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X-linked complicated corpus callosum dysgenesis
Medical condition / From Wikipedia, the free encyclopedia
X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia.[2] Only 13 cases (all male) have been described in medical literature.[3] Transmission is X-linked recessive.[4] It is the mildest subtype of L1 syndrome.[5][4]
Quick Facts Other names, Specialty ...
X-linked complicated corpus callosum dysgenesis | |
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Other names | X-linked complicated corpus callosum agenesis, X-linked partial corpus callosum agenesis, X-linked partial agenesis of corpus callosum.[1] |
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Specialty | Medical genetics |
Types | This condition is part of the L1 spectrum disorders, also known as L1 syndrome. |
Causes | genetic mutation |
Prevention | none |
Prognosis | Medium |
Frequency | rare |
Deaths | 3 (reported) |
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This condition differs from other L1 syndromes due to the fact that neither hydrocephalus, adducted thumbs, or speech difficulties are common in patients with the condition.[2]