All individuals with variants in gene GALC

17 entries on 1 page. Showing entries 1 - 17.
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00000006 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 LOVD-team, but with Curator vacancy
00000062 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000067 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000089 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000091 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00092240 - PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - 0 - - CORTRD-1, Krabbe congenital hypotonia, respiratory/feeding insufficiency, IDD secondary to myopathy, premature adrenarche, skin pigmentation abnormalities; transient glycogen storage on muscle biopsy 1 1 Johan den Dunnen
00150149 26539891-FamBAB5388 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? intellectual diability, cortical atrophy, microcephaly, sensorineural polyneuropathy 2 1 Johan den Dunnen
00180174 29286531-Pat26 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? Epilepsy (HP:0001250), status epilepticus (HP:0002133), generalized myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), developmental regression (HP:0002376), small for gestational age (HP:0001518), hemiparesis (HP:0004374), nystagmus (HP:0000639), strabismus (HP:0000486), progressive visual loss (HP:0000529), amblyopia (HP:0000646). Electroneuromyography: axonal abnormality (HP:0003482). Head MRI: leukodystrophy (HP:0002415), death in childhood (HP:0003819) 2 1 Johan den Dunnen
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