<scp> <i>CHD8</i> </scp> ‐Related Neurodevelopmental Disorder Manifesting Adult‐Onset Compulsive Behaviors

A patient of intellectual developmental disorder with autism and macrocephaly (IDDAM) caused by a novel CHD8 mutation developed adult-onset compulsive behaviors in addition to the core phenotype in early life. This case expands the clinical and genotypic spectrums of IDDAM which may inspire future studies on genotype-phenotype correlation and the disease course.

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Publication Details

Journal
Clinical Genetics
Published
2025-11-27
DOI
https://doi.org/10.1111/cge.70117
Primary Topic
Autism Spectrum Disorder Research
Type
article
Field-Weighted Citation Impact
0.00
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article

CHD8 ‐Related Neurodevelopmental Disorder Manifesting Adult‐Onset Compulsive Behaviors

Min‐Yu Lan, Yung‐Yee Chang, Yu‐Chi Huang, Shih‐Chun Lan
Clinical Genetics
Autism Spectrum Disorder Research
article

CHD8 ‐Related Neurodevelopmental Disorder Manifesting Adult‐Onset Compulsive Behaviors

Min‐Yu Lan, Yung‐Yee Chang, Yu‐Chi Huang, Shih‐Chun Lan
article en

Abstract

A patient of intellectual developmental disorder with autism and macrocephaly (IDDAM) caused by a novel CHD8 mutation developed adult-onset compulsive behaviors in addition to the core phenotype in early life. This case expands the clinical and genotypic spectrums of IDDAM which may inspire future studies on genotype-phenotype correlation and the disease course.

Clinical GeneticsVol. 109(4)
National Taiwan University (TW), Chang Gung University (TW), Kaohsiung Chang Gung Memorial Hospital (TW)
Openalex Percentile: Top 63%
Autism Spectrum Disorder Research
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