All individuals with variants in gene UBA5

24 entries on 1 page. Showing entries 1 - 24.
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00152004 13864 PubMed: Mignon-Ravix 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France - 00y00m16d - - - encephalopathy, neonatal, severe see paper; ... 1 1 Laurent Villard
00179423 27829678-FamA PubMed: Colin 2016 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M no Finland - - - - - EE see paper; … 2 2 Johan den Dunnen
00179424 27829679-FamB PubMed: Colin 2016 2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives F;M no Finland - - - - - EE see paper; … 2 3 Johan den Dunnen
00179425 27829680-FamC PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United Kingdom (Great Britain) white - - - - EE see paper; … 2 1 Johan den Dunnen
00179426 27829681-FamD PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Northern Ireland;Romania - - - - - EE see paper; … 2 1 Johan den Dunnen
00179427 27829682-FamE PubMed: Colin 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Finland - - - - - EE see paper; … 2 1 Johan den Dunnen
00179428 27545674-FamA PubMed: Muona 2016 2-generation family, affected brothers, unaffected heterozygous carrier parents M no France - - - - - EE see paper; … 2 2 Johan den Dunnen
00179429 27545675-FamB PubMed: Muona 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - - - - - EE see paper; … 2 1 Johan den Dunnen
00179430 27545676-FamC PubMed: Muona 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Germany - - - - - EE see paper; … 2 1 Johan den Dunnen
00179431 27545677-FamD PubMed: Muona 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Kuwait - - - - - EE see paper; … 2 1 Johan den Dunnen
00179432 28965491-Fam PubMed: Arnadottir 2017 2-generation family, affected sisters, unaffected heterozygous carrier parents/relatives F no Iceland - - - - - EE see paper; … 2 2 Johan den Dunnen
00179433 28965491-IndA PubMed: Arnadottir 2017 - F - Iceland - - - - - ? coronary artery disease, essential hypertension, osteoarthritis 1 1 Johan den Dunnen
00179434 28965491-IndB PubMed: Arnadottir 2017 - M - Iceland - - - - - ? myocardial infarction 1 1 Johan den Dunnen
00179435 28965491-IndC PubMed: Arnadottir 2017 - F - Iceland - - - - - ? coronary artery disease, ulcerative colitis 1 1 Johan den Dunnen
00179436 27829678-IndA PubMed: Colin 2016 - - - Finland - - - - - Healthy/Control free from any neurological disorder 1 1 Johan den Dunnen
00179437 26872069-Fam PubMed: Duan 2016 2-generation family, affected sister brother, unaffected heterozygous carrier parents F;M no China - - - - - SCAR see paper; ..., gait instability, speech difficulties, gait and limb ataxia, dysarthria, horizontal nystagmus, cataract; EMG normal 2 1 Johan den Dunnen
00180186 29286531-Pat38 PubMed: Tumienė 2018 2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents F;M no (Slovenia) - - - - - ? Epilepsy (HP:0001250), epileptic spasms (West syndrome) (HP:0011097), myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), facial dysmorphism: coarse facial features (HP:0000280), inguinal hernia (HP:0000023), umbilical hernia (HP:0001537), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212), high palate (HP:0002705), hoarse voice (HP:0001609), opisthotonos (HP:0002179), increased muscle tone (HP:0001276), resting tremor (HP:0002322), neurodegeneration (HP:0002180) 2 1 Johan den Dunnen
00320357 FamPatIV9 PubMed: Cabrera-Serrano 2020 5-generation family, 5 affected (3F, 2M) M yes Australia Lebenon 21d - - - ? died 3w; hypotonia; feeding difficulties; tongue fasciculations 1 5 Johan den Dunnen
00320358 FamPaV2 PubMed: Cabrera-Serrano 2020 - M yes Australia Lebenon 56d - - - ? birth 40w; died 8w; no polyhydramnios; reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; head lag; facial weakness; feeding difficulties; MRI brain/spine 3w-normal 1 1 Johan den Dunnen
00320359 FamPaV4 PubMed: Cabrera-Serrano 2020 - F yes Australia Lebenon 63d - - - ? ; died 9w; no polyhydramnios; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; distal weakness/reduced grasp; feeding difficulties; tongue fasciculations 1 1 Johan den Dunnen
00320360 FamPaV7 PubMed: Cabrera-Serrano 2020 - F yes Australia Lebenon 4m - - - ? birth 33w; died 16w; polyhydramnios; reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; head lag; facial weakness; feeding difficulties; tongue fasciculations; MRI brain/spine 2m-normal 1 1 Johan den Dunnen
00320361 FamPaV8 PubMed: Cabrera-Serrano 2020 - F yes Australia Lebenon 70d - - - ? birth 37w; died 10w; no polyhydramnios; no reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; distal weakness/reduced grasp; head lag; facial weakness; feeding difficulties 1 1 Johan den Dunnen
00392037 159P - - F no Spain - - - - - EIEE44, SCAR24 - 2 1 Alejandro Brea-Fernández
00438346 Pat64 PubMed: Chuan 2022 - F - China - - - - - epilepsy HP:0001250 seizures; HP:0012469 infantile spasms; HP:0001250 seizures; HP:0012430 cerebral white matter hypoplasia; HP:0002353 eeg abnormality 2 1 Johan den Dunnen
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