All individuals with variants in gene TELO2

6 entries on 1 page. Showing entries 1 - 6.
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00065298 27132593-Fam1PatII2 PubMed: You 2016, Journal: You 2016 2-generation family, 3 affecteds (brother/her), sister twins and brother, unaffected heterozygous carrier parents M no United States - >17y - - - ID intellectual disability (HP:0001249), microcephaly (HP:0000252), hearing loss (HP:0000365), cortical visual impairment (HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), congenital heart disease (HP:0030680), no kyphoscoliosis/scoliosis (-HP:0002751), brachydactyly (HP:0001156) & clinodactyly (HP:0030084), 4/5 toe syndactyl (HP:0004692), abnormal balance (HP:0002141), no abnormal sleep pattern (-HP:?), laughter outbursts (HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 2 3 Jamie Zeegers
00065299 27132593-Fam1PatII3 PubMed: You 2016, Journal: You 2016 twin sister F - United States - >17y - - - ID intellectual disability (HP:0001249), microcephaly (HP:0000252), hearing loss (HP:0000365), cortical visual impairment (HP:0100704), oral frenuli/ankyloglossia (HP:0010296), cleft palate (HP:0000175), congenital heart disease (HP:0030680), kyphoscoliosis/scoliosis (HP:0002751), brachydactyly (HP:0001156) & clinodactyly (HP:0030084), 4/5 toe syndactyl (HP:0004692), abnormal balance (HP:0002141), no abnormal sleep pattern (-HP:?), no laughter outbursts (-HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), rotatory nystagmus (HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 2 1 Jamie Zeegers
00065300 27132593-Fam1PatII4 PubMed: You 2016, Journal: You 2016 - M no United States - >10y - - - ID intellectual disability (HP:0001249), microcephaly (HP:0000252), hearing loss (HP:0000365), cortical visual impairment (HP:0100704), oral frenuli/ankyloglossia (HP:0010296), no cleft palate (-HP:0000175), congenital heart disease (HP:0030680), no kyphoscoliosis/scoliosis (-HP:0002751), brachydactyly (HP:0001156) & clinodactyly (HP:0030084), 4/5 toe syndactyl (HP:0004692), abnormal balance (HP:0002141), no abnormal sleep pattern (-HP:?), no laughter outbursts (-HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 2 1 Jamie Zeegers
00065301 27132593-Fam2PatII2 PubMed: You 2016, Journal: You 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - >06y - - - ID intellectual disability (HP:0001249), microcephaly (HP:0000252), no hearing loss (-HP:0000365), no cortical visual impairment (-HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), no congenital heart disease (-HP:0030680), no kyphoscoliosis/scoliosis (-HP:0002751), no brachydactyly (-HP:0001156) & no clinodactyly (-HP:0030084), no 4/5 toe syndactyl (-HP:0004692), abnormal balance (HP:0002141), abnormal sleep pattern (HP:?), no laughter outbursts (-HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 2 1 Jamie Zeegers
00065302 27132593-Fam3PatII1 PubMed: You 2016, Journal: You 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States - >17y - - - ID intellectual disability (HP:0001249), microcephaly (HP:0000252), no hearing loss (-HP:0000365), no cortical visual impairment (-HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), no congenital heart disease (-HP:0030680), kyphoscoliosis/scoliosis (HP:0002751), no brachydactyly (-HP:0001156) & no clinodactyly (-HP:0030084), no 4/5 toe syndactyl (-HP:0004692), abnormal balance (HP:0002141), abnormal sleep pattern (HP:?), laughter outbursts (HP:0000749), movement disorder (HP:0100022), seizures (HP:0001250), rotatory nystagmus (HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 2 1 Jamie Zeegers
00065303 27132593-Fam4patII1 PubMed: You 2016, Journal: You 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - >09y - - - ID intellectual disability (HP:0001249), microcephaly (HP:0000252), no hearing loss (-HP:0000365), cortical visual impairment (HP:0100704), no oral frenuli/ankyloglossia (-HP:0010296), no cleft palate (-HP:0000175), no congenital heart disease (-HP:0030680), kyphoscoliosis/scoliosis (HP:0002751), clinodactyly (HP:0030084), no 4/5 toe syndactyl (-HP:0004692), abnormal balance (HP:0002141), abnormal sleep pattern (HP:?), laughter outbursts (HP:0000749), movement disorder (HP:0100022), no seizures (-HP:0001250), no rotatory nystagmus (-HP:0001583); severe intellectual disability (HP:0010864); global developmental delay (HP:0001263) 3 1 Jamie Zeegers
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