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June 9, 2026Neurology

HYPK in Humans: The First Characterization of a New Neurodevelopmental Syndrome (P1-8.009)

Rahi Patel Rikhil Makwana Elaine Marchi Ziyi Fan Erin Falsey Beatriz Menéndez Philip Giampietro Ingrid Wentzensen Tzung‐Chien Hsieh Shu‐ou Shan Gholson Lyon

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Key Points

The study aims to characterize the effects of a de novo HYPK variant on neurodevelopment in a human subject.
Case report of a single patient with a de novo HYPK variant.
Assessment of developmental milestones, behavioral symptoms, and physical characteristics.
Patient exhibited developmental delay, autism, and facial dysmorphia linked to the HYPK variant.

Abstract

We report the first known case of a de novo HYPK variant presenting with developmental delay, autism, and facial dysmorphia.

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Cite This Study

Patel et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf403faef96ed7f056665 https://doi.org/10.1212/wnl.0000000000212797

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