X-linked complicated corpus callosum dysgenesis: genes and variants
X-linked complicated corpus callosum dysgenesis is linked to 1 analyzed protein (L1CAM). 2 DNA variants are known to cause it; 10 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to X-linked complicated corpus callosum dysgenesis
L1CAM: Neural cell adhesion molecule L1
It promotes neuronal adhesion, axon guidance, neurite growth, and fasciculation during nervous-system development. Loss-of-function variants cause L1 syndrome, encompassing X-linked hydrocephalus, MASA syndrome, spastic paraplegia, and variable intellectual disability.
2 disease-causing and 10 uncertain variants in L1CAM are linked to X-linked complicated corpus callosum dysgenesis.
Known disease-causing variants in X-linked complicated corpus callosum dysgenesis
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| L1CAM E304K | 304 | Ig-like C2-type 3 | Disease-causing (★★) |
| L1CAM E309K | 309 | Ig-like C2-type 3 | Disease-causing (★★) |
Same protein, different disease
- X-linked hydrocephalus syndrome is also caused by L1CAM variants; they fall mostly in different places as the X-linked complicated corpus callosum dysgenesis variants (8 disease-causing).
- L1 syndrome is also caused by L1CAM variants; they fall mostly in different places as the X-linked complicated corpus callosum dysgenesis variants (7 disease-causing).
- MASA syndrome is also caused by L1CAM variants; they fall mostly in different places as the X-linked complicated corpus callosum dysgenesis variants (6 disease-causing).
Diseases related to X-linked complicated corpus callosum dysgenesis
- X-linked hydrocephalus syndrome, also linked to L1CAM
- L1 syndrome, also linked to L1CAM
- Muscular dystrophy, limb-girdle, autosomal recessive 23, also linked to L1CAM
- MASA syndrome, also linked to L1CAM
- Hydrops fetalis, also linked to L1CAM
Frequently asked questions
Which genes are linked to X-linked complicated corpus callosum dysgenesis?
In CATVariant, X-linked complicated corpus callosum dysgenesis is linked to 1 analyzed protein: L1CAM (Neural cell adhesion molecule L1).
How many genetic variants are linked to X-linked complicated corpus callosum dysgenesis?
19 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in X-linked complicated corpus callosum dysgenesis look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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