All individuals with variants in gene DNM1

26 entries on 1 page. Showing entries 1 - 26.
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00050373 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members M - United Kingdom (Great Britain) - - - Decipher - ? cortical visual impairment, intellectual disability, seizures, macrocephaly 1 1 Johan den Dunnen
00050579 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, delayed speech and language development, flat occiput, strabismus, dental crowding, small earlobe, short finger, sandal gap, pes planus, drooling, bruxism 1 1 Johan den Dunnen
00050582 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? seizures, seizures, gingival overgrowth, abnormal palmar dermatoglyphics, clinodactyly of the 5th finger 1 1 Johan den Dunnen
00089212 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 mosaic parent F - - - - - - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00294745 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00303070 Pat112 PubMed: Helbig 2016 - - - United States - - - - - seizures Epileptic Encephalopathy, Infantile Spasms; age onset infantile 1 1 Johan den Dunnen
00374714 S-3761 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00426049 Pat1 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, generalized epilepsy, epileptic spasms, myoclonic seizures, subclinical seizures, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia, multifocal SW, poorly organized background; MRI brain markedly decreased cerebral volume, deficiency of white matter, small brainstem and corpus callosum 1 1 Johan den Dunnen
00426050 Pat2 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, combined epilepsy, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, significant irritability; EEG history hypsarrhythmia, multifocal SW, poorly organized background, excessive discontinuity; MRI brain 1y-normal 1 1 Johan den Dunnen
00426051 Pat3 PubMed: Parthasarathy 2022 - F - - - - - - - DEE 2m15d-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; ; ; profound hypotonia, cortical visual impairment 1 1 Johan den Dunnen
00426052 Pat4 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 6m-onset seizures, epileptic spasms, focal epilepsy, refractory initially, now seizure free; severe developmental delay, GMFCS V, CFCS IV; profound hypotonia, cortical visual impairment; EEG history hypsarrhythmia; MRI brain hypoplasia of corpus callosum and enlarged ventricles 1 1 Johan den Dunnen
00426053 Pat5 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal 1 1 Johan den Dunnen
00426054 Pat6 PubMed: Parthasarathy 2022 - M - - - - - - - DEE 2m-onset seizures, epileptic spasms, refractory; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus, pupils nonreactive; EEG history hypsarrhythmia, multifocal discharges; MRI brain 6m-normal 1 1 Johan den Dunnen
00426055 Pat7 PubMed: Parthasarathy 2022 - F - - - - - - - DEE 2m-onset seizures, myoclonic seizures, refractory; profound developmental delay, GMFCS V, CFCS V; profound hypotonia with peripheral spasticity; ; MRI brain normal 1 1 Johan den Dunnen
00426056 Pat8 PubMed: Parthasarathy 2022 - M - - - 2y8m - - - DEE 32m-deceased; 3m-onset seizures, myoclonic seizures, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; dystonic movement disorder, profound hypotonia, cortical visual impairment; EEG asynchrony, electroclinical myoclonic seizures; MRI brain diffuse cerebral atrophy 1 1 Johan den Dunnen
00426057 Pat9 PubMed: Parthasarathy 2022 - F - - - - - - - DEE 6m-onset seizures, no clinical seizures; profound developmental delay, GMFCS V, CFCS V, MiniMACS V; profound hypotonia, cortical visual impairment, nystagmus; EEG history hypsarrhythmia, mild background slowing, focal spikes and polyspikes; MRI brain abnormal diffusion restriction attributed to vigabatrin toxicity, delayed myelination, mild enlargement of ventricles, small corpus callosum 1 1 Johan den Dunnen
00426058 Pat10 PubMed: Parthasarathy 2022 - M - - - 10m - - - DEE 10m-deceased; 3m-onset seizures, epileptic spasms, focal seizures, refractory; profound developmental delay, GMFCS V, CFCS V; hyperkinetic dystonic movement disorder, profound hypotonia, cortical visual impairment; ; EEG hypsarrhythmia 1 1 Johan den Dunnen
00426059 Pat11 PubMed: Parthasarathy 2022 - F - - - - - - - DEE no seizures; mild developmental delay, GMFCS I, CFCS I, MACS II; mild hypotonia, behavioral problems; EEG moderate increase in beta frequencies; MRI brain 5y-normal 1 1 Johan den Dunnen
00427686 patient PubMed: Harms 2023 2-generation family, 1 affected, unaffected non carrier parents M no Germany white - - - - DEE see paper; ..., pregnancy uneventful; birth-42w, weight 3480g (− 0.28 z), length 54cm (0.75 z), OFC 36cm (0.55 z), first days breastfeeding difficult, bottle no problems; neonatal hypotonic, easily startled; 4w-twitching right leg, more frequent crying; 6w-prolonged seizure, hospital administration, no dysmorphic features; EEG immature irregular activity with multifocal/generalized epileptic discharges; MRI brain right choroidal fissure cyst;patent foramen ovale; >6w-frequent seizures (>100/day, myoclonic jerks, tonic clonic seizures, tonic seizures); 2y-normal growth, therapy-resistant epilepsy, no motor developmental milestones, no cognitive developmental milestones, severely hypotonic, no head control, subtle movements feet, no motor activity, no roll/crawl/sit/walk, no reaction visual/auditory stimuli, rare responses to tactile stimuli, gaze did not fix on objects, no speech development, frequent vomiting 1 1 Frederike Leonie Harms
00435217 Pat1 PubMed: Liu 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China Chinese - - - - DEE31A;EIEE31 - 1 1 Min Peng
00435218 Pat2 PubMed: Liu 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China Chinese - - - - DEE31A;EIEE31 - 1 1 Min Peng
00435219 Pat3 PubMed: Liu 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F no China Chinese - - - - DEE31A;EIEE31 - 1 1 Min Peng
00435220 4 4 4 F - China Chinese - - - - DEE31A;EIEE31 - 1 1 Min Peng
00438658 HSJ0461 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00458523 Pat3 PubMed: Devanna 2018 2-generation family, 1 affected, unaffected non carrier parents - - - - - - - - ID - 1 1 Johan den Dunnen
00458527 patient PubMed: Sahly 2020 2-generation family, 1 affected, unaffected non carrier parents M - Canada - - - - - DEE see paper; ... 1 1 Johan den Dunnen
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