| A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability with characteristics of global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. |
