| Related Diseases | 
                            
                            
                                 has material basis in 
                                
                                    Kleefstra syndrome 1
                                
                                    chromosomal deletion syndrome
                                
                                    NFIA-related disorder
                                
                                    SATB2-associated syndrome
                                
                                    chromosomal duplication syndrome
                                
                                    posterior amorphous corneal dystrophy
                                
                                    syndromic X-linked intellectual disability Lubs type
                                
                                    hypotonia-cystinuria syndrome
                                
                                    Y-linked spermatogenic failure 1
                                
                                    hereditary nonpolyposis colorectal cancer type 8
                                
                                    split hand-foot malformation 3
                                
                                    alpha thalassemia-intellectual disability syndrome type 1
                                
                                    Axenfeld-Rieger syndrome type 2
                                
                                    autosomal dominant nonsyndromic deafness 51
                                
                                    hereditary mixed polyposis syndrome 1
                                
                                    Potocki-Shaffer syndrome
                                
                                    46,XY sex reversal 4
                                
                                    46,XY sex reversal 10
                                
                                    syndactyly type 1
                                
                                    AMME complex
                                
                                    DiGeorge syndrome
                                
                                    Cri-Du-Chat syndrome
                                
                                    Down syndrome
                                
                                    Williams-Beuren syndrome
                                
                                    Rubinstein-Taybi syndrome
                                
                            
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