RS376062022 KMT2D
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Associated Conditions
KMT2D-related disorder
Kabuki syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
Primary central nervous system lymphoma
KMT2D-related disorder
Kabuki syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Kabuki syndrome 1
Primary central nervous system lymphoma
Other Variants in KMT2D