All individuals with variants in gene SATB2

143 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 1 1 Global Variome, with Curator vacancy
00000029 - PubMed: Almomani 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00019888 - PubMed: Gilissen 2014 - ? ? - - - - - - ID moderate-severe ID, primary macrocephaly, hearing loss due to otitis media. Strabismus. Autism, ADHD. Frontal bossing, deep-set eyes. Four teeth at 11 months of age. 1 1 Marianne Vos (LOVD-team)
00050432 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? specific learning disability, delayed speech and language development, cleft palate, chin dimple, clinodactyly of the 5th finger, thin lips, broad thumb 1 1 Johan den Dunnen
00050482 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? long face, frontal bossing, abnormality of limb bone morphology, dental crowding, abnormality of the palmar creases, joint hypermobility, pectus excavatum, delayed speech and language development, cleft palate, pes planus 1 1 Johan den Dunnen
00050503 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, absent speech, muscular hypotonia, ligamentous laxity, drooling, exaggerated startle response, deeply set eye, downslanted palpebral fissures, thin lips, smooth philtrum 1 1 Johan den Dunnen
00050517 - PubMed: DDDS 2015, Journal: DDDS 2015 affected, unknown family members M - United Kingdom (Great Britain) - - - Decipher - ? cleft palate, intellectual disability severe, hypotelorism 1 1 Johan den Dunnen
00050584 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? cleft palate, delayed speech and language development, abnormality of the tibia, myopia, joint hypermobility, intellectual disability 1 1 Johan den Dunnen
00050619 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? seizures, delayed speech and language development, frontal bossing, deeply set eye, abnormal hair pattern, strabismus, smooth philtrum 1 1 Johan den Dunnen
00050661 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? short tapered metacarpals, broad thumb, bilateral single transverse palmar creases, strabismus, drooling, ankyloglossia 1 1 Johan den Dunnen
00080915 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - GLASS Glass syndrome (OMIM:612313) 1 1 Daniel Trujillano
00091679 - - Family, 1 affected F no Germany white - - - - GLASS global developmental delay (HP:0001263), absent speech (HP :0001344), dysmorphic facial features (HP:0001999), abnormality of dental morphology (HP:0006482) 1 1 YA Zarate
00091684 - - family, 1 affected M no United States white, hispanic - - - - GLASS global developmental delay (HP:0001263), dysmorphic facial features (HP:0001999), abnormality of dental morphology (HP:0006482) poor speech development (HP:0000750) 1 1 YA Zarate
00091685 - - family, 1 affected M no United States white - - - - GLASS global developmental delay, HP:0001263; cleft palate, HP:0000175; absent speech, HP:0001344; dysmorphic facial features; micrognathia, HP:0000347; abnormality of dental morphology, HP:0006482 1 1 YA Zarate
00091686 - - Family, 1 affected M no Spain white - - - - GLASS - 1 1 YA Zarate
00091687 - - Family, 1 affected M no United Kingdom (Great Britain) white - - - - GLASS global developmental delay (HP:0001263), cleft palate (HP:0000175), absent speech (HP:0001344), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482) 1 1 YA Zarate
00091688 - - Family, 1 affected M no United States white - - - - GLASS global developmental delay (HP:0001263), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482), poor speech development (HP:0000750) 1 1 YA Zarate
00091689 - - 1 affected M no Australia white - - - - GLASS global developmental delay (HP:0001263), absent speech (HP :0001344), dysmorphic facial features (HP:0001999), micrognathia (HP:0000347), abnormality of dental morphology (HP:0006482) poor speech development (HP:0000750) 1 1 YA Zarate
00204582 SATB2-114 - - - - - - - - - - GLASS - 1 1 YA Zarate
00204583 SATB2-121 - - - - - - - - - - - - 1 1 YA Zarate
00204584 SATB2-89 - - - - - - - - - - GLASS Global developmental delay Growth delay Muscular hypotonia 1 1 YA Zarate
00204585 SATB2-83 - - - - - - - - - - GLASS Cleft palate Feeding difficulties Strabismus Dental crowding Sleep disturbance Happy demeanor Aggressive behavior 1 1 YA Zarate
00204586 SATB2-91 - - - - - - - - - - GLASS Global developmental delay Cleft palate Growth delay Feeding difficulties 1 1 YA Zarate
00205391 SATB2-127 - - - - - - - - - - GLASS Global developmental delay Growth delay Feeding difficulties Sleep disturbance Happy demeanor Broad thumb Broad hallux 1 1 YA Zarate
00205392 SATB2-97 - - - - - - - - - - GLASS Global developmental delay Strabismus Sleep disturbance Happy demeanor Muscular hypotonia 1 1 YA Zarate
00205393 SATB2-106 - - - - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor ADHD 1 1 YA Zarate
00205394 SATB2-108 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Oligodontia Happy demeanor Aggressive behavior 1 1 YA Zarate
00205395 SATB2-124 - - - - - - - - - - GLASS Global developmental delay Cleft palate Strabismus Dental Crowding Happy demeanor Smooth Philtrum 1 1 YA Zarate
00205396 SATB2-68 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Seizures Oligodontia Sleep disturbance Muscular hypotonia 1 1 YA Zarate
00205397 SATB2-133 - - - - - - - - - - GLASS Delayed speech Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia 1 1 YA Zarate
00205398 SATB2-131 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Seizures Dental Crowding Osteopenia Happy demeanor ADHD 1 1 YA Zarate
00205422 SATB2-84 - - - - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Growth delay Strabismus Dental Crowding Happy demeanor Sleep disturbance Thin vermillion border 1 1 YA Zarate
00205423 SATB2-122 - - - - - - - - - - GLASS Global developmental delay Seizures Growth delay Strabismus Dental Crowding Happy demeanor Broad thumb Aggressive behavior 1 1 YA Zarate
00205424 SATB2-100 - - - - - - - - - - GLASS Global developmental delay Seizures Strabismus Dental Crowding Oligodontia Osteopenia Happy demeanor 1 1 YA Zarate
00205447 SATB2-132 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia 1 1 YA Zarate
00205448 SATB2-104 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Oligodontia Happy demeanor Sleep disturbance Aggressive behavior 1 1 YA Zarate
00205449 SATB2-110 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth Delay Sleep disturbance Muscular hypotonia 1 1 YA Zarate
00205450 SATB2-112 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Seizures Growth delay Dental Crowding Osteopenia Happy demeanor Muscular hypotonia 1 1 YA Zarate
00205486 SATB2-94 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Seizures Dental Crowding Happy demeanor ADHD 1 1 YA Zarate
00205487 SATB2-129 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Oligodontia Happy demeanor Autism Muscular hypotonia 1 1 YA Zarate
00205488 SATB2-125 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Happy demeanor Thin vermilion border ADHD Muscular hypotonia 1 1 YA Zarate
00205489 SATB2-96 - - - - - - - - - - GLASS Global developmental delay Osteopenia Happy demeanor 1 1 YA Zarate
00205490 SATB2-105 - - - - - - - - - - GLASS Global developmental delay Seizures Strabismus Dental Crowding Happy demeanor Sleep disturbance Muscular hypotonia 1 1 YA Zarate
00205491 SATB2-111 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Growth delay Strabismus Choanal atresia Osteopenia smooth philtrum 1 1 YA Zarate
00205516 SATB2-101 - - - - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Happy demeanor Sleep disturbance Muscular hypotonia Thin vermilion border smooth philtrum 1 1 YA Zarate
00205517 SATB2-109 - - - - - - - - - - GLASS Global developmental delay Seizures Growth delay Dental Crowding Happy demeanor Sleep disturbance ADHD smooth philtrum 1 1 YA Zarate
00205518 SATB2-116 - - - - - - - - - - GLASS Global developmental delay Seizures ADHD Aggressive behavior 1 1 YA Zarate
00205519 SATB2-130 - - - - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor 1 1 YA Zarate
00205545 SATB2-88 - - - - - - - - - - GLASS Delayed speech Feeding difficulties Cleft palate Strabismus Oligodontia taurodontism Smooth philtrum Thin vermilion border 1 1 YA Zarate
00205847 SATB2-90 - - M - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Growth delay Happy demeanor Sleep disturbance Aggressive behavior 1 1 YA Zarate
00205848 SATB2-123 - - M - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Happy demeanor Broad thumb 1 1 YA Zarate
00205849 SATB2-119 - - F - - - - - - - GLASS Global developmental delay Feeding difficulties Strabismus Dental Crowding Oligodontia Happy demeanor Muscular hypotonia Thin vermilion border ADHD 1 1 YA Zarate
00205850 SATB2-98 - - F - - - - - - - GLASS Global developmental delay Seizures Feeding difficulties Strabismus Happy demeanor Sleep disturbance Muscular hypotonia Autism 2 1 YA Zarate
00205851 SATB2-103 - - F - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Dental Crowding Taurodontism Sleep disturbance Muscular hypotonia Flat philtrum 1 1 YA Zarate
00205852 SATB2-120 - - F - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Strabismus Osteopenia Happy demeanor Sleep disturbance Autism 1 1 YA Zarate
00205853 SATB2-81 - - M - - - - - - - GLASS Global developmental delay Cleft palate Feeding difficulties Strabismus Dental Crowding Happy demeanor Muscular hypotonia Aggressive behavior 1 1 YA Zarate
00205854 SATB2-95 - - M - - - - - - - GLASS Global developmental delay Strabismus Happy demeanor Sleep disturbance 1 1 YA Zarate
00207015 29436146-Pat01 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); MRI brain abnormal; walks 21m; speak 1st words 16m 1 1 Johan den Dunnen
00207016 29436146-Pat02 PubMed: Zarate 2018 - F - - - - - - - ? no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 21m; speak 1st words 27m 1 1 Johan den Dunnen
00207017 29436146-Pat03 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); MRI brain abnormal; walks 48m 1 1 Johan den Dunnen
00207018 29436146-Pat04 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); walks 11m; speak 1st words 14m 1 1 Johan den Dunnen
00207019 29436146-Pat05 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); MRI brain normal; walks 22m; speak 1st words 42m 1 1 Johan den Dunnen
00207020 29436146-Pat06 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); MRI brain abnormal; walks 20m 1 1 Johan den Dunnen
00207021 29436146-Pat07 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); MRI brain abnormal; walks 26m; speak 1st words 14m 1 1 Johan den Dunnen
00207022 29436146-Pat08 PubMed: Zarate 2018 - F - - - - - - - ? no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); cleft palate (HP:0000175) 1 1 Johan den Dunnen
00207023 29436146-Pat10 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); 13y slightly low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); ; MRI brain abnormal; walks 22m; speak 1st words 13m 1 1 Johan den Dunnen
00207024 29436146-Pat11 PubMed: Zarate 2018 - F - - - - - - - ? no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 15m 1 1 Johan den Dunnen
00207025 29436146-Pat12 PubMed: Zarate 2018 - M - - - - - - - ? no growth delay (-HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 20m; speak 1st words 10m 1 1 Johan den Dunnen
00207026 29436146-Pat13 PubMed: Zarate 2018 - M - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 24m 1 1 Johan den Dunnen
00207027 29436146-Pat14 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); MRI brain normal; walks 22m 1 1 Johan den Dunnen
00207028 29436146-Pat16 previously published in Zarate [10], listed in PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); 6y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); 1 fracture (HP:0002757); walks 35m 1 1 Johan den Dunnen
00207029 29436146-Pat17 PubMed: Zarate 2018 - M - - - - - - - ? growth delay (HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain normal; walks 18m; speak 1st words 30m 1 1 Johan den Dunnen
00207030 29436146-Pat18 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); MRI brain normal; walks 18m 1 1 Johan den Dunnen
00207031 29436146-Pat19 PubMed: Zarate 2018 - F - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); no sialorrhea (-HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 30m 1 1 Johan den Dunnen
00207032 29436146-Pat20 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); MRI brain normal; walks 24m 1 1 Johan den Dunnen
00207033 29436146-Pat21 PubMed: Zarate 2018 - F - - - - - - - ? growth delay (HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); no cleft palate (-HP:0000175); MRI brain abnormal; walks 17m; speak 1st words 36m 1 1 Johan den Dunnen
00207034 29436146-Pat22 previously published in Zarate [10], listed in PubMed: Zarate 2018 - F - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); 14y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); 3 fractures (HP:0002757); elevated alkaline phosphatase (HP:0003155); MRI brain normal; walks 22m 1 1 Johan den Dunnen
00207035 29436146-Pat23 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); MRI brain abnormal; walks 20m 1 1 Johan den Dunnen
00207036 29436146-Pat24 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); 6y slightly low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); no fractures (-HP:0002757); MRI brain abnormal; walks 14m 1 1 Johan den Dunnen
00207037 29436146-Pat25 PubMed: Zarate 2018 - F - - - - - - - ? growth delay (HP:0001510); no feeding difficulties in infancy (-HP:0008872); sialorrhea (HP:0002307); cleft palate (HP:0000175); walks 23m 1 1 Johan den Dunnen
00207038 29436146-Pat26 PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); MRI brain abnormal; walks 30m; speak 1st words 19m 1 1 Johan den Dunnen
00207039 29436146-Pat27 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); MRI brain normal; walks 60m; speak 1st words 96m 1 1 Johan den Dunnen
00207040 29436146-Pat28 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); MRI brain abnormal; walks 20m 1 1 Johan den Dunnen
00207041 29436146-Pat29 PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); MRI brain normal 1 1 Johan den Dunnen
00207042 29436146-Pat30 PubMed: Zarate 2018 - M - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain abnormal; walks 30m 1 1 Johan den Dunnen
00207043 29436146-Pat31 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? no cleft palate (-HP:0000175); walks 31m; speak 1st words 30m 1 1 Johan den Dunnen
00207044 29436146-Pat32 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); sialorrhea (HP:0002307); no cleft palate (-HP:0000175); MRI brain normal; walks 26m; speak 1st words 18m 1 1 Johan den Dunnen
00207045 29436146-Pat33 previously published in Zarate [10], listed in PubMed: Zarate 2018 - F - - - - - - - ? cleft palate (HP:0000175); 5y low bone mineral density (HP:0004349); no scoliosis (-HP:0002650); no kyphosis (-HP:0002808); no fractures (-HP:0002757); elevated alkaline phosphatase (HP:0003155); MRI brain normal; walks 22m; speak 1st words 18m 1 1 Johan den Dunnen
00207046 29436146-Pat34 PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); MRI brain normal; walks 23m; speak 1st words 60m 1 1 Johan den Dunnen
00207047 29436146-Pat35 previously published in Zarate [10], listed in PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); 4y low bone mineral density (HP:0004349); scoliosis (HP:0002650); no kyphosis (-HP:0002808); multiple fractures (HP:0002757); no elevated alkaline phosphatase (-HP:0003155); MRI brain abnormal; speak 1st words 144m 1 1 Johan den Dunnen
00207048 29436146-Pat36 previously published in Zarate [10], listed in PubMed: Zarate 2018 - F - - - - - - - ? cleft palate (HP:0000175); 14y low bone mineral density (HP:0004349); scoliosis (HP:0002650); multiple fractures (HP:0002757); elevated alkaline phosphatase (HP:0003155); MRI brain normal; walks 36m 1 1 Johan den Dunnen
00207049 29436146-Pat37 PubMed: Zarate 2018 - F - - - - - - - ? no growth delay (-HP:0001510); no feeding difficulties in infancy (-HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain normal; walks 16.5m; speak 1st words 30m 1 1 Johan den Dunnen
00207050 29436146-Pat38 PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); no reduced bone mineral density (-HP:0004349); MRI brain abnormal; walks 16m; speak 1st words 32m 1 1 Johan den Dunnen
00207051 29436146-Pat39 PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); MRI brain abnormal; walks 15m 1 1 Johan den Dunnen
00207052 29436146-Pat40 PubMed: Zarate 2018 - F - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); cleft palate (HP:0000175); walks 12m 1 1 Johan den Dunnen
00207053 29436146-Pat41 PubMed: Zarate 2018 - F - - - - - - - ? no cleft palate (-HP:0000175); MRI brain abnormal; walks 19m; speak 1st words 24m 1 1 Johan den Dunnen
00207054 29436146-Pat42 PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); MRI brain abnormal; walks 15m 1 1 Johan den Dunnen
00207055 29436146-Pat43 PubMed: Zarate 2018 - M - - - - - - - ? cleft palate (HP:0000175); MRI brain normal 1 1 Johan den Dunnen
00207056 29436146-Pat44 PubMed: Zarate 2018 - F - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); no sialorrhea (-HP:0002307); cleft palate (HP:0000175); MRI brain normal; walks 30m; speak 1st words 12m 1 1 Johan den Dunnen
00207057 29436146-Pat45 PubMed: Zarate 2018 - M - - - - - - - ? growth delay (HP:0001510); feeding difficulties in infancy (HP:0008872); cleft palate (HP:0000175) 1 1 Johan den Dunnen
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