Article
Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant.
American journal of medical genetics. Part A - 1 Oct 2025
Alghamdi Malak, Alghamdi Ghaida, Hundallah Khalid, Jamjoom Dima, Almontashiri Naif, Alharbi Essa, Umair Muhammad, Alfadhel Majid
Abstract excerpt
This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features. Genetic analysis identified a novel homozygous variant, c.295G > T p.(Glu99*), in the CNP gene, which is...
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