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. [1] |
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) |
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]
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]
This condition is caused by X-linked recessive mutations in the L1CAM gene, located in the long arm of the X chromosome. [3] Mutations involved in the milder variants of L1 syndrome (including X-linked complicated corpus callosum dysgenesis) usually work by changing the L1 protein structure. [4]
The following list comprises all cases of X-linked complicated corpus callosum dysgenesis described in medical literature (from OMIM): [3]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
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. [1] |
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) |
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]
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]
This condition is caused by X-linked recessive mutations in the L1CAM gene, located in the long arm of the X chromosome. [3] Mutations involved in the milder variants of L1 syndrome (including X-linked complicated corpus callosum dysgenesis) usually work by changing the L1 protein structure. [4]
The following list comprises all cases of X-linked complicated corpus callosum dysgenesis described in medical literature (from OMIM): [3]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)