/intellectual developmental disorder with cardiac defects and dysmorphic facies

intellectual developmental disorder with cardiac defects and dysmorphic facies

Rare Disease

MONDO:0032672

Also Known As

TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndromeintellectual developmental disorder with cardiac defects and dysmorphic faciesIDDCDF

Definition

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.