Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Keyphrases

• Intellectual Disability 100%
• Phenotypic Expansion 100%
• White-Sutton Syndrome 100%
• Autism 66%
• Facial Features 33%
• Clinical Features 33%
• Hearing Impairment 33%
• Developmental Delay 33%
• Phenotypic Spectrum 33%
• Body Systems 33%
• Gastrointestinal 33%
• Increased Body Mass Index 33%
• Genetic Disease 33%
• Natural History 33%
• Obstructive Sleep Apnea 33%
• Loss Function 33%
• Clinical Laboratory 33%
• Syndromic Form 33%
• Clinical Exome Sequencing 33%
• Microcephaly 33%
• Population Mean 33%
• Phenotypic Data 33%
• Phenotypic Characterization 33%
• Forehead 33%
• Midface Hypoplasia 33%
• Gait Abnormalities 33%
• Anatomical Anomaly 33%
• Language Delay 33%
• Ocular Abnormalities 33%
• Nasal Bridge 33%
• Sleep-disordered Breathing 33%
• Genitourinary Anomalies 33%
• Heterozygous Pathogenic Variants 33%
• Nasal Root 33%
• Allelic Series 33%

Medicine and Dentistry

• Intellectual and Developmental Disabilities 100%
• Obstructive Sleep Apnea 66%
• Autism 66%
• Mouth 33%
• Body Mass Index 33%
• Hearing Impairment 33%
• Exome Sequencing 33%
• Clinical Feature 33%
• Developmental Delay 33%
• Genetic Disorder 33%
• Eye Disease 33%
• Clinical Genetics 33%
• Microcephaly 33%
• Midface Hypoplasia 33%
• Facies 33%
• Speech Delay 33%

Biochemistry, Genetics and Molecular Biology

• Intellectual Disability 100%
• Genetics 33%
• Exome Sequencing 33%
• Body Mass 33%
• Breathing 33%
• Genetic Disorder 33%