Phenotypical and Genotypical Expansion of Autosomal-Dominant KDM1A -Related Neurodevelopmental Disorder Spectrum: A Case Report.

Abstract excerpt

KDM1A-related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra-rare autosomal dominant disorder is limited. Here, we report on a 13-year-old boy with a novel heterozygous, likely pathogenic germline missense variant in exon 16 of KDM1A with developmental delay, hypotonia, mild...

Topics

• Humans
• Male
• Adolescent
• Neurodevelopmental Disorders
• Histone Demethylases
• Phenotype
• Mutation, Missense
• Intellectual Disability
• Developmental Disabilities
• Genotype