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X-linked complicated corpus callosum dysgenesis
rareX-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.
- Identifiers
- MONDO:0010569 OMIM:304100Orphanet:1497
- Causal genes
- L1CAM
- Part of
- L1 syndromeHereditary disease
- Also known as
- corpus callosum, partial agenesis of, X-linked recessive · X-linked complicated corpus callosum agenesis · X-linked partial agenesis of corpus callosum · X-linked partial corpus callosum agenesis
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