RS748317115 KMT2D

Health Risk Chr 12:49039959
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Associated Conditions
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
KMT2D-related disorder
Kabuki syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
KMT2D-related disorder
Kabuki syndrome
Other Variants in KMT2D
rs267607237 rs267607240 rs267607239 rs267607238 rs398123699 rs398123700 rs398123701 rs398123702 rs374418866 rs398123703
Ask Dr. Hemsworth about this variant