All individuals with variants in gene SLC52A3

22 entries on 1 page. Showing entries 1 - 22.
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00080886 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - bulbar palsy of childhood, progressive Fazio-Londe disease (OMIM:211500) 1 1 Daniel Trujillano
00204615 Fam7-C9 PubMed: Green 2010 - M - - Europe - - - - BVVLS1 Progressive weakness, muscle wasting and truncal ataxia. Initial presentation: Multiple peripheral neuropathy 2 1 LOVD
00204616 Fam2-C3 PubMed: Green 2010 - F - - Europe - - - - BVVLS1 Anterior horn neuropathy; Intact cognitive development. Initial presentation: Progressive bulbar palsy 1 1 LOVD
00204617 Fam4-C5 PubMed: Green 2010 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Pakistan - - - - - BVVLS1 Progressive muscle weakness. Initial presntation: VII nerve palsy, deafness 1 2 LOVD
00204618 Fam4-C6 PubMed: Green 2010 pat Fam4-C6 F - Pakistan - - - - - BVVLS1 Poor balance, proximal muscle group weakness. Initial presentation: Deafness, Tongue wasting and fasciculations 1 1 LOVD
00204619 Fam3-C4;Fam2008-410 PubMed: Green 2010, PubMed: Johnson 2010 2-generation family, 2 affected sibs (Johnson) M - United States Europe;Asia - - - - BVVLS1 Multiple cranial nerve involvement. Initial presentation: Breathing problems 2 2 LOVD
00204620 Fam5-C7 PubMed: Green 2010 - F - Pakistan - - - - - BVVLS1 Progressive muscle weakness and wasting, external ophthalmoplegia. Initial presentation: Tongue fasciculations, facial palsy 1 1 LOVD
00204621 Fam1-C1 PubMed: Green 2010 2-generation family, 2 affected M - - Arab - - - - BVVLS1 Hypotonia, cerebellar signs, brisk reflexes in lower limbs, persistent ankle clonus, stridor, EMG: bulbar palsy, anterior horn involvement; phrenic nerve denervation, auditory neuropathy. Initial presentation: Sub-acute encephalopathy 2 2 LOVD
00204622 Fam1-C2 PubMed: Green 2010 PatC2 M - - Arabic - - - - BVVLS1 Hypotonia, bulbar palsy, respiratory difficulties. Initial Presentation: Hypotonia, bulbar palsy 2 1 LOVD
00204625 Fam6-C8 PubMed: Green 2010 - F - - Europe - - - - BVVLS1 General weakness, flaccid. Initial presentation: Breathing difficulties, weakness 1 1 LOVD
00207500 Pat11 PubMed: Stalke 2019 family, 2 affected (sister/brother) F yes Germany - >10y - - - BVVLS1 visual impairment (HP:0000505); progressive hearing impairment (HP:0000365); no abnormality of the liver (-HP:0001392); no hepatic Wilson disease symptoms, liver biopsy normal; visits regular school 1 2 Gunnar Schmidt
00207521 brother PubMed: Stalke 2019 brother M yes Germany - - - - - BVVLS1 Visual impairment (HP:0000505) Hearing impairment (HP:0000365) 1 1 Gunnar Schmidt
00292974 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 185 Mohammed Faruq
00304870 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00386515 patient PubMed: Johnson 2012 - - - - - - - - - BVVLS - 2 1 Johan den Dunnen
00386516 patient PubMed: Johnson 2012 - - - - - - - - - BVVLS - 1 1 Johan den Dunnen
00386535 patient PubMed: Ciccolella 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - ? see paper; ...; 2y-progressive dysphonia, exercise intolerance, dyspnoea, cyanosis 1 1 Johan den Dunnen
00386536 FamDZ PubMed: Johnson 2010 4-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - BVVLS - 1 1 Johan den Dunnen
00386537 family PubMed: Bosch 2011 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Netherlands - - - - - ? see paper; ..., infancy progressive muscle weakness, paralysis diaphragm 1 1 Johan den Dunnen
00386538 patient PubMed: Bosch 2011 - - - Netherlands - - - - - ? - 2 1 Johan den Dunnen
00400076 191308 - - F no Germany - - - - - BVVLS1 Abnormal nervous system physiology, Visual impairment, Abnormal cranial nerve morphology, Cranial nerve paralysis, Abnormality of eye movement, Dysphagia, Hearing impairment 2 1 Andreas Laner
00442697 Pat69 PubMed: Westra 2019 - M - - - - - - - NMD Neonatal hypotonia with apnoeas and need of tracheostomy, atrophy of shoulder, upper arm and lower leg muscles, facies myopathica with dysphonia, ptosis and kyphoscoliosis, sensory polyneuropathy; muscle biopsy: type 1 fiber size predominance with presence of internal nuclei and some core-like structures, COX/SDH negative fibers 1 1 Johan den Dunnen
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