Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene

Medicine and Dentistry

• Angiomatosis 33%
• Autosomal Dominant Inheritance 33%
• Clinical Feature 33%
• Cognitive Defect 33%
• Disease 33%
• Dysmorphic Feature 100%
• Epileptic Seizure 66%
• Final Diagnosis 33%
• Genetic Disorder 33%
• Genetic Screening 33%
• Glutamine 33%
• Learning Disorder 100%
• Leukodystrophy 33%
• Magnetic Resonance Imaging 33%
• Microcephaly 100%
• Progeny 33%
• Rare Disease 33%
• Short Stature 100%
• Synapsin I 33%