Agenesis of Cerebellar Vermis

A clinically and genetically heterogeneous group of disorders. Brain imaging of patients shows a distinct "molar tooth sign." In infants, symptoms include hypotonia, breathing, and eye movement abnormalities, and characteristic facial features. Germline mutations in more than 10 different genes account for half all cases, including, TMEM216, TMEM237, AHI1, NPHP1, CEP290, INPP5E, and CSPP1 genes. OMIM: 213300

Also Known As:

Cerebellar vermis agenesis; Cerebello-Oculo-Renal Syndrome; Cerebellooculorenal syndrome 1; Cerebelloparenchymal Disorder IV; Cerebelloparenchymal disorder 4; Familial Aplasia of the Vermis; Joubert Syndrome; Joubert syndrome 1; Joubert-Boltshauser syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Agenesis of Cerebellar Vermis: 160
  - Eye Abnormalities: 95
    - Agenesis of Cerebellar Vermis: 160
Nervous System
- Central Nervous System
  - Brain
    - Brain Stem
      - Rhombencephalon
        Metencephalon
        Cerebellum
        Agenesis of Cerebellar Vermis: 160
Eye Diseases: 3522
- Eye Abnormalities: 95
  - Agenesis of Cerebellar Vermis: 160
Sense Organs
- Eye
  - Retina
    - Agenesis of Cerebellar Vermis: 160
Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Cystic Kidney Diseases: 461
      - Agenesis of Cerebellar Vermis: 160
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Cystic Kidney Diseases: 461
        Agenesis of Cerebellar Vermis: 160
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Cystic Kidney Diseases: 461
        Agenesis of Cerebellar Vermis: 160

Iolanda Spasari Selected Research

Iolanda Spasari Research Topics

Disease

Drug/Important Bio-Agent (IBA)