All individuals with variants in gene KCNK9

4 entries on 1 page. Showing entries 1 - 4.
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00305912 Pat4 PubMed: Marcogliese 2018 2-generation family, 1 affected, unaffected parents F - - - - - - - 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
00472254 - Verebi et al. (submitted) - F - France - - - - - Birk-Barel mental retardation dysmorphism syndrome 0001290: Generalised hypotonia, 0001270: Motor delay, 0003701: Proximal muscle weakness 1 1 Camille Verebi
00475186 Pat24 PubMed: Radio 2021 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., no late-closing anterior fontanel; no high anterior hairline; normal frontal hairline; no bitemporal narrowing; no frontal bossing; no sparse eyebrows; no arched eyebrows; no synophrys; no wide set eyes/telecanthus; no epicanthus; normal palpebral fissures; no upslanting palpebral fissures; no low-set ears; no uplifted earlobe; no large earlobe; no slightly over-folded superior helices; no prominent nasal tip; no flattened nasal bridge; no bulbous nose; no anteverted nares; no choanal atresia; normal vermilion; normal philtrum; no thin upper lip; no gingival overgrowth; normal teeth; no micrognathia; no cleft lip/ cleft palate; no high/narrow palate; no pointed chin; global developmental delay; borderline intellectual disability; delayed gross motor skills; delayed fine motor skills; no language delay, difficulties telling stories/finding words related to autism; autism spectrum disorder; autism spectrum disorder; hypotonia; no seizures; normal pyramidal signs; wide based gait; no hemiparesis; arachnoid cyst temporal left; no cardiac features; no congenital heart defects; no gastro-intestinal features; no exotropia, no strabismus; no myopia; no coloboma, no microphthalmia; normal iris; mild hypermetropia, astigmatism ODS; no pectus excavatum; no pes cavus; no scoliosis, no kyphosis; generalized hypermobility; no feeding problkems, no swallowing problems; no neonatal asphyxia; no hearing loss; no vascular abnormalities; normal skin; no precocious puberty; fatigue, bronchial hyperreactivity 1 1 Johan den Dunnen
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