All individuals with variants in gene ARID1A

113 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00001510 - - - M - - - - - - - CSS no baby teeth lost by 6y; feeding problems 3y; no seizures (-HP:0001250); moderate speech delay (HP:0000750); mild intellectual disability; difficulties with social cues, loving, happy, some problems with processing; no anteverted nares (-HP:0000463); pectus excavatum (HP:0000767); no small patella (-HP:0003065);;; gastro-esophoegal reflux (HP:0002020); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); MRI brain normal; 3 1 Gijs Santen
00001513 - - - F - - - - - - - CSS brith 38w, weight SD 1, OFC 35.5 cm; Umbilical hernia delayed puberty, menarche > 18Y, irregular menses; MRI-brain 10y multiple hypointense T1 and hyperintense T2 focal lesions in the peritrigonal regions. Enlarged Virchow-Robin spaces, malformation of left hypocampus); seizures TCG and partial motor; seizures onset 2y; hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; agitatiom, fobias, coprolalia responds to Risperidone; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no absent 5th distal phalanx; small nails 5th only; markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges; no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); 3 1 Gijs Santen
00001519 - - - F - - - - - - - CSS brith 39w+5, weight SD -0.2; Pierre Robin sequence,Microphthalmia,Hypertelorism,Bitemporal narrowing,Asymmetric facies,Short 4th/5th metacarpals hand,Dense aspect metaphysis radius, ulna and femur,Narrow auditory canals,Fetal finger pads,Knee pain,Asymmetric facies,High pain tolerance; tilted papils with surrounding hyperpigmentation, myopia -2.5D (HP:0000545); generalized hypotonia; birth feeding problems 2.5y; no eczema (-HP:0000964); no seizures (-HP:0001250); delayed growth (HP:00001510); severe speech delay (HP:0000750); mild intellectual disability; anxiety (HP:0000739); normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); cleft palate (HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); small nails 5th only; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); strabismus (HP:0000486) 2 1 Gijs Santen
00001521 - - - M - - - - - - - CSS brith 40w, weight SD -1.9; Cryptorchidism,Hernia umbilicus; MRI-brain delayed myelinisation; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; anger outbursts; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); wide philtrum (HP:0000289); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); no hypertrichosis (-HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); absent 5th distal phalanx; multiple small nails (incl. 5th);; ; hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); 2 1 Gijs Santen
00001524 - - - M - - - - - - - CSS brith 40w, weight SD -0.8; MRI-brain Mild delayed myelinisation; generalized hypotonia; birth feeding problems; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); constipation; mild mitral valve insufficiency; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); 3 1 Gijs Santen
00001526 - - - M - - - - - - - CSS brith 40w, weight SD 0; no seizures (-HP:0001250); severe speech delay (HP:0000750); severe intellectual disability; friendly personality; anteverted nares (HP:0000463); small nails (HP:0001792); markedly delayed bone age (HP:0003799);; ; joint laxity (HP:0001388); congenital hirschprung disease; no cardiac abnormality (-HP:0001627); corpus callosum agenesis (HP:0001274); 1 1 Gijs Santen
00001530 - - - F - - - - - - - CSS brith 37w, weight SD -1.2; high pain threshold, pulls out hair; laryngomalacia, 3-4 café-au-lait patches, sacral dimple, right single plamer crease, tongue tie, cold hands and feet, optic nerve hypoplasia; seizures onset 3y; optic nerve hypoplasia; generalized hypotonia; birth feeding problems ongoing; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); generalized tonic-clonic seizures (HP:0002069); delayed growth (HP:00001510); no hearing loss (-HP:0000365), sensitive hearing; severe speech delay (HP:0000750); severe intellectual disability; autism (HP:0000717); normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), 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 small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, cone shaped epiphyses (HP:0010579), hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); corpus callosum agenesis (HP:0001274), colpocephaly (HP:0030048), Dandy-Walker malformation (HP:0001305), agenesis corpus callosum (HP:0001274); umbilical hernia (HP:0001537); astigmatism (HP:0000483); 1 1 Gijs Santen
00001533 - - - F - - - - - - - CSS brith 41w, weight SD 1; mid face hypoplasia, hypertelorism, dental decay, mild lumbar lordosis, Shoret halluces, GOR, constipation; episodes of eye rolling; birth feeding problems; glue ear; mild speech delay (HP:0000750); mild intellectual disability; lashes out, poor sleep; anteverted nares (HP:0000463); long philtrum (HP:0000343); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); markedly delayed bone age (HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no intestinal anomalies (-HP:0002242); recurrent infections (HP:0002719); MRI brain normal; 4 1 Gijs Santen
00001535 - - - F - - - - - - - CSS brith 39w, weight SD -1.3, OFC 49 cm; tantrums, long hands and feet,Sacral dimple,Stridor in first week,Extra front tooth,Enlarged labia,Gluten sensitivity,Lactose intolerance,Sllep difficulties,Plaigocephaly,Brachycephaly,Bulbous nasal tip,Long nose,Pointed chin; sensitive to light; generalized hypotonia; birth feeding problems; eczema (HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); moderate speech delay (HP:0000750); moderate-severe intellectual disability; autism (HP:0000717); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); 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 brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); MRI brain normal; 4 1 Gijs Santen
00001537 - - - F - - - - - - - CSS brith 40w, weight SD 2.3; short neck, small teeth with gaps, hypopigmented patch, small hands and feet, long fingers, minor leg length discrepancy, no axilliary hair, constipation, high pain threshold; delayed visual maturation; generalized hypotonia; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); glue ear, sensitive to sounds; severe speech delay (HP:0000750); severe intellectual disability; anxiety (HP:0000739), autism (HP:0000717); normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); no ptosis (-HP:0000520); choanal stenosis (HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), no anteverted nares (-HP:0000463), thick alae (HP:0009928); normal philtrum (-HP:0000288); wide mouth (HP:0000154); no cleft palate (-HP:0000175); normal ears (-HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); no brachydactyly (-HP:000156); no small nails (-HP:0001792); markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); umbilical hernia (HP:0001537); strabismus (HP:0000486), nystagmus (HP:0000639) 3 1 Gijs Santen
00001540 - - - F - - - - - - - CSS brith 40w, weight SD -3, OFC 35 cm; supernumerary thoracic vertebra (T13), cleft T5, bifid V rib; MRI-brain Mega cisterna magna, Absent rostrum corpus callosum and septum pellucidum, Hypoplastic posterior part corpus callosum; generalized hypotonia; birth abdominal feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); moderate-severe speech delayed (HP:0000750); moderate-severe intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); choanal stenosis (HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343), wide philtrum (HP:0000289); no 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); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no small patella (-HP:0003065); brachydactyly (HP:000156); multiple small nails; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); no intestinal anomalies (-HP:0002242); no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); partial agenesis corpus callosum; optic disk (nerve) coloboma (HP:0000588); 1 1 Gijs Santen
00001544 - - - M - - - - - - - NCBRS brith post term, weight SD 1; hair microscopy normal,Rarely sweats,Never had nails cut.,Reduced subcutaneous fat,Fetal pads,Long toes with bulbous tips,Coarse face; MRI-brain Increased perivascular spaces; seizures, initially just loss of consciousness, 2y6m 1st generalised tonic-clonic seizure; seizures onset 2y, 1 per 2m; no hypotonia; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); seizures (HP:0001250), generalized tonic-clonic seizures (HP:0002069); normal vision (-HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate-severe intellectual disability; active, tries to escape, erratic, no sense of danger, 8y-eating excessively, sleeps little, 10y-obsessive, does not like clothes; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), anteverted nares (HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); wide mouth (HP:0000154); thick lower lip vermillion (HP:0000179); no cleft palate (-HP:0000175); ear abnormality (HP:0000598), no ear tags (-HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); prominent interphalangeal joints (HP:0006237), no prominent distal phalange, no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; no joint laxity (-HP:0001388); diarrhoea,umbilical hernia; no cardiac abnormality (-HP:0001627); no kidney abnormality (-HP:0000077); no agenesis corpus callosum (-HP:0001274); 3 1 Gijs Santen
00001558 - - - M - - - - - - - CSS brith 41w, weight SD 0.2, OFC 36 cm; high narrow palate, two café au lait spots (2x1 cm) on trunk; generalized hypotonia; birth feeding problems; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; attention span short;hyperactivity; sparse scalp hair (HP:0002209); normal eyebrow (-HP:0000534); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463), thick alae (HP:0009928); long philtrum (HP:0000343); no 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); pectus excavatum (HP:0000767); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), no prominent distal phalange;; no intestinal anomalies (-HP:0002242); ventricular septal defect; no kidney abnormality (-HP:0000077); 1 1 Gijs Santen
00047881 - - - - - - - - - - - cancer, breast - 1 1 Sian Jones
00047882 - - - - - - - - - - - cancer, breast - 1 1 Sian Jones
00047883 - - - - - - - - - - - cancer, breast - 1 1 Sian Jones
00047884 - - - - - - - - - - - cancer, breast - 1 1 Sian Jones
00047885 - - - - - - - - - - - CRC - 2 1 Sian Jones
00047886 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047887 - - - - - - - - - - - CRC - 2 1 Sian Jones
00047888 - - - - - - - - - - - CRC - 2 1 Sian Jones
00047889 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047890 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047891 - - - - - - - - - - - CRC - 2 1 Sian Jones
00047892 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047893 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047894 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047895 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047896 - - - - - - - - - - - CRC - 1 1 Sian Jones
00047897 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047898 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047899 - - - - - - - - - - - cancer, gastric - 3 1 Sian Jones
00047900 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047901 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047902 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047903 - - - - - - - - - - - cancer, gastric - 2 1 Sian Jones
00047904 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047905 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047906 - - - - - - - - - - - cancer, gastric - 1 1 Sian Jones
00047907 - - - - - - - - - - - cancer, lung - 1 1 Sian Jones
00047908 - - - - - - - - - - - cancer, lung - 1 1 Sian Jones
00047909 - - - - - - - - - - - MDB - 1 1 Sian Jones
00047910 - - - - - - - - - - - MDB - 1 1 Sian Jones
00047911 - - - - - - - - - - - MDB - 1 1 Sian Jones
00047912 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047913 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047914 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047915 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047916 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047917 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047918 - - - - - - - - - - - cancer, pancreatic - 2 1 Sian Jones
00047919 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047920 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047921 - - - - - - - - - - - cancer, pancreatic - 1 1 Sian Jones
00047922 - - - - - - - - - - - cancer, prostate - 2 1 Sian Jones
00047923 - - - - - - - - - - - cancer, prostate - 1 1 Sian Jones
00047924 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047925 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047926 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047927 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047928 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047929 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047930 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047931 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047932 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047933 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047934 - - - - - - - - - - - cancer, ovarian - 4 1 Sian Jones
00047935 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047936 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047937 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047938 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047939 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047940 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047941 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047942 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047943 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047944 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047945 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047946 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047947 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047948 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047949 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047950 - - - - - - - - - - - cancer, ovarian - 2 1 Sian Jones
00047951 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047952 - - - - - - - - - - - cancer, ovarian - 1 1 Sian Jones
00047960 - PubMed: Tsurusaki 2012 - - - - - - - - - CSS - 1 1 Global Variome, with Curator vacancy
00047961 - PubMed: Tsurusaki 2012 - - - - - - - - - CSS - 1 1 Global Variome, with Curator vacancy
00047962 - PubMed: Tsurusaki 2012 - - - - - - - - - CSS - 1 1 Global Variome, with Curator vacancy
00048043 - PubMed: Tsurusaki 2014 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048044 - PubMed: Tsurusaki 2014 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048045 - PubMed: Tsurusaki 2014 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048046 - PubMed: Wieczorek 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048055 - PubMed: Santen 2013 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048056 - PubMed: Santen 2013 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048058 - PubMed: Santen 2013 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048059 - PubMed: Santen 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00050468 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - ? joint hypermobility, hyperacusis, short 2nd toe, astigmatism, hypotelorism, strabismus, delayed speech and language development, autism 1 2 Johan den Dunnen
00050599 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? postnatal microcephaly, specific learning disability, hypoplastic iris stroma, low hanging columella 1 1 Johan den Dunnen
00183684 27620904-Pat29 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00276036 - - - F - - - - - - - ? Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Cleft palate (HP:0000175); Hypertelorism (HP:0000316) 1 1 IMGAG
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.