All individuals with variants in gene TET3

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00275608 Fam1PatII1 Journal: Beck 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - white - - - - ? birth at term, birth weight 3,370g (-0.07), length 48.3cm (-0.92); weight 41.6kg (+2.61), height 135.3cm (+2.25), OFC 57.9cm (>+2.00); mild intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features (obsessive-compulsive tendencies); difficult/delayed social interactions; anxiety, attention deficit hyperactivity disorder; seizures; EEG abnormal focus on right; tic disorder; hypotonia; no hypertonia; MRI brain increased extra-axial spaces, mild ventriculomegaly; no ophthalmological findings; cardiomegaly, valve abnormality, abnormal EKG; advanced bone age, pes planus; infantile feeding difficulties; no brachycephaly; tall or broad forehead; long face; no protruding ears; short nose, long philtrum; hypotonic face/open mouth; high arched palate 2 1 Johan den Dunnen
00275609 Fam2PatII1 Journal: Beck 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - white - - - - ? birth 41w, birth weight 3,230g (-0.57), length 53.98cm (+1.26); weight 13.7kg (-0.37), height 100.3cm (+1.13), OFC 47cm (-1.04); global developmental delay (severe); gross motor delay; fine motor delay; speech delay; high pain tolerance; seizures; EEG abnormal; extensor posturing; hypotonia; no hypertonia; normal; nystagmus; no cardiovascular anomalies; scoliosis; feeding difficulties, G-tube, constipation; brachycephaly; tall or broad forehead; no long face; protruding ears; short nose, long philtrum; hypotonic face/open mouth; no high arched palate 2 1 Johan den Dunnen
00275610 Fam3PatII1 PubMed: Santos-Cortez 2018, Journal: Beck 2020 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents M yes - Asian - - - - ? birth at term, birth weight 1,360g (-4.7); weight 38kg (-5.16), height 159cm (-2.48), OFC 53cm (-2.00); moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; no seizures; no other abnormal movements; hypotonia; no hypertonia; no ophthalmological findings; tall or broad forehead; long face; protruding ears; no short nose, no long philtrum; hypotonic face/open mouth 1 3 Johan den Dunnen
00275611 Fam3PatII2 PubMed: Santos-Cortez 2018, Journal: Beck 2020 - F yes - Asian - - - - ? birth at term; moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; no seizures; no other abnormal movements; hypotonia; no hypertonia; no ophthalmological findings 1 1 Johan den Dunnen
00275612 Fam3PatII3 PubMed: Santos-Cortez 2018, Journal: Beck 2020 - F yes - Asian - - - - ? birth at term, birth weight 2,270g (-2.44); weight 47kg (-1.52), height 165cm (+0.26), OFC 51cm (<-2.00); moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; no seizures; no other abnormal movements; hypotonia; no hypertonia; no ophthalmological findings; tall or broad forehead; long face; N 1 1 Johan den Dunnen
00275613 Fam4PatII1 Journal: Beck 2020 2-generation family, 1 affected, unaffected parents M - - white - - - - ? birth 40w, birth weight 3,865g (+0.66), length 48.26cm (-1.23), OFC 35.56cm (+0.52); weight 9.35kg (-0.06), height 75.5cm (+0.41), OFC 48.3 cmcm (+2.00); global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features; difficult/delayed social interactions; no seizures; EEG normal; myoclonic movements and periodic limb movement in sleep; hypotonia; MRI brain normal; no musculoskeletal findings; feeding difficulties, gastresophageal reflux, delayed gastric emptying; brachycephaly; high arched palate 1 1 Johan den Dunnen
00275614 Fam5PatII1 Journal: Beck 2020 2-generation family, 1 affected, unaffected parents M - Morocco Morocco;West Indies - - - - ? birth at term, birth weight 4,300g (+1.49), length 53cm (+0.68); weight 27.7kg (+0.79), height 120cm (-0.88), OFC 55cm (>+2.00); global developmental delay; gross motor delay; fine motor delay; febrile partial seizures, myoclonic seizures; EEG bioccipital bi-phasic spikes, then centro-temporal spikes with continuous spikes + waves during sleep; dysmetria; hypotonia; no hypertonia; MRI brain normal (2y6m, 5y6m); no ophthalmological findings; no cardiovascular anomalies; no musculoskeletal findings; no brachycephaly; tall or broad forehead; long face; protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate 1 1 Johan den Dunnen
00275615 Fam6PatII1 Journal: Beck 2020 2-generation family, 1 affected, unaffected parents M - Estonia;Finland - - - - - ? birth 35w, birth weight 1,475g (-2.37), length 42cm (-1.56), OFC 31cm (-0.66); weight 8.9kg (-1.85;, height 82cm (-0.10), OFC 50cm (+1.98); global developmental delay (severe); gross motor delay; fine motor delay; speech delay; autistic features (poor eye contact); difficult/delayed social interactions; no other behavioral concerns; seizures (infantile spasms); EEG epileptic activity; dystonias; hypotonia (central); hypertonia (peripheral); MRI brain periventricular leukomalacia, increased extra-axial spaces; nystagmus, strabismus, ptosis, lacrimal duct stenosis; ventricular septal defect, aortic valve insufficiency; hip dysplasia; feeding difficulties; no brachycephaly; tall or broad forehead; long face; protruding ears; short nose, long philtrum; hypotonic face/open mouth; high arched palate 1 1 Johan den Dunnen
00275616 Fam7PatII1 Journal: Beck 2020 2-generation family, affected father/son, unaffected parents M - United Kingdom (Great Britain) white - - - - ? birth at term, birth weight 3,170g (-0.73); weight 38.55kg (+0.36), height 134.3cm (-1.34), OFC 52.5cm (-0.67); moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features (routine-oriented, obsessions) ; difficult/delayed social interactions; attention deficit hyperactivity disorder; no seizures; EEG normal; no other abnormal movements; no hypotonia; no hypertonia; no MRI brain ; no ophthalmological findings; no cardiovascular anomalies; joint hypermobility; no GI manifestations; brachycephaly; no tall or broad forehead; no long face; no protruding ears; short nose, long philtrum; no hypotonic face, no open mouth; no high arched palate 1 2 Johan den Dunnen
00275617 Fam7PatI1 Journal: Beck 2020 father M - United Kingdom (Great Britain) white - - - - ? weight 126kg (>+2.0), height 185cm (+1.15), OFC 56.5cm (+0.67); mild/moderate intellectual disability ; global developmental delay; no autistic features; difficult/delayed social interactions; anxiety, depression; no seizures; EEG normal; no other abnormal movements; no hypotonia; no hypertonia; no MRI brain ; no ophthalmological findings; no cardiovascular anomalies; no GI manifestations; brachycephaly; no tall or broad forehead; no long face; no protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate 1 1 Johan den Dunnen
00275618 Fam8PatII1 Journal: Beck 2020 2-generation family, 1 affected, unaffected parents M - - Jewish-Ashkenazi - - - - ? birth 40w3d, birth weight 3,685g (+0.21), length 57.2cm (+2.38), OFC 34.9cm (+0.04); weight 24.3kg (-1.76), height 131cm (-1.12), OFC 52cm (-0.7); no intellectual disability; global developmental delay; gross motor delay; no fine motor delay; speech delay; autistic features; difficult/delayed social interactions; anxiety, attention deficit hyperactivity disorder; no seizures; no other abnormal movements; no hypotonia; no hypertonia; no ophthalmological findings; no cardiovascular anomalies; no musculoskeletal findings; no GI manifestations; no brachycephaly; no tall or broad forehead; no long face; no protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate 1 1 Johan den Dunnen
00327547 family PubMed: Beck 2014 2-generation family, 5 affected (2F, 3M) F;M yes Iraq - - - - - retinal disease see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease 1 5 Johan den Dunnen
00448708 287239 - - M no Germany - - - - - BEFAHRS Neurodevelopmental delay 1 1 Andreas Laner
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.