Article

Case Report: Chung-Jansen Syndrome Associated with a Novel PHIP Deletion and Lysosomal Storage–Like Features

2026-02-26

Abstract excerpt

<h4>Background: </h4> Chung–Jansen syndrome (CHUJANS, OMIM #617991) is a rare neurodevel-opmental disorder caused by heterozygous pathogenic variants in the PHIP gene. Core clinical features include developmental delay, intellectual disability, behavioral abnor-malities, childhood-onset overweight or obesity and dysmorphic features. Case presentation: We report a case of a girl diagnosed with CHUJANS, who presente...

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Literature Corpus work: f496d264-1e19-5ca7-9742-563764252a77
DOI: 10.20944/preprints202602.1583.v1

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