All individuals with variants in gene GTF2I

8 entries on 1 page. Showing entries 1 - 8.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00471539 Pat1 PubMed: Jury 2025 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); no speech delay (-HP:0000750); learning or intellectual disability (HP:0001249); normal social behaviour (-HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999), periorbital fullness, full lips,low set ears; congenital heart defect (HP:0001627); no seizures (-HP:0001250) 1 1 Johan den Dunnen
00471540 Pat2 PubMed: Jury 2025 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., severe global developmental dealy (HP:0001263); gross motor delay (HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), bulbous nose,everted lower lip,large ears, sagging cheeks; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250) 1 1 Johan den Dunnen
00471541 Pat3 PubMed: Jury 2025 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., moderate global developmental dealy (HP:0001263); gross motor delay (HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), mild malar hypoplasia, overfolded pinnae with flattened helix, mild epicanthus, small chin; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250) 1 1 Johan den Dunnen
00471542 Pat4 PubMed: Jury 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); normal social behaviour (-HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999), prominent metopic ridge, arched eyebrows, synophrys, mildly downslanting palpebral fissures, small mouth, thin lips, high arched palate, protruding ears; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250) 1 1 Johan den Dunnen
00471543 Pat5 PubMed: Jury 2025 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), high anterior hairline, diffusely sparse and curly hair, periorbital fullness, mild epicanthal folds, broad nasal bridge with prominent nasal tip, full lower lip; no congenital heart defect (-HP:0001627); seizures (HP:0001250) 1 1 Johan den Dunnen
00471544 Pat6 PubMed: Jury 2025 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999); 4y-stellate iris, thin upperlip, high palate; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250) 1 1 Johan den Dunnen
00471545 Pat7 PubMed: Jury 2025 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), evertedlower lip, full lower lip; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250) 1 1 Johan den Dunnen
00471546 Pat8 PubMed: Jury 2025 patient M - - - - - - - NDD see paper; ..., moderate global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); abnormal social behaviour (HP:0012433); autistic behaviour (HP:0000729)/ADHD; dysmorphic facial features (HP:0001999), hypertelorism, bilateral epicanthus, large mouth, thick lips, stellar iris; no congenital heart defect (-HP:0001627); 1 1 Johan den Dunnen
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