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Clinical and genetic features of L1 syndrome patients: Definition of two novel mutations.

Clinical neurology and neurosurgery - 1 Sept 2018

Isik Esra, Onay Huseyin, Atik Tahir, Akgun Bilcag, Cogulu Ozgur, Ozkinay Ferda

Abstract excerpt

L1 syndrome is a rare X linked recessive disorder caused bygene mutations in the L1 cell adhesion molecule (L1CAM), and characterized by hydrocephalus, intellectual disability, adducted thumbs and spasticity of the legs. The gene encodes a protein which plays an important role in neuronal development. Two unrelated L1 syndrome cases, with global developmental delay and hydrocephalus, were referred to pediatric...

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Identifiers

PMID: 29960101
DOI: 10.1016/j.clineuro.2018.06.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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