Norrie disease

An X-linked recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with PSYCHOSIS, and about one-third of patients develop SENSORINEURAL HEARING LOSS in the second decade. Growth failure and SEIZURES may also occur. Mutations in the NDP gene have been identified. OMIM: 310600

Also Known As:

Anderson-Warburg Syndrome; Atrophia bulborum hereditaria; Congenital Progressive Oculo-Acoustico-Cerebral Degeneration; Episkopi blindness; Fetal Iritis Syndrome; Norrie syndrome; Norrie's Disease; Norrie-Warburg syndrome; Oligophrenia Microphthalmus; Pseudoglioma; Pseudoglioma Congenita; Whitnall-Norman Syndrome

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Sensation Disorders: 123
    - Vision Disorders: 3078
      - Blindness: 5709
        Norrie disease: 168
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Epilepsy: 38749
      - Generalized Epilepsy: 907
        Infantile Spasms: 1462
        Norrie disease: 168
      - Epileptic Syndromes: 899
        Infantile Spasms: 1462
        Norrie disease: 168
- Norrie disease: 168
Eye Diseases: 3620
- Retinal Diseases: 3134
  - Retinal Degeneration: 4173
    - Norrie disease: 168
- Vision Disorders: 3078
  - Blindness: 5709
    - Norrie disease: 168
- Hereditary Eye Diseases: 19
  - Retinal Degeneration: 4173
    - Norrie disease: 168
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Sensation Disorders: 123
      - Vision Disorders: 3078
        Blindness: 5709
        Norrie disease: 168
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - X-Linked Genetic Diseases: 42
    - Norrie disease: 168

Yasir Hujeirat Selected Research

Yasir Hujeirat Research Topics

Disease

Drug/Important Bio-Agent (IBA)