Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

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Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

Synonyms: Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome | Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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