Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing

Keyphrases

• Intellectual Disability 100%
• Phenotypic Spectrum 100%
• Exome Sequencing 100%
• Pathogenic Variants 100%
• Noncompaction Cardiomyopathy 100%
• Related Disorders 50%
• Developmental Delay 50%
• Whole Exome Sequencing 50%
• Proband 50%
• Gene-deficient Mice 50%
• Genome Analysis 50%
• Synaptic Activity 50%
• Splicing Site 50%
• Splice Variant 50%
• Complex Phenotypes 50%
• Dysmorphism 50%
• Exon 11 50%
• X-linked Intellectual Disability 50%

Biochemistry, Genetics and Molecular Biology

• Exome Sequencing 100%
• Intellectual Disability 100%
• Mouse 50%
• Exon 50%
• Proband 50%
• Exome 50%