DOORS syndrome

DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.

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Aliases

• Autosomal recessive deafness-onychodystrophy syndrome
• autosomal recessive deafness-onychodystrophy syndrome
• brachydactyly due to absence of distal phalanges
• deafness onychodystrophy osteodystrophy and intellectual disability syndrome
• deafness onychodystrophy osteodystrophy and mental retardation syndrome
• deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures syndrome
• deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
• Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
• deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
• deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
• Deafness-onychoosteodystrophy-intellectual disability syndrome
• deafness-onychoosteodystrophy-intellectual disability syndrome
• Digitorenocerebral syndrome
• digitorenocerebral syndrome
• DOOR syndrome
• door syndrome
• DOORS
• DOORS syndrome
• DOORS syndrome
• drc syndrome
• Eronen syndrome