FIGURE

Fig. 2

ID

ZDB-FIG-241119-129

Publication

Li et al., 2024 - Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

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Fig. 2

Clinical features of the patients homozygous for GON4L variants.Photographs of the face of Patient 1 at the age of 10 months (a) and 9 years and 6 months (b). He showed left microphthalmia. c Brain MRI of Patient 1 at the age of 5 months showed simplified gyral pattern. d Three-dimensional cranial CT images of Patient 1 at 10 months indicated metopic craniosynostosis. e Full picture of Patient 2 (left) and 3 (right). f, g Front and side of the face of Patient 2 at the age of 13 years old. She showed asymmetric face, a high forehead, thick eyebrows, upward slanting palpebral fissures, strabismus, broad nasal root, a broad nose with a beaked tip, deviated nasal septum, a prominent left cheek, short philtrum, thin upper lip, everted lower vermillion, broad chin, and low-set ears with folded helix. h, i Front and side of the face of Patient 3 at the age of 8 years. He shows dysmorphic features similar to Patient 2. Long fingers (j) and deviated feet with pes planus (k) of Patient 2. l, m Dorsum and palma of the hand with incomplete single transverse crease of Patient 3. Brain MRI of Patient 3 at the age of 6 [Axial T1- (n) and Sagittal T2-weighted (o)]. Deep Sylvian fissure is indicated by an arrow.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ NPJ Genom Med