Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability

Medicine and Dentistry

• Disease 100%
• Hypoplasia 100%
• Facies 100%
• Skin Pigmentation 100%
• Short Stature 50%
• Symptom 50%
• Genetic Disorder 50%
• Nodular Melanoma 50%
• Clinical Feature 50%
• Attention Deficit Disorder 50%
• Homeostasis 50%
• Melanocyte 50%
• Clinical Finding 50%
• Fingertip 50%
• Skin Finding 50%
• Chromatin Remodeling 50%
• Loss of Function Mutation 50%

Keyphrases

• ARID2 100%
• Toenail 33%
• Coffin-Siris Syndrome 33%
• Nicolaides-Baraitser Syndrome 33%
• Coarse Facial Features 16%
• SMARCA2 16%