preferred_name: Berk-Tabatznik syndrome
preferred_name_lc: berk-tabatznik syndrome
label: short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges
label_lc: short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges