All individuals with variants in gene CSNK2B

14 entries on 1 page. Showing entries 1 - 14.
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00104565 28585349-FamPat2 PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - ID born at term, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay10m-crawling, 18m walking; 18m myoclonic epilepsy; 4y brain MRI normal, ECG generalized spike/(poly)spike waves discharges; 7y difficulty speech/language/walking, no pyramidal and cerebellar syndromes; 12y never seizure-free (1 every 10d; 19y minor facial dysmorphy, dental anomalies, strabismus, down turned corners mouth 1 1 Karine Poirier
00104566 28585349-FamPat1 PubMed: Poirier 2017, Journal: Poirier 2017 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - - - - - ID born at term after, uneventful pregnancy; birth weight/height/head circumference normal; mild developmental delay, hypotonia, lingual protrusion; 11m-crawling, 24m-walking; 6y-intellectual disability, severe attention and learning difficulties, autistic traits preferring to be alone; 7y-started to speak few words; 10y facial dysmorphy with mandibular prognathism, open mouth fixed O position, protruded tongue, bushy eyebrows, flat philtrum; MRI brain and ECG normal; metabolic investigations normal except rISED serum creatine phosphokinase (341IU) 1 1 Karine Poirier
00226156 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00226157 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00226158 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00226159 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00226160 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00226161 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00226162 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00226163 - - - - - China - - - - - epilepsy - 1 1 Jinliang Li
00408813 196081 - - M no Germany - - - - - POBINDS Seizure, Focal-onset seizure, Neurodevelopmental delay, Delayed speech and language development 1 1 Andreas Laner
00454826 FamPat2 PubMed: Dekker 2023 2-generation family, affected sister/brother and father F no Netherlands - - - - - NDD see paper; ..., intellectual disability, epilepsy, hypotonia, hypermobile joints; bushy eyebrows, short philtrum, large nose, broad nasal tip, large incisors, clinodactyly digits 1-4-4 1 3 Johan den Dunnen
00454827 FamPatB PubMed: Dekker 2023 brother M no Netherlands - - - - - NDD see paper; ..., similar, more severe phenotype as sister, died of pneumonia in adulthood 1 1 Johan den Dunnen
00454828 FamPatF PubMed: Dekker 2023 father M no Netherlands - - - - - NDD see paper; ..., behavioral problems, mild intellectual disability premature memory loss 1 1 Johan den Dunnen
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