All individuals with variants in gene SMARCB1

347 entries on 4 pages. Showing entries 1 - 100.
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00001503 - - - M - - - - - - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LCCS1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B brith a term, weight SD 0.5; inguinal hernia bilateral, 3 hypomelanitic maculae.; no hypotonia; birth feeding problems; eczema (HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); moderate speech delay (HP:0000750); moderate intellectual disability; normal scalp hair (-HP:0100037); normal eyebrow (-HP:0000534); normal eylashes (-HP:0000499); delayed gross motor skills (HP:0002194), delayed fine motor skills (HP:0010862); abnormal lacrimal duct (HP:0011481); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); normal nasal bridge (-HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322); 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); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); small nails 5th only;; ;; inguinal hernia; ventricular septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); inguinal hernia (HP:0000023); 2 1 Gijs Santen
00001504 - - - F - - - - - - - CSS brith 34w+1, weight SD -1.8, OFC 27.3 cm; afwijkend ribskelet (vertaling), bifid xyphoid, hypoplastic midface, coarse facial features, low hairlines, horseshoe kidney; seizures onset 5y, low frequency; spherophakia, optic pits, alacrimia, myopia severe -9D (HP:0011003); no hypotonia; birth feeding problems ongoing; multifocal seizures (HP:0031165); abnormal vision (HP:0000504); hearing loss (HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; 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); abnormality nasal bridge (HP:0000422), 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 pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); small nails 5th only; markedly delayed bone age (HP:0003799), no prominent interphalangeal joints (-HP:0006237); no cone shaped epiphyses (-HP:0010579), hypoplastic phalanges fingers/toes; pyloric hypertrophy; dextrocardia; kidney abnormality (HP:0000077); corpus callosum agenesis partial (HP:0001388), dysgenesis corpus callosum; severe myopia (HP:0011003); 2 1 Gijs Santen
00001511 - - - F - - - - - - - CSS brith 37w, weight SD -2.5, OFC SD; haemangioma (in sacral area); death from seizures, status epilepticus; myopia severe -10D (HP:0011003); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); seizures (HP:0001250); delayed growth (HP:00001510); 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); 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); cleft palate (HP:0000175); ear abnormality (HP:0000598), ear tags (HP:0000384); hypertrichosis (HP:0000998); no wrinkling skin (-HP:0007392); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); small patella (HP:0003065); brachydactyly (HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges;; joint laxity (HP:0001388); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum; myopia (HP:0000545); 3 1 Gijs Santen
00001514 - - - F - - - - - - - CSS brith 40w, weight SD 0.5, OFC SD 0; camptodactyly 5th fingers & 2nd-3rd toes, fan-shaped toes arrangement, sandal gap, short 5th metatarsal, - ,fan-shaped toes arrangement, + (very wide), +; social unripeness; 20y-Ca colli uteri (clear cell adenocarcionoma); generalized hypotonia; birth feeding problems 3y; no eczema (-HP:0000964); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); borderline intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal gross motor skills (-HP:0002194); 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), 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); wrinkling skin (HP:0007392); scoliosis (HP:0002650); pectus excavatum (HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); multiple small nails; prominent interphalangeal joints (HP:0006237), prominent distal phalanges; 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); corpus callosum agenesis partial (HP:0001388), colpocephaly (HP:0030048), partial agenesis corpus callosum; 1 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
00001522 - - - M - - - - - - - CSS brith 37w, weight SD 1, OFC 54 cm; Light skin, inquinal hernia (on right side), Umbilical hernia, Pes planus, Short neck; myopia -2.5D (HP:0000545); hypotonia; <6m-feeding problems brief; eczema (HP:0000964); no cutis marmorata (-HP:0000965); abnormal EEG (HP:0002353); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); moderate intellectual disability; asocial, troubles in contacts with his peers, aggression; sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194); normal lacrimal duct (-HP:0011481); no ptosis (-HP:0000520); no choanal stenosis (-HP:0000452); abnormality nasal bridge (HP:0000422), no anteverted nares (-HP:0000463); short philtrum (HP:0000322), 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); scoliosis (HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); brachydactyly (HP:000156); no absent 5th distal phalanx; no small nails (-HP:0001792); no delayed bone age (-HP:0003799), prominent interphalangeal joints (HP:0006237), prominent distal phalanges, 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); agenesis corpus callosum (HP:0001274); myopia (HP:0000545); 2 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
00001529 - - - M - - - - - - - CSS brith 38w, weight SD -3, microcephaly; neonatal breathing diffiuclites, gastroesophageal reflux, fundoplication, chronic lung disease and bronchiectasis and lots of respiratory secretions, with secondary pulmonary hypertension, Oxygen dependent,Cryporchidism,Pubic hair since age 6y,Nasal obstruction, bilateral coax vara, no crying, dry fragile skin in infancy, asthma/hayfever, gynaecomastia, brachycephaly, thick guns, small down-slanting palpebral fissures, small chin, prominent fetal finger pads when younger, optic nerve hypoplasia; seizures onset 10y; anisometropic amblyopia, nr optic nerve hypoplasia (too unwell to be investigated); generalized hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); seizures (HP:0001250); delayed growth (HP:00001510); no hearing loss (-HP:0000365); severe speech delay (HP:0000750); severe intellectual disability; 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); ptosis (HP:0000520); no choanal stenosis (-HP:0000452); flat (depressed/low) nasal bridge (HP:0005280), anteverted nares (HP:0000463), thick alae (HP:0009928); 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); no pectus excavatum (-HP:0000767); no brachydactyly (-HP:000156); multiple small nails; no prominent interphalangeal joints (-HP:0006237) , prominent distal phalanges; hypoplastic phalanges fingers/toes; joint laxity (HP:0001388); pyloric stenosis and inguinal hernia; dextrocardia; no kidney abnormality (-HP:0000077); delayed permanent teeth (HP:0000696); recurrent infections (HP:0002719); corpus callosum hypoplasia (HP:0002079), partial agenesis corpus callosum; pyloric stenosis (HP:0002021); inguinal hernia (HP:0000023); myopia (HP:0000545); 2 1 Gijs Santen
00001532 - - - F - - - - - - - CSS brith 40w+5, weight SD -1; hypopigmented patch, triangular face, pointed chin, mild knee contractures, broad thumbs/halluces, squared off fingers/toes, tight Achilles, excitable, short concentration; normal vision; no hypotonia; birth feeding problems ongoing; no eczema (-HP:0000964); no vascular skin abnormality (-HP:0011276); febrile seizures (HP:0002373); delayed growth (HP:00001510); no hearing loss (-HP:0000365); glue ear; severe speech delay (HP:0000750); severe intellectual disability; hyperactivity (HP:0000752); sparse scalp hair (HP:0002209); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); normal 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), no anteverted nares (-HP:0000463), thick alae (HP:0009928); 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); no scoliosis (-HP:0002650); no pectus excavatum (-HP:0000767); no dislocated elbows (-HP:0003042); no brachydactyly (-HP:000156); no small nails (-HP:0001792); accelerated bone age (HP:0002805), no 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); no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); recurrent infections (HP:0002719); MRI brain normal, no agenesis corpus callosum (-HP:0001274); 2 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; 1 1 Gijs Santen
00001539 - - - M - - - - - - - CSS brith 38w, weight SD -1; Slightly coarse. Puffy under eyes. Mother has optic disc coloboma and nystagmus (but no DD,LD or other health problems )so eye signs likely unrelated, 1st tooth at 1y; MRI-brain Normal (mega cisterna magna); Right optic disc coloboma and nystagmus(similar to mother); birth feeding problems; no seizures (-HP:0001250); undescended testes; severe speech delay (HP:0000750); moderate-severe intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); normal philtrum (-HP:0000288); no pectus excavatum (-HP:0000767); brachydactyly (HP:000156);;; no intestinal anomalies (-HP:0002242); atrial septal defect; no kidney abnormality (-HP:0000077); no recurrent infections (-HP:0002719); no agenesis corpus callosum (-HP:0001274); coloboma (HP:0000589); 1 1 Gijs Santen
00001541 - - - F - - - - - - - CSS brith 42w, weight SD -3; Tracheomalacia in infancy; birth feeding problems; no seizures (-HP:0001250); mild speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); anteverted nares (HP:0000463); long philtrum (HP:0000343), wide philtrum (HP:0000289); no pectus excavatum (-HP:0000767); no small patella (-HP:0003065); brachydactyly (HP:000156); no delayed bone age (-HP:0003799); no cone shaped epiphyses (-HP:0010579), no hypoplastic phalanges fingers/toes; 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); 1 1 Gijs Santen
00001542 - - - F - - - - - - - CSS brith 42w, weight SD -1.2; myopia -4.5D (HP:0000545); hypotonia; birth feeding problems; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); delayed growth (HP:00001510); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild-moderate speech delay (HP:0000750); moderate intellectual disability; normal behaviour (-HP:0000708); 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); 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); 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); brachydactyly (HP:000156); no absent 5th distal phalanx; small nails 5th only; no delayed bone age (-HP:0003799), no prominent interphalangeal joints (-HP:0006237) , no prominent distal phalange, 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); recurrent infections (HP:0002719); no agenesis corpus callosum (-HP:0001274); myopia (HP:0000545); 1 1 Gijs Santen
00001546 - - - F - - - - - - - CSS brith 38w, weight SD -0.3, OFC 34 cm; myopia severe -11D (HP:0011003); hypotonia; birth feeding problems brief; no eczema (-HP:0000964); no cutis marmorata (-HP:0000965); no seizures (-HP:0001250); no growth abnormality (-HP:0001507); abnormal vision (HP:0000504); no hearing loss (-HP:0000365); mild speech delay (HP:0000750); moderate intellectual disability; hypersociablility; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); delayed gross motor skills (HP:0002194), normal fine motor skills (-HP:0010862); abnormal 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), 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); small patella (HP:0003065); hypoplastic 5th distal phalanx; small nails 5th only;; ; hypoplastic phalanges fingers/toes; partial agenesis corpus callosum; severe myopia (HP:0011003); 2 1 Gijs Santen
00037154 - - - - - Germany - - 0 - - ? hereditary tumour syndrome, Ependymome, neurilemma tumour 1 1 Andreas Laner
00037155 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037156 - - - - - Germany - - 0 - - ? hereditary tumour syndrome, Ependymome, neurilemma tumour 1 1 Andreas Laner
00037157 - - - - - Germany - - 0 - - ? hereditary tumour syndrome, Ependymome, neurilemma tumour 1 1 Andreas Laner
00037158 - - - - - Germany - - 0 - - ? suspected Schwannomatosis, multiple Meningeome 1 1 Andreas Laner
00047313 - PubMed: Santen et al 2013 - F no United Kingdom (Great Britain) Caucasian - 0 - - CSS - 1 1 Gijs Santen
00048017 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Global Variome, with Curator vacancy
00048018 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Global Variome, with Curator vacancy
00048019 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Global Variome, with Curator vacancy
00048020 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Global Variome, with Curator vacancy
00048023 - PubMed: Tsurusaki 2014 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048024 - PubMed: Tsurusaki 2014 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048025 - PubMed: Tsurusaki 2014 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048026 - PubMed: Tsurusaki 2014 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048027 - PubMed: Tsurusaki 2014 - ? - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048028 - PubMed: Tsurusaki 2014 - ? - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048029 - PubMed: Tsurusaki 2014 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048030 - PubMed: Wieczorek 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048031 - PubMed: Wieczorek 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048047 - PubMed: Santen 2013 - F - - - - - - - CSS birth height SD -4.8, weight SD 0.7, OFC SD -2.5; spherophakia; no hypotonia; seizures (HP:0001250); hearing abnormality (HP:0000364); no speech (HP:0001344); severe intellectual disability; normal scalp hair (-HP:0100037); thick eyebrow (HP:0000574); long eyelashes (HP:0000527); no ptosis (-HP:0000520); broad nasal bridge (HP:0000431); long philtrum (HP:0000343); no cleft palate (-HP:0000175); hypertrichosis (HP:0000998); small nails (HP:0001792); no prominent interphalangeal joints (-HP:0006237); hypoplastic phalanges 5th finger; no gastro-esophoegal reflux (-HP:0002020); Dex, pulmonary artery stenosis; kidney abnormality (HP:0000077); agenesis corpus callosum (HP:0001274); pyloric stenosis (HP:0002021); myopia (HP:0000545);, see paper; … 1 1 Eline van der Sluijs
00048048 - PubMed: Santen 2013 - F - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00048049 - PubMed: Santen 2013 - M - - - - - - - CSS see paper; … 1 1 Eline van der Sluijs
00050617 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intrauterine growth retardation, global developmental delay, seizures, microcephaly, abnormal facial shape, agenesis of corpus callosum, cerebellar hypoplasia, broad finger, broad toe, abnormality of the fingertips, hypertrichosis, unilateral ptosis, hypothyroidism, persistence of primary teeth, limited shoulder movement, delayed eruption of teeth, short philtrum, wide mouth, thick lower lip vermilion, brachycephaly, brittle scalp hair, slow-growing hair, lumbosacral hirsutism, hyperlordosis, thoracic kyphosis, scoliosis, coarse facial features 1 1 Johan den Dunnen
00104564 Patient 2 Author submited - M no France - 00y21m 0 - - RTPS-1 - 1 1 Julien Masliah-Planchon
00107735 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107736 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107737 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107738 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107739 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107740 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107741 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107742 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107743 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107744 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107745 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107746 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107747 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107748 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107749 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107750 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107751 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107752 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107753 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107754 - - - - - Germany - - 0 - - RTPS-1 - 2 1 Till Holsten
00107755 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107756 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107811 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107812 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107813 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107814 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107815 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107816 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107817 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107818 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107819 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107820 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107821 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107822 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107823 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107824 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107825 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107826 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107827 - - - ? - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107828 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107829 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107830 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00107831 - - - - - Germany - - 0 - - RTPS-1 - 1 1 Till Holsten
00147123 30631761-Pat88_S3 PubMed: Han 2018 - - - Korea - - 0 - - DD developmental delay, no epilepsy, hypotonia 1 1 Joonhong Park
00152023 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00152024 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00152025 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00152027 - PubMed: Tsurusaki 2012 - - - - - - 0 - - CSS - 1 1 Johan den Dunnen
00173920 Family 9 : III1 PubMed: Ammerlaan AC 2008 - M - - - - 0 - - RTPS-1 myoepithelioma (at 26y), further: intracranial meningioma (at 25y) but without INI1-loss, thought to be induced by radiotherapy 1 1 Julia Lopez
00173921 22 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173922 23 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173923 2 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173924 6 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173925 12 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173926 13 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173927 14 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173928 17 PubMed: Bourdeaut F 2011 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173929 02-066 PubMed: Eaton KW 2011 - F - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173930 - PubMed: Kordes 2010 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173931 Family 7 PubMed: Swensen JJ 2009 - F - - - 2y 0 - - RTPS-1 - 1 1 Julia Lopez
00173932 - PubMed: Kordes 2010 - - - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
00173933 09-131 PubMed: Eaton KW 2011 - M - - - - 0 - - RTPS-1 - 1 1 Julia Lopez
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