All individuals with variants in gene DNM1L

18 entries on 1 page. Showing entries 1 - 18.
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00047314 26604000-Pat1 PubMed: Vanstone 2016, Journal: Vanstone 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Canada white - 0 - - EMPF see paper; developmental delay, refractory epilepsy, prolonged survival, no evidence of mitochondrial or peroxisomal dysfunction (blood and urine); EEG nonspecific, background slowing with frequent epileptiform activity rontal and central head regions; EM skeletal muscle showed subtle, nonspecific abnormalities of cristal organization; confocal microscopy of patient fibroblasts showed striking hyperfusion mitochondrial network, ... 1 1 Matthew Lines
00059110 27328748-Fam PubMed: Nasca 2016, Journal: Nasca 2016 2-generation family, 2 affected brothers (II2/II3), unaffected heterozygous carrier parents M no Italy - - 0 - - ? see paper; infantile slowly progressive neurological impairment, ... 2 2 Daniele Ghezzi
00074478 - - - F - Spain - - 0 - - EMPF - 1 1 NeuroMeGen
00081042 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - 0 - - EMPF Encephalopahty, lethal, due to defective m peroxisomal fission (OMIM:614388) 1 1 Daniel Trujillano
00100785 17460227-Pat1 PubMed: Waterham 2007, Journal: Waterham 2007 2-generation family, 1 affected, unaffected non-carrier parents F no United Kingdom (Great Britain) white, British 00y00m37d 0 - - EMPF see paper; microcephaly (HP:0000252), abnormal brain development (HP:0012443), optic atrophy (HP:0000648), optic hypoplasia (HP:0000609), persistent lactic acidemia (HP:0003128), mildly elevated plasma concentration of very-long-chain fatty acids (HP:0003455), ... 1 1 Johan den Dunnen
00100786 26992161-Pat1 PubMed: Sheffer 2016, Journal: Sheffer 2016 2-generation family, 1 affected, unaffected non-carrier parents/sibs M no Israel Arab, Moslem >02y 0 - - EMPF see paper; chronic neurological disorder, postnatal microcephaly, developmental delay, pain insensitivity; muscle biopsy disclosed decreased respirato ry chain complex IV activity, ... 1 1 Johan den Dunnen
00100787 26825290-FamPatA PubMed: Yoon 2016, Journal: Yoon 2016 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F no Canada Filipino 00y00m21d 0 - - EMPF see paper; born from twin pregnancy 2nd twin died at 21w; 36w delivered by cesarean for non-reassuring fetal heart rate, ... 2 2 Johan den Dunnen
00100788 26825290-FamPatB PubMed: Yoon 2016, Journal: Yoon 2016 - M no Canada Filipino 00y00m08d 0 - - EMPF see paper; 37w cesarean due to fetal distress; birth profoundly hypotonic with absent respiratory effort required intubation and cardiopulmonary resuscitation for 12 minutes, ... 2 1 Johan den Dunnen
00100789 27145208-Pat1 PubMed: Fahrner 2016, Journal: Fahrner 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - >04y 0 - - EE see paper; partial status epilepticus characterized by right hemibody clonus and impaired consciousness 2w following Diptheria, Tetanus, and Pertussis (DTaP) booster, ... 1 1 Johan den Dunnen
00100790 27145208-Pat2 PubMed: Fahrner 2016, Journal: Fahrner 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - >05y 0 - - EE see paper; 5y-healthy typically developing, except mild expressive speech delay (dysarthria), presented suddenly with focal status epilepticus/encephalopathy after minor head trauma (collision with other child) without loss of consciousness and normal head CT, ... 1 1 Johan den Dunnen
00100791 26931468-Pat PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - 05y 0 - - EE see paper; born at term; normal development until 5m when developed seizures, developmental regression, MRI brain revealed progressive volume loss, demyelination; 14m-global developmental delay, hypotonia, status epilepticus; 5y-died from severe status epilepticus with respiratory failure; ... 1 1 Johan den Dunnen
00100792 26931468-Pat2 PubMed: Chao 2016, Journal: Chao 2016 2-generation family, 1 affected, unaffected non-carrier parents F no United States - 00y10m 0 - - EE see paper; born 37w3d, pregnancy complicated by intrauterine growth restriction, hydrocephalus; 4d persistent lactic acidosis; died 10 m from pneumonia; .... 1 1 Johan den Dunnen
00218065 pt-ab - - - - Italy - - 0 - - EMPF - 1 1 Daniela Verrigni
00218066 pt-szy - - - - Italy - - 0 - - EMPF - 1 1 Daniela Verrigni
00218067 Pt-mos - - - - Italy - - 0 - - EMPF - 1 1 Daniela Verrigni
00324497 - - - F - (France) - - 0 - - neuropathy, optic, OPA Optic atrophy (HP:0000648); Reduced OCT-measured macular thickness (HP:0030607); Childhood onset (HP:0011463); Severe (HP:0012828) 1 1 Marc Ferre
00374715 S-5743 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
00374716 S-5507 PubMed: Ganapathy 2019 - - - India - - 0 - - ? - 1 1 Johan den Dunnen
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