X-linked complicated corpus callosum dysgenesis
Findings
No curated finding names X-linked complicated corpus callosum dysgenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-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.
Definition from the Mondo Disease Ontology (MONDO:0010569), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- Pes planusHPOHP:0001763
- 2 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- L1CAMHGNC:6470
- Strong · Genomics England PanelApp · X-linked · 2021
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: X-linked complicated corpus callosum dysgenesis
- Also called
- corpus callosum, partial agenesis of, X-linked recessive