All individuals with variants in gene KCNK9

2 entries on 1 page. Showing entries 1 - 2.
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00305912 Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - 0 - - NDD, VMD no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal 1 1 Johan den Dunnen
00401509 122P - - M no Spain - - - - - ID, Birk-Barel mental retardation dysmorphism syndrome - 1 1 Alejandro Brea-Fernández
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