MAN2B1 and TWIST1-related craniosynostosis: The clinical findings of family A were consistent to an extent with those of previous studies, for showing hearing impairment, speech delay, craniostenosis but still lacking distinctive disease features like dysmorphic facial features, intellectual disability, hepatosplenomegaly, hypotonia, etc. However, family B revealed altogether a totally new phenotype (bilateral glaucoma and clubfoot) that has never been reported earlier, associated with MAN2B1 gene variant with no other α-mannosidosis related symptoms.