Disease #00361

Official abbreviation WWS
Name syndrome, Walker-Warburg (WWS)
OMIM ID -
Individuals reported having this disease 102
Phenotype entries for this disease 102
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

102 entries on 2 pages. Showing entries 1 - 100.
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00016343 - PubMed: Jae 2013 2-generation family, 1 affected, unaffected carrier parents ? no ? (unknown) - - 0 - - WWS typical WWS POMK POMK 2 3 Johan den Dunnen
00016344 - PubMed: Jae 2013 2-generation family, 1 affected, unaffected carrier parents M yes ? (unknown) - 00y22m 0 - - WWS typical WWS TMEM5 TMEM5 1 3 Johan den Dunnen
00016345 - PubMed: Jae 2013 2-generation family, 2 affected sisters, unaffected carrier parents F yes ? (unknown) - - 0 - - WWS milder WWS; 1y-brainstem atrophy, dilated ventricles, widespread pachygyria, substantial white matter involvement TMEM5 TMEM5 1 4 Johan den Dunnen
00016348 - PubMed: Jae 2013 2-generation family, sister F yes ? (unknown) - - 0 - - WWS WWS, milder TMEM5 TMEM5 1 1 Johan den Dunnen
00056445 - - 4-generation family, 1 affected M yes Jordan - <1m 0 - - WWS cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia, retinal dysplasia, hypotonia POMGNT2 POMGNT2 2 1 Johan den Dunnen
00056447 - - 4-generation family, 1 affected F yes Saudi Arabia - <1m 0 - - WWS cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia, microphthalmia, macrophthalmia, hypotonia POMGNT2 POMGNT2 2 1 Johan den Dunnen
00056449 - - 2-generation family, fetus 1 F ? India - <0d 0 - - WWS cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia; 23w-terminated pregnancy ventricular enlargement POMGNT2 POMGNT2 2 1 Johan den Dunnen
00056450 - - 2-generation family, fetus 2 F ? India - <0d 0 - - WWS cobbelstone lissencephaly, enlarged ventricles, cerebellar hypolplasia; 20w-terminated pregnancy ventricular enlargement POMGNT2 POMGNT2 2 1 Johan den Dunnen
00057849 - PubMed: Stevens 2013 - F no South Africa - - 0 - - WWS terminated pregnancy, fetus severe hydrocephalus, ocular malformations (fetal ultrasound) B3GALNT2 B3GALNT2 2 2 Johan den Dunnen
00057853 - PubMed: Stevens 2013 - M no South Africa - - 0 - - WWS brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 6964 U/L B3GALNT2 B3GALNT2 2 2 Johan den Dunnen
00057857 - PubMed: Stevens 2013 - F no United States Caucasian - 0 - - WWS brain MRI severe hydrocephalus, cobblestone lissencephaly, epilepsy, severe hyptonia, did not attain any motor milestones; CPK: 21000 U/L B3GALNT2 B3GALNT2 2 1 Johan den Dunnen
00057861 - PubMed: Stevens 2013 - M ? United States Hispanic - 0 - - WWS brain MRI severe hydrocephalus, cobblestone lissencephaly, severe hyptonia, did not attain any motor milestones; CPK: 1086 U/L B3GALNT2 B3GALNT2 2 1 Johan den Dunnen
00146605 Pat2/Pat13 PubMed: Beltran, PubMed: Mercuri 2006, OMIM:var0017 no change in POMT1 and POMGnT1 genes F - - Asia 3y 0 - - WWS - FKRP FKRP 2 1 Johan den Dunnen
00146828 P11 PubMed: Manzini 2008 - ? - Saudi Arabia - - 0 - - WWS CPK 5941 FKRP FKRP 2 1 Johan den Dunnen
00146829 P10 PubMed: Manzini 2008 - ? no United States caucasian - 0 - - WWS - FKRP FKRP 2 1 Rosário dos Santos
00146830 20236121-Pat1 PubMed: VanReeuwijk 2010 4-generation family, 2 affecteds, unaffected carriers M yes Netherlands - - 0 - - WWS born after elective Caesarean section; severe hydrocephalus macrocephalic, birth weight 3120g, head circumference 43cm (+2SD), anterior fontanel large/bulging with palpable separation cranial sutures; limited spontaneous limb movements, depressed tendon reflexes, no sucking reflex, grasping hands/absent both feet; asymmetric pupils, smaller right eye, pupillary light reflexes bilaterally absent, iris blood vessels dilated, bilateral cataracts; MRI brain abnormalities FKRP FKRP 2 4 Johan den Dunnen
00146831 20236121-Pat2 PubMed: VanReeuwijk 2010 4-generation family, sib of 20236121-Pat1 - yes Netherlands - - 0 - - WWS pregnancy terminate (birth weight 530g), no visible eye abnormalities FKRP FKRP 2 1 Johan den Dunnen
00146856 20961758-Pat1 PubMed: Yis 2010 - F - Greece;Croatia (Hrvatska) - - 0 - - WWS CPK level 2236-6685 FKRP FKRP, FKTN 3 2 Johan den Dunnen
00151380 - PubMed: Buysse 2013 2-generation family, 4 affecteds (3 terminated pregnancies), unaffected heterozygous carrier parents M no India East 02y 0 - - WWS hydrocephalus, Dandy-Walker malformation, retinal dysplasia, severe hypotonia, seizures; MRI typical WWS (ventricular enlargement, diffuse widening gyri, disorganization cortical sulci with areas of cobblestone lissencephaly along posterior aspects occipital lobes/temporal lobes; affected brain stem/cerebellum; CPK level 3180 u/L B3GNT1 B3GNT1 2 4 Johan den Dunnen
00151435 ? - - F - United States - - 0 - - WWS - FKTN FKTN 2 1 Tom Winder
00151436 Pat2 PubMed: Beltran-Valero 2003 - - - - - - 0 - - WWS - FKTN FKTN 2 1 Johan den Dunnen
00151437 Pat1 PubMed: Beltran-Valero 2003 first cousin parents M - Turkey - - 0 - - WWS - FKTN FKTN 2 1 Johan den Dunnen
00151467 ? - - F - United States - - 0 - - WWS - FKTN FKTN 1 1 Tom Winder
00151481 - PubMed: Godfrey 2007 - - - - - - 0 - - WWS contractures, hypertrophy, spine unaffected, retinal detachment, micropthalmia, MRI hydrocephaly, cerebellar hypoplasia, white matter abnormality, brainstem involvement, dysmorphic; CPK level 7000 FKTN FKTN 2 1 Johan den Dunnen
00151488 patient1 {PMID18177472 :Cotarelo 2008} - F no Spain - 5d 0 - - WWS Dysmorphic facial features, brain and ocular changes; CPK level elevated FKTN FKTN 2 1 Rosário dos Santos
00151489 patient2 {PMID18177472 :Cotarelo 2008} - M no - Ashkenazi Jewish - 0 - - WWS Hydrocephaly; brain and ocular changes FKTN FKTN 2 1 Rosário dos Santos
00151491 ? PubMed: Manzini 2008, PubMed: Willer 2012 GM16192 Coriell Cell Repository - no United States Caucasian - 0 - - WWS brain and eye involvement, seizures; CPK level 2255 FKTN FKTN 2 1 Rosário dos Santos
00151492 ? PubMed: Manzini 2008 - - - United States Hispanic - 0 - - WWS - FKTN FKTN 2 1 Rosário dos Santos
00151493 ? PubMed: Manzini 2008 - - no - Ashkenazi - 0 - - WWS CPK level elevated FKTN FKTN 2 1 Rosário dos Santos
00151494 ? PubMed: Manzini 2008 - - no - Ashkenazi - 0 - - WWS CPK level 39146 FKTN FKTN 2 1 Rosário dos Santos
00151495 ? PubMed: Manzini 2008 - - no - Ashkenazi - 0 - - WWS CPK level 9900 FKTN FKTN 2 1 Rosário dos Santos
00151508 ? - no variants in POMT1, POMT2, POMGnT1, FKRP, LARGE - - (United States) - - 0 - - WWS - FKTN FKTN 1 1 Tom Winder
00151509 ? - - - - Mexico Hispanic - 0 - - WWS - FKTN FKTN 1 1 Tom Winder
00151510 ? - - - - United States - - 0 - - WWS - FKTN FKTN 2 1 Tom Winder
00152151 - PubMed: Taniguchi 2003 - F - Italy - - 0 - - WWS atypical phenotype; congenital muscular dystrophy, retinal dysplasia, cerebellar vermis hypoplasia, type II lissencephaly, hydrocephalus POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152154 - PubMed: Taniguchi 2003, PubMed: Manya 2003 - F - Japan American - 0 - - WWS phenotype hypotonia, high VEP, cataracts, cerebellar vermis hypoplasia, type II lissencephaly POMGNT1 POMGNT1 2 1 Johan den Dunnen
00152171 17878207-Pat24 PubMed: Godfrey 2007, PubMed: Clement - - - - - - 0 - - WWS spine unaffected, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, cerebellar cysts, lissencephaly; no eye involvement, ?microcephaly; CPK 1300; intellectual disability (HP:0001249); onset neonatal; not able to sit POMGNT1 POMGNT1 1 1 Johan den Dunnen
00152235 - PubMed: Currier 2005 - - - - - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152237 - PubMed: Currier 2005 - - - United States white - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152238 - PubMed: Kim 2004, PubMed: Akasaka Manya 2004, PubMed: Matsumoto 2005, OMIM:var0004 - M no Japan - >3y6m 0 - - WWS no protein activity; CPK 6000-31000; intellectual disability (HP:0001249) POMT1 POMT1 1 1 Johan den Dunnen
00152239 - PubMed: van Reeuwijk 2006 - - - Qatar - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152240 - PubMed: Yis 2007 - M - Turkey - - 0 - - WWS CPK 1850 POMT1 POMT1 2 1 Johan den Dunnen
00152241 - PubMed: Beltran-Valero de Bernabe 2002 - - yes Italy Gypsy - 0 - - WWS hydrocephalus, cobblestone lissencephaly with agyria and agenesis corpus callosum, hypoplasia cerebellar vermis in posterior cranial fossa, buphthalmos, retinal dysplasia, lens opacities; CPK >3500 POMT1 POMT1 5 1 Johan den Dunnen
00152242 - PubMed: van Reeuwijk 2006 - - - Ireland - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152243 - - - M - United States - - 0 - - WWS - POMT1 POMT1 1 1 Tom Winder
00152244 - PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001, PubMed: Akasaka Manya 2004 first cousin parents F;M yes Turkey - - 0 - - WWS CPK >2000 / ? POMT1 POMT1 1 1 Johan den Dunnen
00152245 - PubMed: van Reeuwijk 2006 - - - Pakistan - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152246 - PubMed: van Reeuwijk 2006 2 affecteds - - Lebanon - - 0 - - WWS - POMT1 POMT1 1 2 Johan den Dunnen
00152252 - PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001 first cousin parents F yes Turkey - 3y 0 - - WWS cobblestone lissencephaly, microphthalmia, buphthalmos, megalocornea, glaucoma, retinal dysplasia, one fetus encephalocele; CPK 1700 POMT1 POMT1 1 1 Johan den Dunnen
00152253 - PubMed: Beltran-Valero de Bernabe 2002, PubMed: Cormand 2001 first cousin parents F yes Turkey - 2m 0 - - WWS CPK >2000 POMT1 POMT1 1 1 Johan den Dunnen
00152254 - PubMed: van Reeuwijk 2006 - - - Turkey - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152255 - PubMed: Beltran-Valero de Bernabe 2002, PubMed: Akasaka Manya 2004 - F no Netherlands - - 0 - - WWS hydrocephalus, cobblestone lissencephaly, cerebellar atrophy, bilateral microphthalmia, frontal bossing; pregnancy terminated for exencephaly POMT1 POMT1 2 1 Johan den Dunnen
00152260 - PubMed: van Reeuwijk 2006 - - - Netherlands - - 0 - - WWS - POMT1 POMT1 2 1 Johan den Dunnen
00152261 - PubMed: van Reeuwijk 2006 - - - India - - 0 - - WWS - POMT1 POMT1 2 1 Johan den Dunnen
00152267 - PubMed: Beltran-Valero de Bernabe 2002 monozygoitc twin girls F no Austria - - 0 - - WWS encephalocele, pachygyria/agyria; on MRI, large ventricles, cerebellar vermis hypoplasia/aplasia, corpus callosum hypoplasia, cataract; one bilateral microtia; CPK markedly raised POMT1 POMT1 1 2 Johan den Dunnen
00152272 - PubMed: Currier 2005 - - - - - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152288 - PubMed: Currier 2005 - - - - - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152289 - PubMed: Currier 2005 - - - - - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152290 - PubMed: Currier 2005 - - - Italy - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152291 - PubMed: Currier 2005 - - - - - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152313 - PubMed: Godfrey 2007 - - - - - - 0 - - WWS contractures, hypertrophy, scoliosis, rigid spine, weakness lower limbs > upper limbs, poor visual attention, microcepahly, MRI hydrocephalus, cerebellar hypoplasia, white matter abnormality, lissencephaly, gastrostomy; CPK 4000; intellectual disability (HP:0001249); not able to sit POMT1 POMT1 1 1 Johan den Dunnen
00152314 - PubMed: Godfrey 2007 - - - - - - 0 - - WWS contractures, hypertrophy, scoliosis, rigid spine, weakness lower limbs > upper limbs, poor visual attention, microcepahly, MRI hydrocephalus, cerebellar hypoplasia, white matter abnormality, lissencephaly, gastrostomy; CPK 4000; intellectual disability (HP:0001249); not able to sit POMT1 POMT1 1 1 Johan den Dunnen
00152339 - - - M - - Middle East - 0 - - WWS - POMT1 POMT1 4 1 Tom Winder
00152349 - - - - - United States - - 0 - - WWS - POMT1 POMT1 2 1 Tom Winder
00152353 - PubMed: Bouchet 2007 - - - France - - 0 - - WWS - POMT1 POMT1 1 1 Johan den Dunnen
00152362 - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (21w) - yes France - <0y 0 - - WWS pregnancy terminated for hydocephaly with hypoplastic cerebellar vermis. Neuropathology; brain abnormalities LIS type II, dilated ventricles, meningocele, ocular asymmetry POMT1 POMT1 4 1 Johan den Dunnen
00152363 - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (20w), related to F5f2, F5f3 - no France - <0y 0 - - WWS pregnancy terminated for dilated cerebral ventricles, fusion cerebral hemispheres, bilateral cleft lip/palate POMT1 POMT1 3 1 Johan den Dunnen
00152364 - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (20w), related to F5f1, F5f3 - no France - <0y 0 - - WWS pregnancy terminated for exencephaly associated to large encephalocele with prominent cortical dysplasia POMT1 POMT1 3 1 Johan den Dunnen
00152365 - PubMed: Bouchet 2007, PubMed: Bouchet 2007 aborted fetus (20w), related to F5f1, F5f2 - no France - <0y 0 - - WWS pregnancy terminated for hydrocephaly, dilated cerebral ventricles, bilateral cleft lip/palate POMT1 POMT1 3 1 Johan den Dunnen
00152366 - PubMed: Bouchet 2007 aborted fetus (41w) - yes France - <0y 0 - - WWS pregnancy terminated for holoprosencephaly, major hydrocephaly. Dysmorphic features; macrocephaly with wide convex forehead, large fontanel, bilateral cleft lip, no ocular anomaly Neuropathology; LIS type II, muscular dystrophy POMT1 POMT1 8 1 Johan den Dunnen
00152372 - PubMed: Vasjar, 2008 Cleft lip and palate M - - - 9m 0 - - WWS Hypotonia, hydrocephalus, brain and ocular changes; CPK 4755 POMT1 POMT1 2 1 Rosário dos Santos
00152373 - PubMed: Manzini 2008 - - yes Saudi Arabia - - 0 - - WWS Brain and ocular involvement; seizures and congenital hip dislocation; CPK 1545; onset neonatal POMT1 POMT1 2 1 Rosário dos Santos
00152374 - PubMed: Judas 2009 - M - Croatia (Hrvatska) Gypsy 2y6m 0 - - WWS no signs of psychomotor development, gradual development hypertensive hydrocephalus; eye dense opacities of anterior parts, glaucoma, buphthalmus; cysts both kidneys; CPK 5292 POMT1 POMT1 2 1 Johan den Dunnen
00152375 - PubMed: Manzini 2008 sib of patient Fam2-b - yes Saudi Arabia - - 0 - - WWS Brain and ocular involvement; CPK 1565; onset neonatal POMT1 POMT1 2 1 Rosário dos Santos
00152376 - PubMed: Manzini 2008 sib of patient Fam2-a - yes Saudi Arabia - - 0 - - WWS Brain and ocular involvement; seizures; CPK 787; onset neonatal POMT1 POMT1 2 1 Rosário dos Santos
00152377 - PubMed: Manzini 2008 - - no United States African - 0 - - WWS Brain and ocular involvement; seizures, contractures and polydactyly; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152378 - PubMed: Manzini 2008 - - no United States African - 0 - - WWS Brain and ocular involvement; seizures, contractures and polydactyly; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152379 - PubMed: Manzini 2008 - - yes Israel Arab - 0 - - WWS Brain and ocular involvement; contractures, bilateral kidney dysplasia; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152380 - PubMed: Manzini 2008 - - yes Israel Arab - 0 - - WWS Brain and ocular involvement; contractures, bilateral kidney dysplasia; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152381 - PubMed: Manzini 2008 - - yes Bahrain - - 0 - - WWS Brain and ocular involvement; hydronephrosis; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152382 - PubMed: Manzini 2008 - - yes Bahrain - - 0 - - WWS Brain and ocular involvement; hydronephrosis; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152383 - PubMed: Manzini 2008 - - yes United States Hispanic - 0 - - WWS Brain and ocular involvement; CPK 5000; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152384 - PubMed: Manzini 2008 - - yes United States Hispanic - 0 - - WWS Brain and ocular involvement; CPK 5000; onset neonatal POMT1 POMT1 1 1 Rosário dos Santos
00152386 - - - F - (United States) - - 0 - - WWS - POMT1 POMT1 2 1 Tom Winder
00152387 - - - - - (Israel) Libian;Iraqi - 0 - - WWS - POMT1 POMT1 2 1 Tom Winder
00152388 - - - - - (United States) - - 0 - - WWS - POMT1 POMT1 2 1 Tom Winder
00152390 - - - - - (United States) Arab - 0 - - WWS - POMT1 POMT1 1 1 Tom Winder
00152395 - PubMed: Willer 2012 cell line - - - - - 0 - - WWS - POMT1 POMT1 2 1 Johan den Dunnen
00152396 - - - F - United States - - 0 - - WWS - POMT1 POMT1 2 1 Tom Winder
00152397 - - - - - United States white - 0 - - WWS type II lissencephaly, hydrocephalus, POMT1 POMT1 2 1 Tom Winder
00152432 - PubMed: van Reeuwijk 2005 first-cousin parents M - Pakistan - - 0 - - WWS - POMT2 POMT2 2 1 Johan den Dunnen
00152433 - PubMed: van Reeuwijk 2005 first cousin parents M - India Bengali - 0 - - WWS - POMT2 POMT2 2 1 Johan den Dunnen
00152434 - PubMed: van Reeuwijk 2005 niece/uncle parents F yes Morocco - - 0 - - WWS CPK 12144 POMT2 POMT2 4 1 Johan den Dunnen
00152469 - PubMed: Manya 2008 - - - - - 2y6m 0 - - WWS severe POMT2 POMT2 2 1 Johan den Dunnen
00152492 - PubMed: Manzini 2008 - - - Palestine - - 0 - - WWS Brain and ocular involvement; CPK elevated; onset neonatal POMT2 POMT2 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 POMT2 POMT2 2 1 Rosário dos Santos
00152494 - PubMed: Manzini 2008 - - - Saudi Arabia - - 0 - - WWS Brain and ocular involvement; hydronephrosis; CPK 1666; onset neonatal POMT2 POMT2 2 1 Rosário dos Santos
00152610 - PubMed: van Reeuwijk 2007 unaffected carrier parents second degree cousins; brother of 17436019.1 M - Saudi Arabia - - 0 - - WWS phenotype see paper; CPK 180x LARGE LARGE 1 1 Johan den Dunnen
00152611 - PubMed: van Reeuwijk 2007 unaffected carrier parents second degree cousins; sister of 17436019.2 F - Saudi Arabia - - 0 - - WWS phenotype see paper; CPK 10-286x LARGE LARGE 1 1 Johan den Dunnen
00152624 - PubMed: Clement - - - - - - 0 - - WWS contractures, retinal detachmenty, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, lissencephaly, feeding difficulties, RIP 8w; ?microcephaly; CPK 5700; intellectual disability; no motor milestones LARGE LARGE 2 1 Johan den Dunnen
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