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Gurrieri Sammito Bellussi syndrome

Also Known As:

Gurrieri syndrome; Skeletal dysplasia epilepsy short stature

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Gurrieri Sammito Bellussi syndrome: 2
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Gurrieri Sammito Bellussi syndrome: 2
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Epilepsy: 37791
      - Gurrieri Sammito Bellussi syndrome: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Neurobehavioral Manifestations: 1586
      - Intellectual Disability: 8035
        Gurrieri Sammito Bellussi syndrome: 2
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1586
  - Intellectual Disability: 8035
    - Gurrieri Sammito Bellussi syndrome: 2
Mental Disorders: 24177
- Neurodevelopmental Disorders: 3095
  - Intellectual Disability: 8035
    - Gurrieri Sammito Bellussi syndrome: 2

Related Diseases

1.	alpha-Thalassemia
2.	Rett Syndrome (Rett's Disorder)
3.	Seizures (Absence Seizure)
4.	Intellectual Disability (Idiocy)

Experts

1.	Driscoll, D: 1 article (06/2001)
2.	Lossie, A: 1 article (06/2001)
3.	R.C. Phillips Unit: 1 article (06/2001)
4.	Williams, C A: 1 article (06/2001)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gurrieri Sammito Bellussi syndrome:

1.	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 06/01/2001 - "Single gene conditions include methylene tetrahydrofolate reductase deficiency (MTHFR), Rett syndrome, alpha-thalassemia retardation syndrome (ATR-X), and Gurrieri syndrome. "
2.	Retinaldehyde (Retinal)IBA 01/01/1999 - "Autosomal recessive syndrome of growth and mental retardation, seizures, retinal abnormalities, and osteodysplasia with similarity to the Gurrieri syndrome."