syndromic intellectual disability multiple congenital anomalies/dysmorphic syndrome-intellectual disability aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/aphonia_deafness_retinal_dystrophy_bifid_halluces_intellectual_disability_syndrome aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome UMLS:C4751006 Orphanet:324540 GARD:0021443 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. MEDGEN:1651057 aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome MONDO:0017934