DOORS syndrome

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DOORS syndrome

Synonyms: Autosomal recessive deafness-onychodystrophy syndrome | Autosomal recessive hearing loss-onychodystrophy syndrome | DOOR syndrome | Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome | Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome | Deafness-onychoosteodystrophy-intellectual disability syndrome | Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome | Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome | Hearing loss-onychoosteodystrophy-intellectual disability syndrome

A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness) onychodystrophy osteodystrophy mild to profound intellectual disability and seizures.

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: // Data version September 2023.

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DOORS syndrome?

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