All individuals with variants in gene UBAP2L

14 entries on 1 page. Showing entries 1 - 14.
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00104567 - - - M ? France - - - - - autism - 1 1 Karine Poirier
00457299 - - - M - China - - - - - NDD - 1 1 Qi Yang
00457343 Pat1 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China Asia - - - - NDD see paper; ..., birth 36w+1; prenatal IUGR, SGA, premature, short femur (prenatal ultrasound); Infant feeding difficulties; failure to thrive; speech problems; motor delay; intellectual disability; no regression of developmental milestones; global developmental delay; no anxiety; no ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; +(39 cm(<<1st centile)-2Y3M; 41 cm(<<1st centile)-3Y9M;); MRI brain normal; no seizures; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; no gastrointestinal disturbance; mild strephenopodia; congenital abnormal eye development (nystagmus, leukoma,esotropia); no hearing impairment; no hypotonia; round face, asymmetrical palpebral fissure, cup ears, low front hairline, deviated mouth, deep and prominent concha 1 1 Johan den Dunnen
00457344 Pat2 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China Asia - - - - NDD see paper; ..., no motor delay; intellectual disability; no regression of developmental milestones; no ADHD; repetitive behavior; obsessive behavior; no aggressive behavior; no self-injury behavior; MRI brain normal; no seizures; no epilepsy; no sleep disturbances; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no hypotonia 1 1 Johan den Dunnen
00457345 Pat3 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white - - - - NDD see paper; ..., prenatal significant tremor at birth, cyanotic episodes, iInfantile shudder; Infant feeding difficulties; speech problems, 1y-first words, 3y-2-3 words; mild delayed in fine and gross motor skills; 10m-sitting, 15m-walk, >2y-up and down stair, 4y-write; mild developmental delay; ADHD; febrile seizures; lower limb skeletal anomalies (metatarsal adducts, femoral anteversion, tibia torsion); hypotonia 1 1 Johan den Dunnen
00457346 Pat4 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy white - - - - NDD see paper; ..., birth 39w; Infant feeding difficulties; failure to thrive; speech problems; no motor delay; no intellectual disability; no regression of developmental milestones; developmental delay; no anxiety; ADHD; repetitive behavior, echolalia; no obsessive behavior; aggressive behavior; no self-injury behavior; no macrocephaly; -(50 cm(40th centile)); MRI brain cavum septum pellucidum; EEG brain normal; no seizures; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; gastroesophageal reflux; brachydactyl, joint stiffness (hands, elbows, knees, and feet), symphalangism of thumb; mild hypermetropic astigmatism; no hearing impairment; no hypotonia; mild synophrys, upslanting palpebral fissures, deep and prominent concha; hypertrichosis 1 1 Johan den Dunnen
00457347 Pat5 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy white - - - - NDD see paper; ..., birth 38w; no prenatal anomalies; no Infant feeding difficulties; no failure to thrive; receptive language test 75/80; motor delay; intellectual disability; no regression of developmental milestones; no anxiety; no ADHD; repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; +(52 cm(3rd centile); MRI brain malacic lesion at white mater of right occipital horn, ex-vacuo dilation of right occipital horn; EEG brain spike-wave discharges in precentral areas and temporal area; 1y-tonic-clonic seizures during fever and without feve, seizures mainly affected one hemisoma, 3y-absence seizures; epilepsy; no sleep disturbances; oromandibular dystonia; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; mild synophrys; three cafe-au-lait spots and one hypochromic macula 1 1 Johan den Dunnen
00457348 Pat6 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - NDD see paper; ..., birth 38w; Infant feeding difficulties; speech problems; motor delay, 18m-walk; mild intellectual disability; anxiety; no ADHD; no repetitive behavior; no aggressive behavior; emotional; -; seizures; epilepsy; no short stature; no skeletal alterations; no visual impairment; hypotonia; large front horizontal eyelashes, hypertelorism, broad nasal bridge, ears small helix (scrumpled); hyperplasia congenital surrenales 1 1 Johan den Dunnen
00457349 Pat7 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States French-Canadian - - - - NDD see paper; ..., birth 35w; prenatal breech; no Infant feeding difficulties; no failure to thrive; speech delay, 4y-talking; motor delay, 15m-walk; intellectual disability, 15y-functioning at level of 9-10y; no regression of developmental milestones; poor effort tolerance; anxiety; ADHD (iInattentive type); no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; 15y8m-no macrocephaly, OFC 74th centile; -; MRI brain normal; EEG brain normal; no seizures; no epilepsy; 10m-sleep apnea requiring nasal CPAP; metopic craniosynostosis, mild trigonocephaly; no short stature; no congenital heart defects; hyperphagia, prior history of abdominal with diarrhea alternating with constipation; scoliosis (14 degrees), kyphosis (42 degrees); hypermetropia, blinks very frequently; hyperacousia; long face with facial asymmetry, palpebral fissures are straight(interpupillary distance is 53 mm), tubular nose, thin upper lip, mild eversion of lower vermillion, high-arched palate, prominent chin, facial hair, small ears 1 1 Johan den Dunnen
00457350 Pat8 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - NDD see paper; ..., birth 38w; Infant feeding difficulties; stuttering speech; no motor delay; no intellectual disability; no regression of developmental milestones; no anxiety; no ADHD; repetitive behavior; no obsessive behavior; aggressive behavior; no self-injury behavior; no macrocephaly, OFC 56.9 cm(91th centile); -; MRI brain normal; no seizures; no epilepsy; daytime sleepiness; no short stature; no congenital heart defects; no gastrointestinal disturbance; corrected visual impairment; no hearing impairment; respiratory problems (including chronic bronchitis); 13y-head injury 1 1 Johan den Dunnen
00457351 Pat9 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Netherlands - - - - - NDD see paper; ..., birth 40w; Infant feeding difficulties; failure to thrive; speech problems, 2y6m-first words; motor delay, 12m-sit, 17m-stand, 22m-walk without support; intellectual disability; no regression of developmental milestones; developmental delay; no anxiety; no ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; no macrocephaly; -(55.3 cm(55th centile)-13Y9M); MRI brain mild vermis hypoplasia and a thin corpus callosum, no structural abnormalities; EEG brain generalized background slowing; epileptic seizures only one time; no epilepsy; no sleep disturbances; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; myopia (-2D L and R)); no hearing impairment; hypotonia; broad forehead, small palpebral fissure, cow's lick on forehead, deep and prominent concha 1 1 Johan den Dunnen
00457352 Pat10 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States white - - - - NDD see paper; ..., birth 38w+5; Infant feeding difficulties; no failure to thrive; marked speech delay; marked motor delay; intellectual disability; no regression of developmental milestones; delayed closing anterior fontanelle; ADHD; no repetitive behavior; no obsessive behavior; no aggressive behavior; no self-injury behavior; diagnosed with unspecified behavioral and emotional disorders; no macrocephaly; +; MRI brain normal; hHistory one febrile seizure brought on by 104 degree fever; no epilepsy; no sleep disturbances; short stature; no congenital heart defects; acid reflux issues were noted shortly after birth; no skeletal alterations; exotropia right eye; no hearing impairment; flat face, deep set eyes, hypertelorism, bulbous nose, long philtrum, thin upper lip, low-set and posteriorly rotated ears, deep and prominent concha, broad forehead 1 1 Johan den Dunnen
00457353 Pat11 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - NDD see paper; ..., birth 32w+6; no Infant feeding difficulties; no failure to thrive; speech problems; no motor delay; intellectual disability; no regression of developmental milestones; no anxiety; ADHD; no repetitive behavior; no obsessive behavior; aggressive behavior; no self-injury behavior; macrocephaly, OFC 52cm (+1 SD); -; MRI brain normal; EEG brain normal; febrile seizures, 18m-first seizure; no sleep disturbances; oppositional and provocation; no short stature; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no hypotonia; epicanthus; recurrent urinary tract infections; asthma; 3y-huge gain of weight 1 1 Johan den Dunnen
00457354 Pat12 PubMed: Jia 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white;Poland - - - - NDD see paper; ..., birth 32w+6; prenatal IUGR, premature, anhydramnios after AROM with CAF; Infant feeding difficulties; failure to thrive; speech problems, 60 words in vocabulary; motor delay; speech regression; anxiety; trichotillomania; no macrocephaly; -(10th centile); MRI brain normal; EEG brain generalized high amplitude spikes, poly spike, slow wave discharges, bilateral OIRDA; convulsive seizure with flu; symptomatic generalized epilepsy, non-convulsive absence seizures; hyporeflexia; short stature; hypotonia; medial eyebrow flare, hypertelorism, wide nasal root, depressed nasal tip, high broad forehead; cutis marmorata 1 1 Johan den Dunnen
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