Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Keyphrases

• Neurodevelopmental Disorders 100%
• Clinical Presentation 100%
• Autism 100%
• Intellectual Disability 75%
• Genotype 50%
• Clinical Features 50%
• Comorbidity 25%
• Comorbid 25%
• Epilepsy 25%
• Facial Features 25%
• Childhood Autism 25%
• Behavior Problems 25%
• Sleep Disturbance 25%
• Congenital Heart Defects 25%
• Hypotonia 25%
• Clinical Spectrum 25%
• Gastrointestinal Problems 25%
• Structured Questionnaire 25%
• Systematic Literature Review 25%
• Large Cohort 25%
• Direct Interaction 25%
• Multiple Organs 25%
• Genetic Screening 25%
• Short Stature 25%
• Clinical Description 25%
• Clinical Characterization 25%
• Severely Affected 25%
• De-novo mutations 25%
• Severe Intellectual Disability 25%
• Brain Abnormalities 25%
• Screening Study 25%
• Clinical Photographs 25%
• Written Questionnaire 25%
• Disruptive mutation 25%
• Language Delay 25%
• Hormonal Imbalance 25%
• Motor Delay 25%
• Visual Problems 25%
• Distinctive Facial Features 25%
• ADNP Gene 25%
• Clinical Specialist 25%
• Helsmoortel-Van Der Aa Syndrome 25%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Genotyping 50%
• Comorbidity 25%
• Genetics 25%
• Problem Behavior 25%
• Body Height 25%
• ADNP (Gene) 25%