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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
exact
aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
exact