Germline hemizygous C-terminal frameshift variants in the ZRSR2gene are associated with oro-facial-digital syndrome type 21 (OFD type 21). This X-linked recessive disorder is characterized by oral (high narrow palate or cleft palate), facial (high broad forehead and depressed nasal bridge), digital (bilateral postaxial polydactyly and hallux duplication) and brain anomalies (pituitary anomalies or holoprosencephaly) in males. Females who are heterozygous for these ZRSR2variants were reported to be asymptomatic. Thus far, 8 boys from 6 unrelated families have been reported.
ZRSR2