Fig. 2

Representative images of cases with class 2 and 3 phenotypes. a Clinical images of the proband with TXNRD2 pathogenic variant showing dysmorphic facies and a large umbilical hernia. b The two siblings with SCLT1 pathogenic variant showing absence of the anterior lobe of pituitary gland with the evidence of ectopia of the posterior pituitary gland and thalamic hamartoma. c Three families are with CDK9-related CHARGE-like phenotype showing cerebellar atrophy, unilateral choanal atresia, and dysplastic atrophic kidney. d Brain magnetic resonance image (MRI) of proband with pathogenic variant in PARS2 showing severe cerebral volume loss indicating severe brain atrophy, thinning of the corpus callosum, and severe cerebral volume loss in the supratentorial and infratentorial area. e Clinical images of the proband with PLOD3 pathogenic variant showing dysmorphic facies (prominent forehead, short and flat nose, ptosis with compensatory arching of eyebrows, posteriorly rotated low set ears) and hand contractures. f Facial features and MRI images of proband with DMXL2 pathogenic variant represent long face, high forehead, short philtrum, low set ears, and moderate degree of cerebral and brainstem atrophy. g Brain MRI image showing small atrophic cerebellum with prominence of the posterior fossa cerebrospinal fluid (CSF) spaces in the proband with GEMIN4 pathogenic variant. h Facial pictures of index (16DG0071) subject with ABCA2 showing apparent lack of gross dysmorphism.