Table 1 List of reported presenting features in LIG4 patients [12–18, 22–27, 31]

Physical features

Microcephaly

Growth restriction

"Bird-like" or "Seckel syndrome-like" facies

Bilateral epicanthic folds

Hypogonadism

Bone abnormalities

Bone Hypoplasia

Syndactyly

Polydactyly

Congential Hip Dysplasia

Skin conditions

Photosensitivity

Psoriasis

Eczema

Widespread Ecchymosis

Hypopigmentation

Extensive Plantar Warts