All individuals with variants in gene TRIP12

32 entries on 1 page. Showing entries 1 - 32.
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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     
00144614 - - - F - (Germany) - - - - - ? Global developmental delay (HP:0001263); Hyperkinetic movements (HP:0002487); Urinary incontinence (HP:0000020); Mild short stature (HP:0003502) 1 1 IMGAG
00174385 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Stereotypy (HP:0000733); Autistic behavior (HP:0000729); Short stature (HP:0004322) 1 1 IMGAG
00181213 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Open mouth (HP:0000194); Full cheeks (HP:0000293) 1 1 IMGAG
00208889 27848077-Pat1 PubMed: Bramswig 2017 - M - Germany - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208890 27848077-Pat2 PubMed: Bramswig 2017 - M - Germany - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208891 27848077-Pat3 PubMed: Bramswig 2017 - M - Netherlands - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208892 27479843-Pat? PubMed: Lelieveld 2016 - F - Morocco - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208893 27848077-Pat5 PubMed: Bramswig 2017 - M - Netherlands - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208894 27848077-Pat6 PubMed: Bramswig 2017 - M - Iran - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208895 27848077-Pat7 PubMed: Bramswig 2017 - F - Sweden - - - - - MR;ID see paper; … 2 1 Johan den Dunnen
00208896 27848077-Pat8 PubMed: Bramswig 2017 - F - United States white - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208897 27848077-Pat9 PubMed: O'Roak 2012, PubMed: Bramswig 2017 - M - United States African American - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208898 27848077-Pat10 PubMed: O'Roak 2012, PubMed: Bramswig 2017 - M - United States Hispanic - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208899 27848077-Pat11 PubMed: O'Roak 2012, PubMed: Bramswig 2017 - F - United States white - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208900 28251352-Pat1 PubMed: Zhang 2017 - M - Mexico - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208901 28251352-Pat2 PubMed: Zhang 2017 - M - United States - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208902 28251352-Pat3 PubMed: Zhang 2017 - M - United States - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208903 28251352-Pat4 PubMed: Zhang 2017 - F - United States white - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208904 28251352-Pat5 PubMed: Zhang 2017 - F - United States - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208905 28251352-Pat6 PubMed: Zhang 2017 - M - Saudi Arabia - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208906 28251352-Pat7 PubMed: Zhang 2017 - M - United Arab Emirates - - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208907 28251352-Pat8 PubMed: Zhang 2017 - F - United States white - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208908 28251352-Pat9 PubMed: Zhang 2017 - M - United States white - - - - MR;ID see paper; … 1 1 Johan den Dunnen
00208982 P694-case1 Journal: Brösse 2018, P694 - F - Syria - - - - - MR;ID perinatal history unremarkable, transmitted hypotrophic newborn (weight 2,500 g, length 50 cm, head circumference never measured); inconspicuous infant period; global developmental disorder with expressive language development disorder, suspected mental retardation, autistic behavioral traits, axial hypotension; nonspecific dysmorphic stigmata with prominent forehead, broad nasal root, hypertelorism, epicanthus, deep-seated ears 1 1 Johan den Dunnen
00208983 P694-case2 contact me for details Journal: Brösse 2018, P694 M no Germany - - - - - MR;ID pPerinatal history unremarkable, mature normotrophic newborn (weight 4,000 g, length 53 cm, head circumference 36 cm); inconspicuous infant period; primary developmental disorder with absence of expressive language, moderate mental disability, discrete muscular hypotension, early childhood autism; nonspecific dysmorphic signs with short nose and anteverted nares, small chin, and infraorbital swelling 1 1 Johan den Dunnen
00208984 P694-case3 Journal: Brösse 2018, P694 - F no Germany - - - - - MR;ID perinatal history: unremarkable, mature normotrophic newborn (weight 3,800 g, length 54 cm, head circumference 35 cm); inconspicuous infant period; primary developmental disorder with emphasis on language deficits; hyperkinetic behavioral disorder, mild to moderate mental retardation and incontinence; nonspecific dysmorphic signs with broad nose and low standing columella, flat philtrum, narrow upper lip, prominent upper jaw region, and hypopigmentation on the abdomen; somatic growth in the range P3–10. 1 1 Johan den Dunnen
00269535 - PubMed: Minardi 2020 - F - Italy - - - - - EE Epileptic Encephalopathy (HP:0200134) 1 1 Francesca Bisulli
00288210 Pat20 PubMed: Lee 2019 - - - United States - - - - - ? decreased body weight, short stature, failure to thrive, postnatal growth retardation, intrauterine growth retardation, growth delay, widely spaced teeth, thick vermilion border, full cheeks, U-shaped upper lip vermilion, narrow forehead, depressed nasal bridge, deeply set eye, short philtrum, tachypnea, apnea, broad hallux, clinodactyly, broad thumb, meconium ileus, shawl scrotum, global developmental delay, autistic behavior 1 1 Johan den Dunnen
00301257 - PubMed: Minardi 2020 - F - Italy - - - - - EIEE - 1 1 Francesca Bisulli
00374563 S-3157 PubMed: Ganapathy 2019 - - - India - - - - - ? attention deficit, intellectual disability, global development delay, broad facies, myopia, macrocephaly and macrostomia 1 1 Johan den Dunnen
00390483 187344 - - M no Germany - - - - - CLABARS;MRD49 Hydrocele testis, Behavioral abnormality, Delayed speech and language development, Global developmental delay 1 1 Andreas Laner
00449875 - - - F - - - - - - - SCZD Schizophrenia, Autism, 1 1 Camille Verebi
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