Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain

This case report and literature review documents an ultra-rare de novo copy number gain at 5q14.3q15. The patient’s phenotype included hypotonia, microcephaly, global developmental delay, iris hypoplasia, atrophy, sweat dysregulation, and skeletal implications, including camptodactyly. This case pre...

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Bibliographic Details
Main Authors: Costela Lacrimioara Serban, Alexandra Mihailescu, Diana Miclea, Cristian G. Zimbru, Florina Stoica, Adela Chirita-Emandi
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-05-01
Series:Frontiers in Genetics
Subjects:
5q14.3q15
iris hypoplasia
finger hypomobility
developmental delay
microcephaly
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1549685/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1549685/full

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