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X-linked mental retardation Gustavson type

Also Known As:

Gustavson syndrome; Mental retardation X-linked severe Gustavson type; Mental retardation with optic atrophy, deafness, and seizures

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Deafness: 5416
        X-linked mental retardation Gustavson type: 1
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
- Cranial Nerve Diseases: 554
  - Optic Nerve Diseases: 2663
    - Optic Atrophy: 819
      - X-linked mental retardation Gustavson type: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Seizures: 41747
      - X-linked mental retardation Gustavson type: 1
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Deafness: 5416
        X-linked mental retardation Gustavson type: 1
Eye Diseases: 3522
- Optic Nerve Diseases: 2663
  - Optic Atrophy: 819
    - X-linked mental retardation Gustavson type: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - X-linked mental retardation Gustavson type: 1
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - X-linked mental retardation Gustavson type: 1

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-linked mental retardation Gustavson type:

1.	RNA Polymerase II (RNA Polymerase B)IBA 06/05/2023 - "In conclusion, we present a novel in-frame deletion in RBMX segregating with Gustavson syndrome, leading to disturbed RNA polymerase II transcription, and potentially reduced SH3 binding. "