A Novel Homozygous HERC2 c.4660C>T (p. Arg1554Ter) Variant in an Infant with Severe Neurodevelopmental Disorder and Diffuse Osteopenia: A Case Report
Abdillahi Moustapha, A. Laaraj, A. Radi & R. Abikassem · Asian Journal of Pediatric Research · 2026
Background: HERC2-related intellectual developmental disorder is a rare autosomal recessive neurodevelopmental condition, and its full phenotypic spectrum remains incompletely defined. Case Presentation: We report a 7-month-old female infant born to second-degree consanguineous p...
Open access
Research Article
10.9734/ajpr/2026/v16i10582