All individuals with variants in gene SLITRK2

24 entries on 1 page. Showing entries 1 - 24.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 5 1 Yu Sun
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) 8 1 Yu Sun
00173360 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173361 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 3 Lucy Raymond
00173362 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 147 Lucy Raymond
00173363 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173662 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00441868 ID1-3 - - M no - South Asian - - - - ID - 1 1 Hammal Khan Zehri
00441894 Fam1Pat1 PubMed: El Chehadeh 2022 2-generation family, 2 affected brothers (2M), unaffected non-carrier parents M - France white - - - - NDD see paper; ..., OFC >+2 SDS; height 0 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; mild intellectual disability; no seizures; no spasticity, no dystonia; steady gait; anxiety; MRI brain normal 1 2 Johan den Dunnen
00441895 Fam1Pat2 PubMed: El Chehadeh 2022 brother M - France white - - - - NDD see paper; ..., OFC >+2 SDS; height 0 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; no spasticity, no dystonia; steady gait; major anxiety, autism spectrum disorder, mutism, aggressiveness; MRI brain normal 1 1 Johan den Dunnen
00441896 Pat3 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - United States white - - - - NDD see paper; ..., height <−5 SDS; feeding difficulties, gastric tube feeding; kyphoscoliosis; developmental delay, normal before regression; speech regression; severe intellectual disability; 10y-seizures, multifocal, prominent in left central region; spasticity; unsteady gait, 21y-wheelchair-bound; no neuropsychiatric manifestations; MRI brain severe cerebral and cerebellar volume loss, ventricle dilation, atrophy of corpus callosum and brainstem, bilateral hippocampal atrophy with increased FLAIR signal 1 1 Johan den Dunnen
00441897 Pat4 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - NDD see paper; ..., OFC <−2 SDS; height -2.5 SDS; feeding difficulties, gastroesophageal reflux; kyphoscoliosis; developmental delay; no speech; severe intellectual disability; 11m-seizures, generalized seizures; diplegic cerebral palsy; unsteady gait, walks with support; autism spectrum disorder, anxiety, mutism, aggressiveness; MRI brain thin corpus callosum, white matter diffuse reduction, and leukomalacia 1 1 Johan den Dunnen
00441898 Pat5 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - NDD see paper; ..., short stature (<−2 DS); feeding difficulties, gastroesophageal reflux, percutaneous endoscopic gastrostomy; kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; dystonic diplegia; unsteady gait, uses a walker and wheelchair for getting around; anxiety, attention-deficit hyperactivity disorder; MRI brain paucity of white matter, bilateral periventricular lesions, lateral ventricles dilation 1 1 Johan den Dunnen
00441899 Pat7 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - Netherlands - - - - - NDD see paper; ..., OFC +1.5 SDS; height +1 SDS; no feeding difficulties; kyphoscoliosis; developmental delay; speech delay; moderate/severe intellectual disability; no seizures; no spasticity, no dystonia; unsteady gait; autism spectrum disorder, anxiety, hyperactivity 1 1 Johan den Dunnen
00441900 Pat8 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother M - Denmark - - - - - NDD see paper; ..., height +0.5 SDS; no feeding difficulties; no kyphoscoliosis; developmental delay; speech delay; mild intellectual disability; 8y-seizures, focal seizures; no spasticity, no dystonia; steady gait; anxiety, attention-deficit hyperactivity disorder, very sensitive, easily frustrated; MRI brain unspecific minor white substance punctate changes on the right side around the trigonum 1 1 Johan den Dunnen
00441901 Pat9 PubMed: El Chehadeh 2022 - M - - - - - - - NDD - 1 1 Johan den Dunnen
00441902 Pat10 PubMed: El Chehadeh 2022 2-generation family, 1 affected, unaffected carrier mother/grandmother M - United States - - - - - NDD see paper; ..., OFC +0.8 SDS; height +0.5 SDS; feeding difficulties, gastroesophageal reflux; no kyphoscoliosis; developmental delay; language impairment; border line intellectual disability; no seizures; no spasticity, no dystonia; steady gait; autism spectrum disorder, severe anxiety, attention-deficit hyperactivity disorder, OCD, vocal tics 1 1 Johan den Dunnen
00441903 Pat11 PubMed: El Chehadeh 2022 - M - - - - - - - NDD - 1 1 Johan den Dunnen
00441904 Pat12 PubMed: El Chehadeh 2022 - M - - - - - - - NDD - 1 1 Johan den Dunnen
00441905 Pat13 PubMed: El Chehadeh 2022 - M - - - - - - - NDD - 1 1 Johan den Dunnen
00441906 Pat14 PubMed: El Chehadeh 2022 - M - - - - - - - NDD - 1 1 Johan den Dunnen
00441907 DECIPHER PubMed: El Chehadeh 2022 - M - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00441908 DECIPHER PubMed: El Chehadeh 2022 - M - United Kingdom (Great Britain) - - - - - NDD - 1 1 Johan den Dunnen
00443463 SLITRK2 Journal: Afsar 2024 2-generation family, 1 affected, unaffected carrier mother M - (Pakistan) - - - - - ? Developmental delay, hypotonia 1 1 Muhammad Umair
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