Warburg Sjo Fledelius syndrome

A rare hereditary disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, CORPUS CALLOSUM hypoplasia, severe intellectual disability, SPASTIC DIPLEGIA, and hypogonadism. It is caused by mutations in the RAB3GAP1 gene. OMIM: 600118

Also Known As:

Micro Syndrome; WARBM1 Warburg micro syndrome 1; Warburg micro syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Multiple Abnormalities: 213
    - Warburg Sjo Fledelius syndrome: 13
  - Musculoskeletal Abnormalities: 46
    - Craniofacial Abnormalities: 208
      - Microcephaly: 1507
        Warburg Sjo Fledelius syndrome: 13
  - Nervous System Malformations: 36
    - Malformations of Cortical Development: 383
      - Group I Malformations of Cortical Development
        Microcephaly: 1507
        Warburg Sjo Fledelius syndrome: 13
Eye Diseases: 3620
- Optic Nerve Diseases: 2736
  - Optic Atrophy: 839
    - Warburg Sjo Fledelius syndrome: 13
- Lens Diseases: 7
  - Cataract: 28618
    - Warburg Sjo Fledelius syndrome: 13
Sense Organs
- Eye
  - Anterior Eye Segment
    - Cornea
      - Warburg Sjo Fledelius syndrome: 13
Endocrine System Diseases: 996
- Gonadal Disorders: 30
  - Hypogonadism: 6346
    - Warburg Sjo Fledelius syndrome: 13
Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - Warburg Sjo Fledelius syndrome: 13
- Cranial Nerve Diseases: 564
  - Optic Nerve Diseases: 2736
    - Optic Atrophy: 839
      - Warburg Sjo Fledelius syndrome: 13
- Nervous System Malformations: 36
  - Malformations of Cortical Development: 383
    - Group I Malformations of Cortical Development
      - Microcephaly: 1507
        Warburg Sjo Fledelius syndrome: 13
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7223
    - Neurobehavioral Manifestations: 1632
      - Intellectual Disability: 8222
        Warburg Sjo Fledelius syndrome: 13
Behavior and Behavior Mechanisms
- Neurobehavioral Manifestations: 1632
  - Intellectual Disability: 8222
    - Warburg Sjo Fledelius syndrome: 13
Mental Disorders: 25040
- Neurodevelopmental Disorders: 3318
  - Intellectual Disability: 8222
    - Warburg Sjo Fledelius syndrome: 13
Musculoskeletal Diseases: 751
- Musculoskeletal Abnormalities: 46
  - Craniofacial Abnormalities: 208
    - Microcephaly: 1507
      - Warburg Sjo Fledelius syndrome: 13

Mara H Cowen Selected Research

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Disease

Drug/Important Bio-Agent (IBA)