All individuals with variants in gene PARK2

170 entries on 2 pages. Showing entries 1 - 100.
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VIP     

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Variants     

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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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) 2 1 Yu Sun
00001517 - - - F - - - - - - - CSS brith 39w, weight SD 0, OFC SD 2; camptodactyly 5th fingers, single palmar crease right, narrow, short feet, + (right), narrow, short,+,+; 10m first primary tooth; MRI-brain pachygyria (frontal lobes); seizures onset 7y, low frequency; no hypotonia; birth feeding problems 3y; no eczema (-HP:0000964); generalized tonic-clonic seizures (HP:0002069); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); short philtrum (HP:0000322), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); strabismus (HP:0000486) 1 1 Gijs Santen
00144671 - - - M - (Germany) - - 0 - - ? Action tremor (HP:0002345); Abnormal muscle tone (HP:0003808); Dystonia (HP:0001332) 2 1 IMGAG
00164367 PatII-1 - family, three affected male siblings M yes Iran - - 0 - - PARK-2 - 1 3 Coro Paisan-Ruiz
00164434 930042_II-1 - - F yes Iran - - 0 - - PARK-2 - 2 1 Coro Paisan-Ruiz
00164435 930049_II-1 - - F yes Iran - - 0 - - PARK-2 - 2 1 Coro Paisan-Ruiz
00294027 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 4 Mohammed Faruq
00294028 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00294029 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 2 Mohammed Faruq
00313472 - PubMed: Hedrich 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313473 - PubMed: Rawal 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313474 - PubMed: Illarioshkin 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313475 - PubMed: Munoz 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313476 - PubMed: Maruyama 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313477 - PubMed: Oliveira 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313478 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313479 - PubMed: Nisipeanu 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313480 - PubMed: Munoz 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313481 - PubMed: Kann 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313482 - PubMed: Terreni 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313483 - PubMed: Xu 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313484 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313485 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313486 - PubMed: Hoenicka 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313487 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313488 - PubMed: Foroud 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313489 - PubMed: Hedrich 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313490 - PubMed: Chen 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313491 - PubMed: Farrer 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313492 - PubMed: Chen 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313493 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313494 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313495 - PubMed: Hattori 1998 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313496 - PubMed: Hattori 1998 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313497 - PubMed: Hedrich 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313498 - PubMed: Foroud 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313499 - PubMed: West 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313500 - PubMed: Periquet 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313501 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313502 - PubMed: Pineda-Trujillo 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313503 - PubMed: Hattori 1998 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313504 - PubMed: Hedrich 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313505 - PubMed: Foroud 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313506 - PubMed: Periquet 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313507 - PubMed: Oliveira 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313508 - PubMed: Oliveira 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313509 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313510 - PubMed: Munoz 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313511 - PubMed: Hedrich 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313512 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313513 - PubMed: Chen 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313514 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313515 - PubMed: Klein 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313516 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313517 - PubMed: Oliveira 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313518 - PubMed: Wang 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313519 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313520 - PubMed: Munoz 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313521 - PubMed: West 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313522 - PubMed: Hattori 1998 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313523 - PubMed: Klein 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313524 - PubMed: Hedrich 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313525 - PubMed: Klein 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313526 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 2 1 The Parkinson's Institute - Birgitt Schuele
00313527 - PubMed: Chen 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313528 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313529 - PubMed: Hedrich 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313530 - PubMed: Hedrich 2004 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313531 - PubMed: Kann 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313532 - PubMed: Hedrich 2004 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313533 - PubMed: Oliveira 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313534 - PubMed: Hu 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313535 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313536 - PubMed: Alvarez 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313537 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313538 - PubMed: Nichols 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313539 - PubMed: Periquet 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313540 - PubMed: West 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313541 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313542 - PubMed: Rawal 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313543 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313544 - PubMed: Maruyama 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313545 - PubMed: Hedrich 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313546 - PubMed: Nichols 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313547 - PubMed: West 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313548 - PubMed: Rawal 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313549 - PubMed: Abbas 1999 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313550 - PubMed: Kann 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313551 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313552 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313553 - PubMed: Hedrich 2001 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313554 - PubMed: West 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313555 - PubMed: Hedrich 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313556 - PubMed: Nichols 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313557 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313558 - PubMed: Periquet 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313559 - PubMed: Lucking 2000 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313560 - PubMed: Foroud 2003 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313561 - PubMed: Nichols 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
00313562 - PubMed: Kann 2002 - - - - - - 0 - - PARK - 1 1 The Parkinson's Institute - Birgitt Schuele
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