Andermann syndrome is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Absence (agenesis) or malformation of the tissue connecting the left and right halves of the brain (corpus callosum) also occurs in
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Symptoms of Andermann syndrome
Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms
- Aplasia ...
Genetics of Andermann syndrome
Mutations in the SLC12A6 gene cause Andermann syndrome . The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across
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Names and Terminology
Other Names for This Condition
- agenesis of corpus callosum with neuronopathy
- agenesis of corpus callosum with peripheral neuropathy
- agenesis of corpus callosum with polyneuropathy ...
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- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ andermann-syndrome
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