Intellectual developmental disorder with cardiac defects and dysmorphic facies

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.

Also known as: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome, intellectual developmental disorder with cardiac defects and dysmorphic facies, IDDCDF

0 clinical trials for this condition and its sub-types, 0 tagged with Intellectual developmental disorder with cardiac defects and dysmorphic facies itself.