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L1syndrome is an X‐linked disorder manifesting with congenital hydrocephalus, adducted thumbs and spasticity. There are rare cases of L1 syndrome and coincident Hirschsprung disease, with mutations in the  L1CAM  gene thought to underlie both. We present a novel pathogenic  L1CAM  variant in someone with L1 syndrome and Hirschsprung disease.

Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant