All individuals with variants in gene HNRNPU

23 entries on 1 page. Showing entries 1 - 23.
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00116985 S_500:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00144450 - - - ? - (Germany) - - - - - ? Seizures (HP:0001250); Global developmental delay (HP:0001263) 1 1 IMGAG
00235343 - - - F - - - - - - - ? Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Absence seizure (HP:0002121); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252) 1 1 IMGAG
00289796 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00302768 1464.524;Pat3 PubMed: Hamdan 2015, PubMed: Bramswig 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Canada - - - - - ID birth 41w, weight 3310g (-0.95); weight 17.7kg (+0.62), height 96cm (-1.75), OFC 48.6cm (-1.65); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; generalized tonic-clonic seizures, onset 12m; no prominent metopic ridge; deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; anteverted nares; no bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities; no short neck; low set ears; normal corpus callosum, Broad Sylvian fissures, enlarged sub-arachnoid spaces, discrete non-specific signal anomalies in the white matter in the periventricular region and the right frontal sub-cortical region; feeding difficulties; no hearing deficit; aortic dilatation; unilateral multicystic kidney; bilateral single palmar creases 1 1 Johan den Dunnen
00303109 T162 PubMed: Carvill 2013 2-generation family, 1 affected, unaffected parents M - - - - - - - EE seizures atonic (2y), atypical absence, myoclonic jerks, non-convulsive status epilepticus, tonic, tonic-clonic; EEG generalised spike wave, generalised polyspike wave, diffuse slowing, single spike wave, generalised paroxysmal fast activity; development prior to seizures delayed; Severe intellectual disability, regression 1 1 Johan den Dunnen
00305979 Pat10 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected parents M - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00309544 Pat2 PubMed: Sanchis-Juan 2018 - M - United Kingdom (Great Britain) - - - - - ? see paper; ..., tonic-clonic seizures; intellectual disability; learning difficulties 1 1 Johan den Dunnen
00314912 TrioN6 PubMed: Zhu 2015 - M - United States - - - - - ? Intellectual disability, epilepsy, panhypopituitarism, hypertension, bifid great toe, vertebral segmentation anomalies and sagittal cleft of the vertebra, hypoplastic 13th rib, and delayed bone age. 1 1 Johan den Dunnen
00332514 175443 - - M ? Germany - - - - - DEE54 (+) Seizure,(+) Global developmental delay,(+) Focal motor seizure,(+) Neonatal seizure 1 1 Andreas Laner
00374754 S-5913 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00416256 Pat15 PubMed: Monroe 2016 - F - Netherlands - - - - - ? intellectual deficit, short stature, macrocephaly, feeding problems, disturbed sleeping pattern, mobility problems requiring wheelchair use 1 1 Johan den Dunnen
00435499 Pat1;Pat17 PubMed: Bramswig 2017, PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - Germany - - - - - NDD see both papers; ..., birth 33w; language/speech delay, no speech; motor delay; severe intellectual disability (contributed by Pathogenic HNRNPU variant); no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebral atrophy, multiple lesions including glial lesions, atrophy of the cerebellar vermis, corpus callosum agenesis; no joint hypermobility; no syndactyly; scoliosis; no pectus excavatum; coarse face, deep set elanguage/speech delay, hypertelorism, depressed nasal bridge, short nose, anteverted nares, low set ears, thin upper and everted lower lip vermelion, teeth abnormalities; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (ASD II); neonatal feeding difficulties; agenesis right kidney 1 1 Johan den Dunnen
00435576 Pat2 PubMed: Bramswig 2017 2-generation family, 1 affected, unaffected non-carrier parents F no Netherlands - - - - - NDD see paper; ..., birth 40w, weight 2780g (-1.64), length 48cm (-1.68); weight 64.7kg (+0.57), height 151cm (-2.13), OFC 52cm (-1.8); severe intellectual disability; microcephaly; short stature; hypotonia; speech impairment, few words; no seizures, fever-related seizures with normal EEG at younger age; prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia, prominent jaw; teeth abnormalities, irregular, small palate; short neck, webbing; no ear abnormalities; feeding difficulties; no hearing deficit; pentalogy of Fallot; no renal abnormalities; short hands and feet, broad thumbs 1 1 Johan den Dunnen
00435577 hc;Pat4 PubMed: Epi4K Consortium. 2013, Journal: Epi4K Consortium. 2013, PubMed: Bramswig 2017 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., birth 40w, weight 2640g (-1.97), length 47cm (-2.13); weight 63.6kg (+0.84), height 146.5cm (-2.44), OFC 54.2cm (-0.19); severe intellectual disability; no microcephaly; short stature; hypotonia; speech impairment, 1-2 word utterances; generalized tonic-clonic seizures, atonic insults, absences, Lennox-Gastaut-like epilepsy, onset 62m; no prominent metopic ridge; deep set eyes; hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; no eversion of upper lip; no micro/retrognathia; teeth abnormalities; short neck; low set ears; normal corpus callosum, subependymal gray matter heterotopia, Chiari I malformation; no feeding difficulties; no hearing deficit; autism, aggressive behavior, odontogenic keratocyst 1 1 Johan den Dunnen
00435578 Pat5 PubMed: Bramswig 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - NDD see paper; ..., birth 34w, weight 1815g (-1.24); weight 1.89kg (-2.73), height 42cm (-3.42), OFC 27cm (-4.93); microcephaly; short stature; hypotonia; onset neonatal, focal myoclonic seizures; no prominent metopic ridge; no deep set eyes; hypertelorism; no depressed nasal bridge; short nose; no anteverted nares; bulbous nasal tip; long philtrum; thin upper vermillion; micro/retrognathia; short neck; low set ears, big ears; normal corpus callosum, cystic lesion between posterior fossa and 4th ventricle, Dandy Walker malformation; feeding difficulties; patent ductus arteriosus; renal pelvic ectasia; joint contractures, clonus on extremities, hypospadia, scrotal raffe, 10 ribs 1 1 Johan den Dunnen
00435579 Pat6 PubMed: Bramswig 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Netherlands - - - - - NDD see paper; ..., birth 38w, weight 3400g (+0.3), length 50cm (+0.13), OFC normal; weight 69kg (-0.55), height 175cm (-1.24), OFC 61cm (+1.81); severe intellectual disability; no microcephaly; no short stature; hypotonia; no speech; onset 10m, seizures, temporal epilepsy evolving into West syndrome, then into severe therapy resistant Lennox-Gastaut-like epilepsy with multiple daily absences, temporal tonic and infrequent atonic seizures sometimes fever-related.; no prominent metopic ridge; deep set eyes; hypertelorism; depressed nasal bridge; short nose; anteverted nares; bulbous nasal tip; no long philtrum; no thin upper vermillion; eversion of upper lip; no micro/retrognathia; teeth abnormalities, thick incisors, accessory incisor in palatum composed of several elements, diastemas between teeth; no short neck; low set ears, slightly overfolded helices; normal corpus callosum, wide ventricles, retarded frontal myelinisation, glandula pinealis cyst; no feeding difficulties; no hearing deficit; no cardiac abnormalities; regression in motor and speech development after onset of epilepsy, secondary osteoporosis, obstipation, rotatory nystagmus, cortical visual impairment 1 1 Johan den Dunnen
00435580 Pat7 PubMed: Bramswig 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NDD see paper; ..., birth 38w, weight 2835g (-1.08), length 48cm (-1.34), OFC 32.5cm (-1.71) ; weight 18kg (+1.6), height 96cm (-1), OFC 51cm (+1.02); severe intellectual disability; no microcephaly; no short stature; no hypotonia; speech impairment, words, short sentences; onset 11m, febrile tonic-clonic seizures and absences, later occurring without fever; no prominent metopic ridge; no deep set eyes; no hypertelorism; no depressed nasal bridge; no short nose; no anteverted nares; bulbous nasal tip; no long philtrum; thin upper vermillion; no eversion of upper lip; no micro/retrognathia; no teeth abnormalities, thick gums; no short neck; no ear abnormalities; normal corpus callosum; no feeding difficulties; no hearing deficit; no cardiac abnormalities; short and broad thumbs, columella thick, fleshy alae nasi 1 1 Johan den Dunnen
00438380 Pat99 PubMed: Chuan 2022 - M - China - - - - - epilepsy HP:0001250 seizures; HP:0002373 febrile seizures; HP:0011947 respiratory tract infection 1 1 Johan den Dunnen
00438382 Pat101 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0002353 eeg abnormality; HP:0010845 eeg with generalized slow activity; HP:0001873 thrombocytopenia; HP:0001945 fever; HP:0002181 cerebral edema; HP:0012387 bronchitis; HP:0100806 sepsis 1 1 Johan den Dunnen
00449798 - - - F - - (not applicable) white - - - - ID HP:0001250, HP:0001263, HP:0001256, HP:0000729, HP:0001252, HP:0000540, HP:0001382 1 1 Marketa Wayhelova
00455826 Pat66 PubMed: Salinas 2020 patient M - - - - - - - ? - 1 1 Johan den Dunnen
00462182 - - - F - - (not applicable) white - - - - ? HP:0000252, HP:0001249, HP:0001256, HP:0002389, HP:0004322 1 1 Marketa Wayhelova
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