The phenotypical spectrum includes developmental delay/intellectual disability, cerebellar signs, macrocephaly, short stature, obesity, hypogonadotrophic hypogonadism, dysmorphic features, aggressive outbursts, seizures. Brain MRI can show major abnormalities (malformations of cortical development, ventriculomegaly, brain atrophy) or normal/minor abnormalities (cavum vergae, cavum septum pellucidum, thin corpus callosum and enlargement of the cisterna magna).
CUL4B