RS398123753 KMT2D
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What This Variant Does
"CLNSIG=255
Associated Conditions
Kabuki syndrome 1
Kabuki syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
Kabuki syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Other Variants in KMT2D