X-linked complicated corpus callosum dysgenesis
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. Only 13 cases (all male) have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome.
| X-linked complicated corpus callosum dysgenesis | |
|---|---|
| Other names | X-linked complicated corpus callosum agenesis, X-linked partial corpus callosum agenesis, X-linked partial agenesis of corpus callosum. |
| 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) |
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.
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