Table 1. Clinical findings in GLI2 mutation carriers.

Family	Mutation	Constructs	Phenotype
1 (proband)	W113X (339G>A)	4, 15	Bilateral cleft lip and palate (Fig. 2b), microcephaly, hypotelorism, single central incisor (removed), postaxial hexadactyly, growth hormone deficiency associated with pituitary hypoplasia, without other obvious forebrain anomalies.
1 (sister)	Deceased		Autopsy findings included hypotelorism, single nostril, hypoplastic palate and maxilla, normal digits, absent anterior lobe of the pituitary, alobar HPE, and hydrocephalus. DNA was not available for testing. Neither parent is a mutation carrier consistent with gonadal mosaicism.
2 (proband)	IVS5 + 1G>A	2, 8	Hypotelorism, single nares, extreme midface hypoplasia (Fig. 2c), microcephaly, developmental delay, pseudomedian cleft lip, severe growth retardation, growth hormone deficiency, no obvious forebrain anomalies on computerized tomography.
2 (father)	IVS5 + 1G>A	2, 8	Apparently normal. Clinical reevaluation was not possible.
3 (proband)	R168X (502C>T)	16	Male patient referred with HPE findings; however, detailed findings were not available.
3 (father)	R168X (502C>T)	16	Apparently normal.
4 (proband)	2274del1	5	Repaired cleft lip and palate (Fig. 2e), pan-hypopituitarism, optic nerve hypoplasia, absent pituitary on MRI, bilateral postaxial polydactyly.
4 (twin brother)	2274del1	5	Pan-hypopituitarism of both male twins. One sibling died at 5 months of age with midline cleft lip and palate (Fig. 2d), hypotelorism, flat midface, absent pituitary, an abnormal configuration of lower midline structures, and partial agenesis of the corpus callosum by head ultrasound.
4 (twin brother)	Deceased
4 (father)	2274del1	5	Father and paternal aunt with normal intelligence and postaxial polydactyly that may represent a microform. Note that other relatives who were unavailable for testing have postaxial polydactyly and cleft lip and palate (Fig. 1a).
4 (paternal aunt)	2274del1	5