Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome (DOORS)

Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome(来自ICD-11)

别称:

Doors Syndrome

Door Syndrome

Digitorenocerebral Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Eronen Syndrome

Drc Syndrome

Doors

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Brachydactyly Due to Absence of Distal Phalanges

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome, also known as doors syndrome, is related to deafness, autosomal dominant 65 and sensorineural hearing loss, and has symptoms including seizures An important gene associated with Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome is TBC1D24 (TBC1 Domain Family Member 24), and among its related pathways/superpathways are Sensory processing of sound and Aminoglycoside Ototoxicity Pathway, Adverse Drug Reaction. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are eeg abnormality and global developmental delay

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