ZNF148

Clinical Characteristics

Children with the ZNF148 gene-related disorder have developmental delay (a child’s delay in the acquisition of abilities such as walking or speaking) and develop mild to moderate intellectual disability (characterized by limitations in intellectual functions, difficulties with learning, difficulties with adapting in social situations etc.). They remain small (short stature) and may have a smaller head size (microcephaly). Some children may have involvement of other organs such the heart or the kidneys.