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.
MONDO:0003847
hereditary disease
is_a
IDDCDF
related
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
exact
intellectual developmental disorder with cardiac defects and dysmorphic facies
exact