Disease #05519

Official abbreviation AOA
Name ataxia-oculomotor apraxia (AOA)
OMIM ID -
Individuals reported having this disease 11
Phenotype entries for this disease 11
Associated with 4 genes APTX, PIK3R5, PNKP, SETX
Associated tissues -
Disease features -
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Individuals

11 entries on 1 page. Showing entries 1 - 11.
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00206904 25728773-Fam1Pat1 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 2 Johan den Dunnen
00206905 25728773-Fam1Pat2 PubMed: Bras 2015 sister F - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206906 25728773-Fam2Pat3 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
00206907 25728773-Fam3Pat4 PubMed: Bras 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206908 25728773-Fam4Pat5 PubMed: Bras 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206909 25728773-Fam5Pat6 PubMed: Bras 2015 3-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
00206910 25728773-Fam6Pat7 PubMed: Bras 2015 4-generation family, 1 affected, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 2 1 Johan den Dunnen
00206911 25728773-Fam7Pat8 PubMed: Bras 2015 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 2 Johan den Dunnen
00206912 25728773-Fam7Pat9 PubMed: Bras 2015 brother M yes Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
00206913 25728773-Fam8Pat10 PubMed: Bras 2015 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F - Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 2 Johan den Dunnen
00206914 25728773-Fam8Pat11 PubMed: Bras 2015 brother M - Portugal - - 0 - - AOA see paper; … PNKP PNKP 1 1 Johan den Dunnen
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