Clinical Characteristics

With to date only two individuals from independent families being published, only limited information on the phenotypic spectrum of CCDC186 associated developmental and epileptic encephalopathy (DEE) is available. Core symptoms seem to comprise failure to thrive, severe global developmental delay, epilepsy, muscular hypotonia and brain atrophy upon MRI. Additional findings might include pulmonary artery stenosis, poor vision, microcephaly, exocrine pancreatic insufficiency, urogenital abnormalities and endocrine abnormalities including hypothyroidism and endocrine pancreatic insufficiency.