All individuals with variants in gene TRIO

52 entries on 1 page. Showing entries 1 - 52.
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00000024 - PubMed: Bell 2011 - - - - - - - - - BMD/DMD - 1 1 Global Variome, with Curator vacancy
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00024238 - PubMed: Gilissen 2014 - - - - - - - - - ID - 1 1 Johan den Dunnen
00050535 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? progressive microcephaly 1 1 Johan den Dunnen
00050565 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? cognitive impairment, restlessness, inappropriate behavior 1 1 Johan den Dunnen
00050631 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? hypomimic face, upslanted palpebral fissure, short palm, small feet, third toe clinodactyly, fifth toe clinodactyly, joint hypermobility, iron deficiency anemia, intellectual disability, delayed speech and language development, global developmental delay, delayed speech and language development, delayed gross motor development, amblyopia, strabismus 1 1 Johan den Dunnen
00143200 - - - M - (Germany) - - - - - ? Expressive language delay (HP:0002474); Microcephaly (HP:0000252); Behavioral abnormality (HP:0000708) 1 1 IMGAG
00144523 - - - M - (Germany) - - - - - ? HP:0002360 (Sleep disturbance) 1 1 IMGAG
00183048 23033978-Trio15 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00207895 28771251-Pat111 PubMed: Lionel 2018 - F - Canada - - - - - ? Microcephaly; global developmental delay 1 1 Johan den Dunnen
00229656 - - - M - - - - - - - ? Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Poor fine motor coordination (HP:0007010); Poor gross motor coordination (HP:0007015) 1 1 IMGAG
00238999 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Behavioral abnormality (HP:0000708) 1 1 IMGAG
00276048 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Short stature (HP:0004322); Behavioral abnormality (HP:0000708) 1 1 IMGAG
00289303 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Tall stature (HP:0000098); Attention deficit hyperactivity disorder (HP:0007018); Muscular hypotonia (HP:0001252); Microcephaly (HP:0000252) 1 1 IMGAG
00289381 Pat1 PubMed: Barbosa 2020 - M - - - - - - - NDD sit-12m; walk-30m; speech first words-66m; moderate learning difficulties; language delay dysarthria, short sentences; language delay; OFC +0.7 SD 1 1 Johan den Dunnen
00289382 Pat2 PubMed: Barbosa 2020 - M - - - - - - - NDD walk-84m; severe learning difficulties; language delay 7y-50 words; language delay; OFC +2.9 SD 1 1 Johan den Dunnen
00289383 Pat3 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile <36w; sit not achieved; crawling; no speech; severe learning difficulties; language delay babble only; language delay; OFC +2.2 SD 1 1 Johan den Dunnen
00289384 Pat4 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile 52w; sit-36m; walk not achieved; no speech; severe learning difficulties; language delay babble only; language delay; OFC +2.7 SD 1 1 Johan den Dunnen
00289385 Pat5 PubMed: Barbosa 2020 - M - - - - - - - NDD ; sit-36m; speech first words-36m; walk not achieved; severe learning difficulties; language delay <10 words; language delay; OFC +2.8 SD 1 1 Johan den Dunnen
00289386 Pat6 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile normal; sit-7m; walk-24m; no speech; severe learning difficulties; language delay severe, sounds only; language delay, comprehension better; OFC +3 SD 1 1 Johan den Dunnen
00289387 Pat7 PubMed: Barbosa 2020 - F - - - - - - - NDD ; sit-10.5m; walk-24m; speech first words-48–60m; moderate learning difficulties; language delay impaired articulation; language delay; OFC +2.4 SD 1 1 Johan den Dunnen
00289388 Pat8 PubMed: Barbosa 2020 - F - - - - - - - NDD first smile 24w; sit-9m; walk-36m; speech first words-52m; severe learning difficulties; language delay short sentences only; language delay; OFC +4.7 SD 1 1 Johan den Dunnen
00289389 Pat9 PubMed: Pengelly 2016, PubMed: Barbosa 2020 - F - - - - - - - NDD ; sit-11m; walk-48–60m; severe learning difficulties; language delay non-verbal, uses Makaton; language delay; OFC +1.8 SD 1 1 Johan den Dunnen
00289390 Pat10 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile 12w; sit-9m; speech first words-24m; walk not achieved; moderate learning difficulties; language delay only a few two-syllable words; language delay; OFC -3.8 SD 1 1 Johan den Dunnen
00289391 Pat11 PubMed: Pengelly 2016, PubMed: Barbosa 2020 - F - - - - - - - NDD first smile 8w; sit-10m; walk-22m; learning difficulties missing level in charts; language delay very talkative; language delay, unable to read or write; OFC -5.9 SD 1 1 Johan den Dunnen
00289392 Pat12 PubMed: Barbosa 2020 - F - - - - - - - NDD first smile 6w; sit-8m; walk-12m; moderate learning difficulties; language delay talkative; language delay; microcephaly 1 1 Johan den Dunnen
00289393 Pat13 PubMed: Pengelly 2016, PubMed: Barbosa 2020 - F - - - - - - - NDD first smile 36w; sit-11m; walk-30–36m; speech first words-48–60m; global learning difficulties; language delay; language delay; OFC -3.8 SD 1 1 Johan den Dunnen
00289394 Pat14 PubMed: Barbosa 2020 - M - - - - - - - NDD ; sit-9m; walk-17m; speech first words-60m; mild learning difficulties; language delay 9y-first sentences; no language delay; OFC -4 SD 1 1 Johan den Dunnen
00289395 Pat15 PubMed: Barbosa 2020 - F - - - - - - - NDD first smile 8w; sit-11m; walk-21m; mild learning difficulties; language delay; language delay; OFC +1.5 SD 1 1 Johan den Dunnen
00289396 Pat16 PubMed: Barbosa 2020 - F - - - - - - - NDD first smile 28w; sit-13m; walk-24m; speech first words-24–36m; moderate learning difficulties; language delay literal speech; language delay; OFC 0.3 SD 1 1 Johan den Dunnen
00289397 Pat17a PubMed: Pengelly 2016, PubMed: Barbosa 2020 2-generation family, 3 affected (F, 2M), proband F - - - - - - - NDD first smile; sit-9m; walk-17m; speech first words-17m; mild learning difficulties; language delay; language delay; OFC -3.3 SD 1 3 Johan den Dunnen
00289398 Pat17b PubMed: Pengelly 2016, PubMed: Barbosa 2020 father M - - - - - - - NDD first smile; mild learning difficulties; OFC -2.1 SD 1 1 Johan den Dunnen
00289399 Pat17c PubMed: Pengelly 2016, PubMed: Barbosa 2020 uncle M - - - - - - - NDD first smile; mild learning difficulties; OFC -3.9 SD 1 1 Johan den Dunnen
00289400 Pat18 PubMed: Barbosa 2020 - F - - - - - - - NDD first smile; walk-14m; speech first words-24m; yes learning difficulties; language delay; language delay; OFC -3.5 SD 1 1 Johan den Dunnen
00289401 Pat19 PubMed: Barbosa 2020 - F - - - - - - - NDD first smile; sit-8m; walk-12m; speech first words-10m; mild learning difficulties; language delay; language delay; OFC -4.4 SD 1 1 Johan den Dunnen
00289402 Pat20 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile 6w; sit-6m; walk-12m; speech first words-Delayed; severe learning difficulties; language delay short sentences; nolanguage delay; OFC -1.4 SD 1 1 Johan den Dunnen
00289403 Pat21 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile >8w; walk->24m; speech first words->18m; moderate learning difficulties; language delay; language delay; OFC +1.4 SD 1 1 Johan den Dunnen
00289404 Pat22 PubMed: Barbosa 2020 - M - - - - - - - NDD first smile 21m; sit not achieved, walk not achieved; no speech; severe learning difficulties; language delay no language development; language delay; OFC -4.6 SD 1 1 Johan den Dunnen
00295762 - - - M - - - - - - - ? Microcephaly (HP:0000252); Intellectual disability (HP:0001249); EEG abnormality (HP:0002353) 1 1 IMGAG
00301663 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Congenital microcephaly (HP:0011451); Muscular hypotonia (HP:0001252); Hypospadias (HP:0000047); Elevated serum creatine kinase (HP:0003236); Short attention span (HP:0000736); Impaired pain sensation (HP:0007328) 1 1 IMGAG
00320138 - - - M - - - - - - - ? Microcephaly (HP:0000252); Strabismus (HP:0000486); Delayed speech and language development (HP:0000750); Global developmental delay (HP:0001263); Generalized hypotonia (HP:0001290) 1 1 IMGAG
00398533 F538 PubMed: Froyen 2012, PubMed: Moey 2015 - M - - - - - - - ID see paper; ..., moderate intellectual disability; stutter, limited speech; 1 1 Johan den Dunnen
00401568 162P - - M no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00408050 194894 - - M ? Turkey - - - - - MRD44 Global developmental delay, Autistic behavior, Intellectual disability 1 1 Andreas Laner
00435328 262720 - - F no Germany - - - - - MRD44 Tall stature, Microcephaly, Delayed speech and language development, Intellectual disability, Global developmental delay, Motor delay 1 1 Andreas Laner
00453088 Pat44 PubMed: Rots 2024, Journal: Rots 2024 - F - - - - - - - NDD see paper; ... (very detailed phenotype descriptions) 1 1 Johan den Dunnen
00453448 - - - M - - (not applicable) white - - - - ? HP:0010864, HP:0001250 1 1 Marketa Wayhelova
00464408 321808 - - M no Germany - - - - - MRD44 Neurodevelopmental delay, Strabismus, Hypotonia, Intellectual disability, Motor delay, Delayed speech and language development, Microcephaly 1 1 Andreas Laner
00464627 324984 - - F no Germany - - - - - MRD63 Neurodevelopmental delay, Motor delay, Delayed speech and language development, Short stature, Decreased body weight, Hypotonia, Lower limb muscle weakness, Abnormality of mitochondrial metabolism, Supernumerary tooth, Abnormality of the digestive system 1 1 Andreas Laner
00465246 - - - M - - (not applicable) white - - - - NDD HP:0001256, HP:0000717 1 1 Marketa Wayhelova
00466182 - - - F - Brazil - - - - - ? Hypertelorism, Behavioral disorders, Intellectual disability 1 1 Juliana Mazzeu
00467805 patient PubMed: Wheeler 2025 2-generation family, 1 affected M - United States - - - - - ? see paper; ..., 1d-macrocephaly, mild hypoglycemia, cyanosis; 1y-global delays, gross motor delay (9m-sit, 11m-crawl), speech delay, frontal bossing, short stature, hypertelorism; 3y-walk; mild pseudohypertrophy forearms/calves ; earning difficulties both parents 1 1 Johan den Dunnen
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