Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Eye Diseases, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Pathological Conditions, Signs and Symptoms
Pathological Conditions, Anatomical
Agenesis of Corpus Callosum
Preferred term
Aicardi Syndrome
Type
-
Topical Descriptor
Entry terms
- Agenesis of Corpus Callosum with Chorioretinal Abnormality
- Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
- Aicardi's Syndrome
- Callosal Agenesis and Ocular Abnormalities
- Chorioretinal Anomalies with Acc
- Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
- Syndrome, Aicardi's
Scope note
- A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.
History note
- 2011
In other languages
-
Finnish
-
Aicardi
-
Aicardin syndrooma
-
Swedish
URI
http://www.yso.fi/onto/mesh/D058540
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