All individuals with variants in gene POMT2

253 entries on 3 pages. Showing entries 1 - 100.
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00150157 26539891-FamBAB4388 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - ? intellectual diability, microcephaly, cortical dysplasia, Dandy Walker, agenesis of CC, decreased number of sulci and gyrus, cortical gray matter increased, high CPK, encephalocele, microphthalmia, leukocoria (right eye) and enophthalmia (bilaterally), choroid and retinal coloboma 1 1 Johan den Dunnen
00151507 ? - - - - (United States) - - 0 - - MDC - 1 1 Tom Winder
00151969 MP10-0308 - - F no United States African-american 13y 0 - - LGMD Limb-girdle MD (clinical); IHC decreased functional glycosylation 1 1 Aaron Bossler
00152335 - PubMed: Godfrey 2007 - - yes - - - 0 - - MEB - 2 1 Judith Pagan
00152432 - PubMed: van Reeuwijk 2005 first-cousin parents M - Pakistan - - 0 - - WWS - 2 1 Johan den Dunnen
00152433 - PubMed: van Reeuwijk 2005 first cousin parents M - India Bengali - 0 - - WWS - 2 1 Johan den Dunnen
00152434 - PubMed: van Reeuwijk 2005 niece/uncle parents F yes Morocco - - 0 - - WWS CPK 12144 4 1 Johan den Dunnen
00152435 18513969-Pat15 PubMed: Villanova, PubMed: Mercuri 2006, PubMed: Messina 2008 - F - Italy - - 0 - - MEB atypical phenotype; CPK 10x 2 1 Johan den Dunnen
00152436 - - - F - United States - - 0 - - ? CMD 2 1 Tom Winder
00152437 - PubMed: van Reeuwijk 2005 - - - - - - 0 - - MDC - 1 1 Johan den Dunnen
00152438 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152439 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152440 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152441 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152442 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152443 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152444 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152445 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152446 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152447 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152448 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152449 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152450 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152451 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152452 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152453 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152454 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152455 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152456 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152457 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152458 - PubMed: Godfrey 2007 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152459 - PubMed: Clement-Pat12 - - - - - - 0 - - MDC contractures, rigid spine, weakness upper limbs > lower limbs, white matter abnormality; microcephaly, no eye involvement; CPK 3100; intellectual disability (HP:0001249); onset neonatal; not able to sit 2 1 Johan den Dunnen
00152460 - PubMed: Clement-Pat9 - - - - - - 0 - - MDC contractures, hypertrophy, weakness upper and lower limbs, myopia, microcepahly, MRI cerebellar hypoplasia, hydrocephalus, macroglossia; CPK 2000; intellectual disability (HP:0001249); onset neonatal; not able to sit 2 1 Johan den Dunnen
00152461 - PubMed: Clement-Pat19 - - - - - - 0 - - MDC contractures, hypertrophy, scoliosis, congenital cataracts, microcepahly, MRI hydrocephalus, brainstem involvement, white matter abnormality,, seizures, RIP age 11y; CPK 6000; intellectual disability (HP:0001249); onset neonatal; able to sit 2 1 Johan den Dunnen
00152462 Pat16/Pat79 PubMed: Clement, PubMed: O'Grady 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - MDC contractures, no hypertrophy, spine unaffected, hypermetropia, MRI hydrocephalus, white matter abnormality, cerebellar cysts; hypermetropia; not able to sit 2 1 Johan den Dunnen
00152463 - PubMed: Godfrey 2007 - - - - - - 0 - - MDC no contractures, hypertrophy, spine unaffected, microcepahly, white matter abnormality, brainstem involvement,; CPK 5200; intellectual disability (HP:0001249); not able to walk 2 1 Johan den Dunnen
00152464 - PubMed: Clement-Pat17 - - - - - - 0 - - MDC hypertrophy, spine unaffected, weakness upper limbs > lower limbs, myopia, no microcepahly, WM, CDys, CC, PMG; intellectual disability (HP:0001249); able to walk 2 1 Johan den Dunnen
00152465 FamPat15a PubMed: Godfrey 2007 2-generation family, 2 affected, unaffected heterozygous carrier parents F - - - - 0 - - MDC cerebellar CMD, contractures, hypertrophy, weakness upper limbs > lower limbs, microcepahly,; CPK 4700; intellectual disability (HP:0001249); onset infant; able to walk 1 2 Johan den Dunnen
00152466 FamPat15b PubMed: Godfrey 2007 relative of Pat15b - - - - - 0 - - MDC cerebellar CMD, MRI cerebellar hypoplasia, micropenis and cryptorchidism; CPK 5200; intellectual disability (HP:0001249); onset infant; able to sit 1 1 Johan den Dunnen
00152467 - PubMed: Clement-Pat5 - - - - - - 0 - - LGMD no contractures, hypertrophy, spine unaffected, echo right bundle branch block; no microcephaly, no eye involvement; CPK 1900; intellectual disability (HP:0001249); able to walk 2 1 Johan den Dunnen
00152468 - PubMed: Clement-Pat10 - - - - - - 0 - - MDC contractures, hypertrophy, rigid spine, scoliosis, microcepahly, white matter abnormality, brain stem involvement; no eye involvement; CPK 5500; intellectual disability (HP:0001249); onset neonatal; able to sit 2 1 Johan den Dunnen
00152469 - PubMed: Manya 2008 - - - - - 2y6m 0 - - WWS severe 2 1 Johan den Dunnen
00152470 - PubMed: Manya 2008 - - - - - - 0 - - MDC less severe, MRI no severe abnormalities; intellectual disability (HP:0001249) 2 1 Johan den Dunnen
00152471 - PubMed: Manya 2008, PubMed: Yanagisawa 2009 - F - France - 16y 0 - - MDC minor brain structural abnormalities; moderate myopia; CPK 5100; intellectual disability (HP:0001249); onset neonatal; able to stand 3 1 Johan den Dunnen
00152472 - PubMed: Manya 2008 - - - - - - 0 - - MD - 1 1 Johan den Dunnen
00152473 - PubMed: Manya 2008 - - - - - - 0 - - MDC less severe, MRI no severe abnormalities; intellectual disability (HP:0001249) 2 1 Johan den Dunnen
00152474 - - - - yes - - - 0 - - MEB - 2 1 Judith Pagan
00152475 - - - M - United States - - 0 - - MDC microcephaly, cognitive impairment; limited unassisted walking 2 1 Tom Winder
00152476 - - - - - United States - - 0 - - MDC - 2 1 Tom Winder
00152477 18513969-Pat16, 19299310-Pat22 PubMed: Messina 2008, PubMed: Mercuri 2009 - M - Italy - - 0 - - MDC Cerebellar hypoplasia, mild ventricular enlargement, flat pons; CPK 15x; able to walk 2 1 Rosário dos Santos
00152478 18513969-Pat17, 19299310-Pat23 PubMed: Messina 2008, PubMed: Mercuri 2009 - F - Italy - - 0 - - MDC Cerebellar hypoplasia, flat pons; CPK 20x; able to sit 2 1 Rosário dos Santos
00152479 18513969-Pat18, 19299310-Pat25 PubMed: Messina 2008, PubMed: Mercuri 2009 - M - Italy - - 0 - - MDC Cortical dysplasia, cerebellar cysts; CPK 20x; able to sit 1 1 Rosário dos Santos
00152480 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - LIS - 1 1 Johan den Dunnen
00152481 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - LIS - 1 1 Johan den Dunnen
00152482 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - LIS - 2 1 Johan den Dunnen
00152483 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - LIS - 2 1 Johan den Dunnen
00152484 - PubMed: Bouchet 2007 aborted fetus - - (France) - <0y 0 - - LIS - 2 1 Johan den Dunnen
00152485 - PubMed: Biancheri 2007 - F no (Italy) - >5y 0 - - LGMD inflammatory changes, no brain involvement, calf hypertrophy; CPK 2327; able to walk 2 1 Rosário dos Santos
00152486 - PubMed: Murakami 2008 - M - Japan - >4y 0 - - MDC no marked brain malformation and ocular involvement; CPK 33,000; >1,000; DQ: 7m- 83; 3y- 47; onset neonatal; able to walk 2 1 Rosário dos Santos
00152487 - PubMed: Yanagisawa 2009 - F - France - >15y 0 - - MDC Cerebellar cysts; strabismus; CPK 2100; intellectual disability (HP:0001249); onset neonatal; able to sit 3 1 Rosário dos Santos
00152488 - PubMed: Yanagisawa 2009 - M - France - >4y 0 - - MDC Microcephaly; White matter abnormalities; CPK increased; intellectual disability (HP:0001249); onset neonatal; able to sit 2 1 Rosário dos Santos
00152489 - PubMed: Yanagisawa 2009 - M - Portugal - >5y 0 - - MDC Microcephaly; discrete white matter abnormalities;; CPK increased; intellectual disability (HP:0001249); onset neonatal; able to sit 2 1 Rosário dos Santos
00152490 - PubMed: Yanagisawa 2009, PubMed: Ruggieri 2001 sib of patient 6 M - Argentina - 15y 0 - - MDC Focal cerebral dysplasia; minor white matter abnormalities; cerebellar cysts; CPK 1300; intellectual disability (HP:0001249); onset neonatal; able to sit 2 2 Rosário dos Santos
00152491 - PubMed: Ruggieri 2001, PubMed: Yanagisawa 2009 sib of patient 5 F - Argentina - 15y 0 - - MDC Focal cerebral dysplasia; minor white matter abnormalities; cerebellar cysts; CPK 1900; intellectual disability (HP:0001249); onset neonatal; able to sit 2 2 Rosário dos Santos
00152492 - PubMed: Manzini 2008 - - - Palestine - - 0 - - WWS Brain and ocular involvement; CPK elevated; onset neonatal 2 1 Rosário dos Santos
00152493 - PubMed: Manzini 2008 - - - United States white - 0 - - WWS Brain and ocular involvement; tower skull deformity; CPK 2000; onset neonatal 2 1 Rosário dos Santos
00152494 - PubMed: Manzini 2008 - - - Saudi Arabia - - 0 - - WWS Brain and ocular involvement; hydronephrosis; CPK 1666; onset neonatal 2 1 Rosário dos Santos
00152495 - PubMed: Willer 2012 - - - United States - - 0 - - MDC microcephaly, MRI white matter changes, severe speach delay; WWS/MEB ; CPK 6,000-8,000 2 1 Tom Winder
00152496 - - - - - United States - - 0 - - MDC - 2 1 Tom Winder
00152497 - - - F - United States - - 0 - - MDC - 1 1 Tom Winder
00152498 - PubMed: Clement-Pat13 - - - - - - 0 - - MDC microcephaly, no eye involvement; CPK 2900; intellectual disability (HP:0001249) 2 1 Johan den Dunnen
00152499 19067344-Pat26 PubMed: Clement 2008 - - - - - - 0 - - MDC no microcephaly, cataracts, bupthalmus; CPK 3200; intellectual disability (HP:0001249) 1 1 Johan den Dunnen
00152500 - - - - - United States - - 0 - - MDC MRI white matter changes, cognitive delay; CPK 3000 1 1 Tom Winder
00152501 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152502 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152503 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152504 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152505 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152506 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152507 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152508 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152509 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152510 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152511 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152512 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152513 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152514 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152515 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152516 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152517 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152518 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152519 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152520 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152521 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152522 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? - 1 1 Madhuri Hegde
00152523 - - - M - Canada French Canadian - 0 - - MDC - 1 1 Tom Winder
00152524 Pat6 PubMed: Punetha 2016 - M - - - - 0 - - LGMD Very mild-learning disability-ADHD, muscle biopsy showed fiber size variation with type 1 predominance ; CPK highly elevated 2 1 Jaya Punetha
00152525 Pat8 PubMed: Punetha 2016 - F - - - - 0 - - MDC Myopia, dysarthria, weakness, contractures, no joint laxity, cognitive impairment, positive response on steroids. ; CPK moderately elevated 1 1 Jaya Punetha
00152662 18513969-Pat14, 19299310-Pat20 PubMed: Messina 2008, PubMed: Mercuri 2009 - F - Italy - - 0 - - MDC see paper; ... 2 1 Johan den Dunnen
00152670 19299310-Pat18 PubMed: Mercuri 2009 - - - Italy - - 0 - - MDC see paper; … 2 1 Johan den Dunnen
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