case_images: PMC11727325_01
case_images: A-B Facial images at 5 days. C Facial image at 10 months. D-E Bilateral syndactyly of toes 2 and 3. F-G Brain MR image at 14 months of age showing corpus callosum hypoplasia and cerebellar hypoplasia. H Schematic of the CDK13 protein showing published loss-of-function and splice variants, as well as missense variants in the kinase domain associated with CHDFIDD. The hypomorphic variant p.Ala777Gly is highlighted in red
case_images: 13148_2024_1807_Fig1_HTML.jpg
case_images: PMC11727325_01_13148_2024_1807_Fig1_HTML.jpg
case_images: Fig1
case_images: Photographs and brain MR images are shown in Fig. 1.