preferred_name: cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
preferred_name_lc: cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation
label: cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
label_lc: cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation