Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome

Keyphrases

• Related Disorders 100%
• KMT2D 100%
• Kabuki Syndrome 100%
• Phenotypic Expansion 100%
• Missense Variants 40%
• Autosomal Dominant 20%
• Amino Acids 20%
• Gain-of-function mutation 20%
• Pathogenic Variants 20%
• Coiled-coil Domain 20%
• Disease Mechanisms 20%
• Lysine 20%
• Phenotypic Spectrum 20%
• Disease Variants 20%
• Underlying Disease 20%
• Interstitial Lung Disease 20%
• Hypoparathyroidism 20%
• Methyltransferase 20%
• Dysmorphic Features 20%
• Short Stature 20%
• Pubertal Development 20%
• Nipple 20%
• Choanal Atresia 20%
• Eyebrow 20%
• Athelia 20%
• Eversion 20%
• Palpebral Fissure 20%
• Variant Cluster 20%
• Finger Pad 20%
• Dysmorphic Facial Features 20%
• Lower Lid 20%

Medicine and Dentistry

• Disease 100%
• Kabuki Syndrome 100%
• Allele 20%
• Amino Terminal Sequence 20%
• Clinical Finding 20%
• Finger 20%
• Amino Acid 20%
• Facies 20%
• Autosomal Dominant Inheritance 20%
• Interstitial Lung Disease 20%
• Lysine 20%
• Short Stature 20%
• Dysmorphic Feature 20%
• Methyltransferase 20%
• Lid 20%
• Hypoparathyroidism 20%
• Choanal Atresia 20%
• Palpebral Fissure 20%
• Eyebrow 20%
• Athelia 20%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Allele 50%
• Autosomal Dominant Inheritance 50%
• Amino Acids 50%
• N-Terminus 50%
• Coiled Coil 50%
• Lysine 50%
• Body Height 50%
• Methyltransferase 50%