DOOR syndrome

DOOR syndrome
Other namesDeafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
This condition is inherited in an autosomal recessive manner
SpecialtyDiseasesDB = 32494

DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an autosomal recessive fashion. DOOR syndrome is characterized by intellectual disability, sensorineural deafness, abnormal nails and phalanges of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an autosomal dominant trait and has no mental retardation. Some authors have proposed that it may be the same as Eronen syndrome, but since both disorders are extremely rare it is hard to make a determination.

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