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. 2018 Nov 28;56(5):332–339. doi: 10.1136/jmedgenet-2018-105623

Figure 1.

Figure 1

Clinical phenotype of COFG individuals harbouring biallelic MAB21L1 loss of function variants. (A–L) Depicted craniofacial dysmorphism, medially sparse/flared and laterally extending eyebrows, synophrys, buphthalmos, anteverted nares, long and tented philtrum, flat nasal bridge, low anterior hairline and horizontal nystagmus with strabismus (A–D: individuals from family 1; E–H and Aa: individual 4_V:1 from 7 years of age to adulthood; I, J, Ab: individual 5_IV:1 from childhood to adulthood; K, L: individual 4_IV.4 from childhood to adulthood, M: individual 3_II.3). Widely spaced hypoplastic nipples with no noticeable areolae or hyperpigmentation and a tuft of terminal hair extruding from the lactiferous ducts (N: individual 1_VI:7; O: individual 4_V:1; P: 5_IV:4). Undescended testes, bilateral scrotal agenesis with normal median raphe in individual 1_VI:2 (Q), 4_V:1 (R), 5_IV:4 (S). Absence of labia majora and small labia minora in individuals 1_VI:5 (T) and 5_IV:1 (U). Corneal opacities in individual 1_VI:7 (V) and individual 5_IV:1. (V`). Cerebellar hypoplasia with absence/hypoplasia of the vermis in individuals 2_II:3 (W, X), 4_V:1 (Z, I_IV.V). Optic atrophy in individual 2_II:3 (Y). COFG, Cerebello-Oculo-Facio-Genital.