All individuals with variants in gene CLTC

19 entries on 1 page. Showing entries 1 - 19.
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00303067 Pat109 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy (presumably focal); age onset unknown 1 1 Johan den Dunnen
00305524 Individual 10 PubMed: Vissers 2020 2-generation family, 1 affected, adopted F - - - - - - - NDD birth at term, weight 3530 (normal); height 133.6 (normal) growth hormone treatment, weight 25 (normal), OFC 53.4 (normal); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; epilepsy, mildly abnormal EEG; hypotonia; no spasticity; ataxia; Repetitive behavior, self mutilation, sensory processing problems, episodes of rocking/head banging; Severe: can go without sleep for days, sleeps 3no sleep disturbances5 hours in a night; facial abnormalities; Still's murmur, 1st degree AV block, enlarged coronary sinus suggestive of persistent LSVC (hemodynamically insignificant); Nocturnal incontinence, overactive bladder; Constipation; no pulmomal abnormalities; Raspberry and seasonal allergy, frequent fevers and vomiting; Growth hormone therapy; Bowing of legs, hyperextensible legs, general hypermobility, long neck, removal of benign cyst from neck, able to dislocate jaw, bruises very easily; no hearing abnormalities; Esotropia, hypermetropia of both eyes; Hirsutism, delayed dentition, all toenails mildly dysplastic, hypoplasia of 5th toenail bilaterally; Tapered fingers, pes planus bilaterally; Regression of speech and motor milestones; MRI-brain no holoprosencephaly, L frontal lobe grey matter heterotopia 1 1 Johan den Dunnen
00431256 194685 - - M yes - - - - - - MRD56 Intellectual disability, mild, Global developmental delay, Cerebellar atrophy, Congenital contracture 1 1 Andreas Laner
00438603 HSC0054 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE see paper; ..., global developmental delay, moderate intellectual disability; 5m-seizure; EEG generalized spike-wave, poly-spike and wave; MRI brain delayed myelination, 20y-normal; neonatal hypotonia, scoliosis, intractable seizures until puberty, no seizures under LEV and LTG 1 1 Johan den Dunnen
00438742 PBSD PubMed: Hamdan 2017 - F - United States - - - - - DEE see paper; ..., global developmental delay, 5y-borderline intellectual disability; no seizures; MRI brain T2 hypersignal in white matter (hypomyelination); ADHD, impulsivity, poor socialization skills, mild hypotonia, wide-based gait 1 1 Johan den Dunnen
00438743 5289183 PubMed: Hamdan 2017 - M - United States Jew-Ashkenazi - - - - DEE see paper; ..., bordeline intellectual disability, learning disabilities; 14y-1 seizure; EEG normal; MRI brain normal; progressive paraparesis with lower-limb spasticity, ataxia, myoclonus, one seizure without recurrence under LEV, no seizures for 4 years off meds 1 1 Johan den Dunnen
00438744 indvAA PubMed: Hamdan 2017 - M - Netherlands - - - - - DEE see paper; ..., global developmental delay; no seizures; EEG normal; MRI brain normal; mild ataxia, possible myoclonus 1 1 Johan den Dunnen
00438745 CAUSES1 PubMed: Hamdan 2017 - M - - - - - - - DEE see paper; ..., global developmental delay, suspected intellectual disability; no seizures; MRI brain normal; mild hypotonia, oral and motor apraxia, suspected ADHD 1 1 Johan den Dunnen
00438746 18052017 PubMed: Hamdan 2017 - F - - - - - - - DEE see paper; ..., moderate intellectual disability; no seizures; EEG normal; MRI brain; normal; bradykinesia, bradypsychism, hypomimia, hypokinesia, clumsiness, attention instability 1 1 Johan den Dunnen
00438748 indvPAR PubMed: Hamdan 2017 - M - - - - - - - ID see paper; ..., severe intellectual disability; 1y-seizure; EEG non-specific irritative pattern, no foci; MRI brain thin/short corpus callosum with hypoplasia posterior part, wide Virchow-Robin spaces; neonatal-onset hypotonia, no speech, acquired microcephaly, severe gastroinstestinal reflux, no seizures under VPA 1 1 Johan den Dunnen
00438749 DDD261801 PubMed: Hamdan 2017 - M - United Kingdom (Great Britain) - - - - - ID see paper; ..., mild global developmental delay, mild intellectual disability; no seizures; MRI brain normal; neonatal-onset hypotonia, congenital ptosis, poor social skills 1 1 Johan den Dunnen
00438750 273692 PubMed: Hamdan 2017 - M - - - - - - - DEE see paper; ..., severe global developmental delay, suspected severe intellectual disability; 2y-seizure; EEG abnormal; MRI brain pontocerebellar atrophy, delayed myelination; non-ambulation, spasticity, dystonia, myoclonus, neonatal feeding difficulties, visual impairment, seizure control with LEV 1 1 Johan den Dunnen
00438751 indvMB PubMed: Hamdan 2017 - F - - - - - - - DEE see paper; ..., global developmental delay, severe intellectual disability; 3y-seizure; EEG multifocal spike-wave, bi-frontal predominance; MRI brain thin corpus calloum T2 hypersignal in white matter, enlarged lateral ventricles; acquired microcephaly, severe hypotonia, ataxia, oral and motor apraxia, intractable seizures 1 1 Johan den Dunnen
00438752 LDKQS PubMed: Hamdan 2017 - M - United States - - - - - ID see paper; ..., global developmental delay, moderate intellectual disability; no seizures; MRI brain normal; hypotonia, neonatal feeding difficulties, sensorineural hearing loss 1 1 Johan den Dunnen
00438753 DDD00280 PubMed: Hamdan 2017 - F - Netherlands - - - - - ID see paper; ..., global developmental delay, moderate/severe intellectual disability; no seizures; hypotonia 1 1 Johan den Dunnen
00438754 281177 PubMed: Hamdan 2017 - M - - - - - - - ID see paper; ..., moderate intellectual disability; no seizures; neonatal hypotonia 1 1 Johan den Dunnen
00452793 private email - contact me for details F - China - - - - - ? slowly sucking milk, sometimes cries loudly, suddenly raise both hands when sleeping; gradually, improved drinking milk 1 1 Johan den Dunnen
00460924 - - - - - Netherlands - - - - - ? - 1 1 Tjakko van Ham
00466036 - - - M - - (not applicable) white - - - - NDD HP:0010864, HP:0002342, HP:0100704, HP:0001250, HP:0002384, HP:0001252, HP:0000286, HP:0000582, HP:0001357, HP:0000545 1 1 Marketa Wayhelova
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