Fig. 1
From: A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report
Characteristics of the 18-month-old male patient with AHDS. A Pedigrees of the AHDS patient. He harbored the variant from his healthy mother. Symbols and nomenclature follow standardized human pedigree nomenclature [13]. B Chromatograms of SLC16A2 variants identified in the patient. C Photograph of the patient at 18-month-old. He couldn’t hold his head steady. D MRI of the patient showed delayed myelination and mild cortical atrophy at 6-months old and worsening cortical atrophy at 18-months old. E, Dystonic posturing of the hands