All individuals with variants in gene RAI1

34 entries on 1 page. Showing entries 1 - 34.
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00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
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) 1 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) 1 1 Yu Sun
00019869 - PubMed: Gilissen 2014 - ? ? - - - - - - ID neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis. 1 1 Marianne Vos (LOVD-team)
00024244 - PubMed: Gilissen 2014 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00036635 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036636 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036637 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036638 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036639 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036640 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036641 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00036642 - - - - - Germany - - - - - ? behavioral disorder 1 1 Andreas Laner
00036643 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00050103 - PubMed: Lu 2007, Journal: Lu 2007 - M - - - >18y - - - VUR2 see paper; bilateral high-grade VUR, right megaureter at UVJ; 9y-required ureteral reimplantation surgery; wide-open right/left ureteral orifices due to bilateral absence of intravesical ureteral segments, ... 1 1 Johan den Dunnen
00174869 - - - M - (Germany) - - - - - ? Intellectual disability (HP:0001249); Obesity (HP:0001513) 1 1 IMGAG
00218413 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Sleep disturbance (HP:0002360); Behavioral abnormality (HP:0000708) 1 1 IMGAG
00289311 - - - F - - - - - - - ? Intellectual disability (HP:0001249); Truncal obesity (HP:0001956); Behavioral abnormality (HP:0000708); Brachydactyly (HP:0001156); Short neck (HP:0000470); Telecanthus (HP:0000506); Thin upper lip vermilion (HP:0000219) 1 1 IMGAG
00291650 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00291651 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00295667 - - - F - - - - - - - ? Lower limb asymmetry (HP:0100559); Intellectual disability, mild (HP:0001256); Global developmental delay (HP:0001263); Talipes valgus (HP:0004684); Obsessive-compulsive behavior (HP:0000722); Dry skin (HP:0000958) 1 1 Andreas Laner
00296766 APN-46 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ID moderate intellectual disability 1 1 Johan den Dunnen
00307309 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Intellectual disability (HP:0001249) 1 1 Andreas Laner
00315012 GDB1410 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00359459 - - - F - - - - - - - ? Intellectual disability (HP:0001249); Prominent nasal tip (HP:0005274); Attention deficit hyperactivity disorder (HP:0007018) 1 1 IMGAG
00361615 09DG-00001 PubMed: Anazi 2017 simplex case F no Saudi Arabia - - - - - ID syndromic; intellectual disability, dysmorphism and short stature 1 1 Johan den Dunnen
00403108 family PubMed: Wang 2014 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - POF see paper; ... 2 2 Johan den Dunnen
00409864 196579 - - M ? Turkey - - - - - SMS Autism, Autistic behavior, Attention deficit hyperactivity disorder, Myopia, Hypertension, Obesity, Synophrys, Sensorineural hearing impairment, Delayed speech and language development, Abnormality of pain sensation, Abnormal aggressive, impulsive or violent behavior, Self-injurious behavior, Short toe, Sleep disturbance, Brachydactyly 1 1 Andreas Laner
00431213 FamPatII2 PubMed: Adams 2014 sister F - - Jew-Ashkenazi - - - - PCKDC, SMS episodic fasting hypoglycemia, lactic acidemia, see paper; ..., obesity, brachydactyly, developmental delay, cognitive impairment, behavioral outbursts, sleep disruption, facial appearance 1 1 Johan den Dunnen
00431876 SIDS066 - - M - Switzerland Europe 00y04m - - - SIDS SIDS 1 1 Cordula Haas
00433658 - - - - - - - - - - - SMS ID, behavioural abnormalities, obesity, visual and hearing defect 1 1 Marketa Wayhelova
00434050 - - - - - - - - - - - SMS growth restriction, microcephaly, developmental delay, hearing defect, ichtyosis vulgaris 1 1 Marketa Wayhelova
00435356 264393 - - M no Germany - - - - - SMS Neurodevelopmental delay, Short attention span, Hyperactivity 1 1 Andreas Laner
00462132 - - - M - - (not applicable) white - - - - NDD HP:0001256, HP:0000717, HP:0000729, HP:0000736, HP:0000271 1 1 Marketa Wayhelova
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