Pubertal delay due to apparent hypogonadotrophic hypogonadism was described in two of the siblings, but biochemical data showing abnormal gonadotropin secretion and details of pubertal development and any treatment required to progress puberty were not provided.23 During the submission process of the current paper, another patient with severe primordial microcephalic dwarfism and intellectual disability was reported to be carrying compound heterozygous variants in RNPC3. Here, RNPC3 is linked to microcephalic primordial dwarfism.