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DOORS syndrome
rareDOORS 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. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.
- Identifiers
- MONDO:0009079 OMIM:220500Orphanet:79500
- Causal genes
- TBC1D24
- Also known as
- autosomal recessive deafness-onychodystrophy syndrome · 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
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