Fig. 1: Clinical and Genetic Findings of the Patient. | Human Genome Variation

Fig. 1: Clinical and Genetic Findings of the Patient.

From: Mitochondrial dysfunction in MED13 variant-associated disease: a case of infantile spasms, cardiomyopathy and hepatomegaly

Fig. 1: Clinical and Genetic Findings of the Patient.The alternative text for this image may have been generated using AI.

A–C Facial appearance at 3 months was marked by hypertelorism, low-set ears, a broad nasal root and thin upper lip. D Sacral dimple in the lumbosacral region. E, F Brain MRI (T1-weighted images) at 4 months revealed corpus callosum hypoplasia and bilateral ventricular enlargement. G Family pedigree of the index case. Sanger sequencing revealed a de novo missense variant of MED13 in the patient. WT, wild type; Var, variant; pt, patient; fa, father; mo, mother.

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