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case_images: PMC10497045_02
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case_images: Severe neurodevelopmental delay observed in the child.
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case_images: There were significant delays in cognitive, language, and motor development (Figure 1).
case_images: Craniofacial features of the child.
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case_images: There were abnormalities in the child's craniofacial and skin features (Figure 2), including a slightly wide forehead, a short face, sparse eyebrows, narrow coloboma of eyelids, and a hypertrophy and depressed bridge of the nose.
case_images: Skin of the auricles and the front of the ears observed in the child.
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case_images: The skin of the auricles, the front of the ears, and on the extended surface of the limbs felt grainy like sand (Figure 3).  
case_images: Inconsistent head circumference, abdominal circumference, height and weight, and abnormal posture observed in the child.
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case_images: Growth retardation was also observed but did not correlate with appetite (Figure 4). 
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case_images: The SNV and InDel maps of genes in the child and parents. (A) Child; (B) Father; (C) Mother.
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case_images: Due to the multi-system abnormality, we performed whole exome sequencing, and the results showed one pathogenic variant of MAP2K1 (Figure 5), specifically chr15: 66436843-66436843, exon3, NM 002755.4c.389A>G:p.Y130C, missense variant.