All individuals with variants in gene TDP2

7 entries on 1 page. Showing entries 1 - 7.
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00275997 EE PubMed: Errichiello 2020 3-generation family, two affected siblings (F, M); unaffected heterozygous carrier parents/relatives F;M yes Italy white >39y - yes - ataxia global developmental delay, ataxia, intellectual disability, speech delay, focal drug-resistant epileptic seizures, progressive gait deterioration 1 2 Edoardo Errichiello
00331574 13DG2203 PubMed: Maddirevula 2018 isolated case M yes - - - - - - skeletal dysplasia Arab (Egyp Tetraphocomelia, Preauricular skin tag, Low-set ears, Single transverse palmar crease, Hig No 1 1 LOVD
00410747 patient PubMed: Zagnoli-Vieira 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - SCAR see paper; ..., developmental delay, microcephaly, failure to thrive, difficulty keeping balance, ataxic gait, seizures/epilepsy, hypotonia, neutropenia, cardiac arrhythmia, fatigability 1 1 Johan den Dunnen
00410748 FamPatIV9 PubMed: Gomez-Herreros 2014 5-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives M yes Ireland - - - - - SCAR see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (1-2/day), ataxia, wheelchair-bound, hypotonia, dysmorphic, brachycephaly 2 3 Johan den Dunnen
00410749 FamPatIV14 PubMed: Gomez-Herreros 2014 brother M yes Ireland - - - - - SCAR see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (3-4/day), ataxia, wheelchair-bound, dysmorphic 2 1 Johan den Dunnen
00410750 FamPatIV16 PubMed: Gomez-Herreros 2014 brother M yes Ireland - - - - - SCAR see paper; ..., symptomatic generalized epilepsy, moderate-severe intellectual disability, tonic seizures (2/day), ataxia, not wheelchair-bound, dysmorphic 2 1 Johan den Dunnen
00410751 family PubMed: Gomez-Herreros 2014 - - - Egypt - - - - - SCAR see paper; ..., intellectual disability, ataxia 1 1 Johan den Dunnen
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