cardiac anomalies - developmental delay - facial dysmorphism syndrome

Findings

No curated finding names cardiac anomalies - developmental delay - facial dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal dominant syndromic intellectual disability
• cardiogenetic disease
• congenital nervous system disorder
• Mediator complex-related neurodevelopmental disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: cardiac anomalies - developmental delay - facial dysmorphism syndrome

Also called

Asadollahi-Rauch syndromeASRASdevelopmental delay-facial dysmorphism syndrome due to MED13L deficiencyimpaired intellectual development and distinctive facial features with or without cardiac defectsintellectual disability and distinctive facial features with or without cardiac defectsMED13L haploinsufficiency syndromeMED13L syndromeMED13L-related intellectual disabilitymental retardation and distinctive Facial features with or without Cardiac defectsMRFACD