Clinical features of early myoclonic encephalopathy caused by a CDKL5 mutation

Cerebral Visual Impairment in CDKL5 Deficiency Disorder Correlates With Developmental Achievement

“…11 -13 Developmentally, most children with CDKL5 deficiency disorder never achieve independent ambulation or complex speech. 4,14,15 Cerebral visual impairment, a brain-based disorder of vision, has recently been recognized as an additional common feature of CDKL5 deficiency disorder, with evidence of suggesting that as many as 75% children with CDKL5 deficiency disorder suffering some degree of cerebral visual impairment. 16,17…”