Pathology

 X-linked hydrocephalus (MIM.307000)
 MASA syndrome (MIM.303350)
 X-linked complicated spastic paraplegia type 1
 X-linked agenesis of the corpus callosum
 X-linked hydrocephalus by stenosis of the aqueduct of Sylvius (MIM.307000) and congenital idiopathic intestinal pseudoobstruction (MIM.300048)
 X-linked hydrocephalus (MIM.307000) with Hirschsprung disease (MIM.142623)

References

 Kenwrick S, Watkins A, De Angelis E. Neural cell recognition molecule L1: relating biological complexity to human disease mutations. Hum Mol Genet. 2000 Apr 12;9(6):879-86. PMID: #10767310#

 Fransen E, Van Camp G, Vits L, Willems PJ. L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Hum Mol Genet. 1997;6(10):1625-32. PMID: #9300653#