Aniridia cerebellar ataxia mental deficiency

Also Known As:

Aniridia, Cerebellar Ataxia, And Mental Deficiency; Aniridia, partial-cerebellar ataxia-mental retardation; Aniridia, partial-cerebellar ataxia-oligophrenia; Gillespie syndrome

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

Disease Context: Research Results

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Dyskinesias: 7807
    - Ataxia: 6364
      - Cerebellar Ataxia: 1529
        Aniridia cerebellar ataxia mental deficiency: 1
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Aniridia cerebellar ataxia mental deficiency: 1
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Cerebellar Diseases: 631
      - Cerebellar Ataxia: 1529
        Aniridia cerebellar ataxia mental deficiency: 1
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Dyskinesias: 7807
      - Ataxia: 6364
        Cerebellar Ataxia: 1529
        Aniridia cerebellar ataxia mental deficiency: 1
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Aniridia cerebellar ataxia mental deficiency: 1
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Aniridia cerebellar ataxia mental deficiency: 1
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Aniridia cerebellar ataxia mental deficiency: 1
Eye Diseases: 3522
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Eye Abnormalities: 95
    - Aniridia: 470
      - Aniridia cerebellar ataxia mental deficiency: 1
- Inborn Genetic Diseases: 11939
  - Hereditary Eye Diseases: 18
    - Aniridia: 470
      - Aniridia cerebellar ataxia mental deficiency: 1

Related Diseases

1.	Hypopigmentation (Hypomelanosis)
2.	Exotropia (Exophoria)
3.	Cataract (Cataracts)

Experts

1.	Egel, Robert T: 1 article (12/2006)
2.	Hilchie-Schmidt, Clair: 1 article (12/2006)
3.	Howarth, Rachel J: 1 article (12/2006)
4.	Robinson, David: 1 article (12/2006)
5.	Ticho, Benjamin H: 1 article (12/2006)
6.	Traboulsi, Elias I: 1 article (12/2006)
7.	Böhles, H: 1 article (03/2001)
8.	Gebhardt, B: 1 article (03/2001)
9.	Kieslich, M: 1 article (03/2001)
10.	Vanselow, K: 1 article (03/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Aniridia cerebellar ataxia mental deficiency:

1.	Retinaldehyde (Retinal)IBA 12/01/2006 - "We herein report a case of atypical Gillespie syndrome associated with bilateral ptosis, exotropia, corectopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation. "