A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.

Abstract excerpt

BACKGROUND: Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties and mild intellectual disabilities, but full phenotypic descriptions were often incomplete. Recently, detailed phenotypic features of five affected...

Topics

• Ataxia
• Child
• Child, Preschool
• Developmental Disabilities
• Female
• Histone Demethylases
• Humans
• Intellectual Disability
• Male
• Muscle Hypotonia
• Phenotype