Agenesis of the corpus callosum: causes

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Agenesis of the corpus callosum: causes. Acrocallosal syndrome. Fully referenced neurology checklist.

A-C

  • Acrocallosal syndrome
  • Agenesis of the corpus callosum with fatal lactic acidosis (MRPS16)
  • Agenesis of the corpus callosum with ectodermal dysplasia
  • Aicardi syndrome
  • Andermann syndrome
  • AMPD2 gene mutation
  • Apert syndrome
  • ATR-X syndrome
  • Basal cell nevus syndrome
  • Cogan syndrome
  • Coffin Siris syndrome
  • Craniofrontonasal syndrome
  • CRASH/MASA syndromes (L1CAM)
  • Chromosomal rearrangements
  • Chudley-McCullough syndrome

D-L

Locked: subscribe to see this section.

M-P

Locked: subscribe to see this section.

R-Z

Locked: subscribe to see this section.

References

  1. Paul LK, Brown WS, Adolphs R, et al. Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci 2007; 8:287-299.
  2. Schell-Apacik CC, Wagner K, Bihler M, et al. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A 2008; 146A:2501-2511. 
  3. Marsh AP, Lukic V, Pope K, et al. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss. Neurol Genet 2015; 1:e16.
  4. Nadkarni TD, Menon RK, Shah AH, Goel A. Chudley McCullough syndrome. Childs Nerv Syst 2008; 24:541-544. 
  5. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7:1127-1138.
  6. And 3 more. Subscribe to see the full list

Related checklists

Loading...