All individuals with variants in gene CAPRIN1

24 entries on 1 page. Showing entries 1 - 24.
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00231336 Pat32 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00416201 Pat1 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents M - Italy white - - - - NDD see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; no intellectual disability; attention deficit hyperactivity disorder; no developmental delay; speech dyspraxia; MRI brain normal; no seizures; no hand/feet malformations; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; cafe-au-lait spot 1 1 Lisa Pavinato
00416202 Pat2 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected carrier mother M - Canada Jamaica - - - - NDD see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; developmental delay; MRI brain white matter gliosis; seizures; EEG anomalies; hands bilateral clinodactyly of the V digit, feet small sandal gap and mild bilateral V digit brachydactyly; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; feeding difficulties 1 1 Lisa Pavinato
00416203 Pat3 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents M - United States white - - - - NDD see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; developmental delay; no seizures; EEG normal; hands foetal pads; stubby fingers, feet clinodactyl y of the IV and V digit bilaterally; no skeletal malformations; no breathing problems; no ocular anomalies; right ear mild hearing loss; mild right hearing loss, high pain threshold 1 1 Lisa Pavinato
00416204 Pat4 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents F - Finland white - - - - NDD see paper; ..., 32w-brith; language impairment/delay; autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; no developmental delay; anxiety; MRI brain hypoplastic right olfactory bulb; seizures; EEG normal; hands clinodactyly, short V digits bilaterally, right hand single palmar crease, very short distal phalanx and hypoplastic nail; mild kyphoscoliosis, U-shaped cleft palate, supernumerar y tooth; obstructive sleep apnoea, sudden chocking spells; astigmatism, myopia; required myringotomy during infancy; gastrointestinal issues 1 1 Lisa Pavinato
00416205 Pat5 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents M - Netherlands white;China - - - - NDD see paper; ..., postnatal saturation dips; language impairment/delay; autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; no seizures; EEG normal; flexible joints of hands and feet; no skeletal malformations; respiratory difficulties at birth, mild asthmatic symptoms; hypermetropia, strabismus; no hearing problems; feeding difficulties 1 1 Lisa Pavinato
00416206 Pat6 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents F - United States white - - - - NDD see paper; ..., difficulties with respiration and required stimulation after birth; language impairment/delay; no autism spectrum disorder; no intellectual disability; attention deficit hyperactivity disorder; no developmental delay; dyslexia; no seizures; no hand/feet malformations; no skeletal malformations; respiratory difficulties at birth; no ocular anomalies; no hearing problems 1 1 Lisa Pavinato
00416207 Pat7 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents M - Netherlands white - - - - NDD see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; severe intellectual disability; no developmental delay; no seizures; no hand/feet malformations; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems 1 1 Lisa Pavinato
00416208 Pat8 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents M - Canada India-E - - - - NDD see paper; ..., birth respiratory distress; language impairment/delay; autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; no developmental delay; no seizures; no hand/feet malformations; no skeletal malformations; respiratory distress at birth; no ocular anomalies; no hearing problems; gastrointestinal issues 1 1 Lisa Pavinato
00416209 Pat9 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, affected father/son M - France white - - - - NDD see paper; ..., birth need for aspiration before spontaneous breathing; language impairment/delay; no autism spectrum disorder; moderate intellectual disability; attention deficit hyperactivity disorder; developmental delay; restlessness; MRI brain normal; no seizures; hands foetal pads, feet overlap of 2nd digit on 3rd one (present also in the mother); mild pectus excavatum, U- shaped cleft palate, supernumerary central incisors; need for aspiration before spontaneous breathing at birth; strabismus, astigmatism; no hearing problems; cafe-au-lait spot 1 2 Lisa Pavinato
00416210 Pat10 PubMed: Pavinato 2022, Journal: Pavinato 2022 father M - France white - - - - NDD see paper; ..., incubator at birth, transitory use of oxygen mask; language impairment/delay; no autism spectrum disorder; mild intellectual disability; attention deficit hyperactivity disorder; no developmental delay; hetero aggressivity during adolescence; no seizures; no hand/feet malformations; no skeletal malformations; recurrent viral lung infections; strabismus, presbyopia; left ear hearing loss of about 30% 1 1 Lisa Pavinato
00416211 Pat11 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents M - Greece white - - - - NDD see paper; ..., normal birth; language impairment/delay; autism spectrum disorder; mild intellectual disability; no attention deficit hyperactivity disorder; developmental delay; anxiety, episodes of aggressivity; MRI brain mild thinner corpus callosum, small supernumerary cavum veli interpositum, increased T2 and FLAIR signals in lateral periventricular spaces, related with existence of perivascular areas and terminal myelination zones; seizures; EEG anomalies; no hand/feet malformations; no skeletal malformations; no breathing problems; no ocular anomalies; no hearing problems; cafe-au-lait spot 1 1 Lisa Pavinato
00416212 Pat12 PubMed: Pavinato 2022, Journal: Pavinato 2022 2 generation family, 1 affected, unaffected non carrier parents F - Italy white - - - - NDD see paper; ..., normal birth; language impairment/delay; no autism spectrum disorder; severe intellectual disability; attention deficit hyperactivity disorder; no developmental delay; aggressive behaviour; MRI brain hypoplastic corpus callosum rostrum; seizures; EEG anomalies; hand triphalangeal thumb, feet bilateral enlargement of I digit; scoliosis; no breathing problems; no ocular anomalies; no hearing problems 1 1 Lisa Pavinato
00434877 CMC33 PubMed: Gostain 2020 - M - Canada - - - - - ? arthrogryposis, hypotonia 1 1 Johan den Dunnen
00470329 FamAPatII3 PubMed: Delle Vedove 2022 2-generation family, 1 affected, unaffected non-carrier parents F - Turkey - - - - - NDD see paper; ..., 10y-gait abnormalities, proximal muscle weakness, positive Gower’s sign; increasing muscle weakness, ataxia, light tremor, dysdiadochokinesis; scoliosis, confined to wheelchair and later confined to bed; dysphagia, dysarthria; 16y-cerebral atrophy, cerebellar atrophy 1 1 Johan den Dunnen
00470330 FamBPatII2 PubMed: Delle Vedove 2022 2-generation family, 1 affected, unaffected non-carrier parents M - Italy - - - - - NDD see paper; ..., first words with slight phonetic problems, 4y-dysarthria; 7y-slowly progressive ataxia, learning difficulties (IQ77); 11y-trunk stability worsened, standing up difficult; 12y-MRI global cerebellar atrophy; 13y-increased muscle fatigue, muscle hypotrophy, absent deep tendon reflexes all four limbs, increasingly anxious (improved with psychotherapy) 1 1 Johan den Dunnen
00470331 patient PubMed: Bove 2025 2-generation family, 1 affected, unaffected non-carrier mother F - Italy - - - - - NDD see paper; ..., 8y-insidious motor clumsiness; 10y-gait instability, recurrent falls; cognitive decline, learning difficulties, language difficulties, IQ65; 11y-mild generalized ataxia, bradykinesia, osteotendinous hyporeflexia, mild muscle atrophy; spontaneous and evoked arrhythmic muscle jerks upper limbs, EEG bilateral spike–wave; MRI brain progressive frontal lobe, cerebellar atrophy 1 1 Johan den Dunnen
00470332 Pat3 PubMed: Delle Vedove 2022 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDD cerebellar atrophy, ataxia, motor to sensory axonal neuropathy 1 1 Johan den Dunnen
00470333 DDD13k.03551 PubMed: Jia 2022, PubMed: Joanna 2020 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., intellectual disability, deveopmental delay 1 1 Johan den Dunnen
00470334 rumc_patient_1542 PubMed: Jia 2022, PubMed: Joanna 2020 - - - Netherlands - - - - - NDD see paper; ..., intellectual disability, deveopmental delay 1 1 Johan den Dunnen
00470335 2-1305-003 PubMed: Jia 2022, PubMed: Yuen 2017 - - - - - - - - - NDD see paper; ..., autism spectrum disorder 1 1 Johan den Dunnen
00470336 DDD4K.01640 PubMed: Jia 2022, PubMed: McRae 2017 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., intellectual disability, deveopmental delay 1 1 Johan den Dunnen
00470337 76481 PubMed: Jia 2022, PubMed: Joanna 2020 - - - - - - - - - NDD see paper; ..., intellectual disability, deveopmental delay 1 1 Johan den Dunnen
00470338 DDD4K.01994 PubMed: Jia 2022, PubMed: McRae 2017 - - - United Kingdom (Great Britain) - - - - - NDD see paper; ..., intellectual disability, deveopmental delay 1 1 Johan den Dunnen
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