Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.
This condition has no sub-types.