Neurodevelopmental Disorder with Dysmorphic Facies and Distal Limb Anomalies
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Associated Variants (38)
| RSID | Gene | Evidence |
|---|---|---|
| RS144807262 | BPTF | strong |
| RS2147907396 | BPTF | strong |
| RS2144998926 | BPTF | strong |
| RS2129570184 | KMT2E | strong |
| RS2147246788 | BPTF | strong |
| RS2144999012 | BPTF | strong |
| RS1259365489 | BPTF | strong |
| RS2511711803 | BPTF | strong |
| RS2510102579 | BPTF | strong |
| RS2517986894 | TNRC6B | strong |
| RS2148293838 | BPTF | strong |
| RS2543874648 | SETD1A | strong |
| RS747101853 | BPTF | strong |
| RS2502979421 | CACNA1C | strong |
| RS2516760898 | SCAF4 | strong |
| RS893784943 | BPTF | strong |
| RS2513705006 | BPTF | strong |
| RS2512646880 | BPTF | strong |
| RS2511450754 | BPTF | strong |
| RS1599044870 | BPTF | strong |
| RS878853322 | PPT1 | strong |
| RS1057518354 | BPTF | strong |
| RS1135401778 | BPTF | strong |
| RS1555639411 | BPTF | strong |
| RS1555652383 | BPTF | strong |
| RS782736894 | BPTF | strong |
| RS1555693714 | BPTF | strong |
| RS1554263625 | RAC1 | strong |
| RS141976414 | EIF3F | strong |
| RS104894043 | SHH | strong |
| RS749412697 | BPTF | strong |
| RS1598050118 | BPTF | strong |
| RS2055932118 | BPTF | strong |
| RS2063551300 | BPTF | strong |
| RS753210939 | BPTF | strong |
| RS2069336193 | BPTF | strong |
| RS2147247193 | BPTF | strong |
| RS2146269629 | BPTF | strong |