is MED13L (Mediator Complex Subunit 13L). Affiliated tissues include heart and skin, and related phenotypes are global developmental delay and delayed speech and language development

Related ID：

MALACARDS：MD1003