Disease #00233 (KOS14 (Kagami-Ogata syndrome (KOS14, upd(14)pat, Wang-Kagama-Ogata syndrome)), OMIM:608149)

Official abbreviation KOS14
Name Kagami-Ogata syndrome (KOS14, upd(14)pat, Wang-Kagama-Ogata syndrome)
OMIM ID 608149
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 40
Phenotype entries for this disease 40
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2013-10-09 19:32:37 +02:00 (CEST)
Date last edited 2015-12-08 23:59:30 +01:00 (CET)


Individuals

40 entries on 1 page. Showing entries 1 - 40.
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00011680 - PubMed: Beygo 2014 2-generation family, PatII3 M yes Turkey - - - - - KOS14 see paper; ... MEG3 MEG3 1 2 Thomas Eggermann
00017596 - PubMed: Beygo 2014 2-generation family, patII4 F yes Turkey - - - - - KOS14 see paper; ... MEG3 MEG3 1 1 Thomas Eggermann
00017597 - PubMed: Beygo 2014 2-generation family, 1 affected (pat1) M no - - - - - - KOS14 see paper; ... MEG3, MEG8, RTL1 MEG3, MEG8, RTL1 1 1 Johan den Dunnen
00027193 - PubMed: Kagami 2008 3-generation family, grandfather (I3) and mother (II2) manifest upd(14)mat-like phenotype (mild to moderate short stature); affected brother (III3) F no Japan - 00y09m - - - KOS14 karyotype 46XX; placental weight 429g (143%), vaginal delivery, no medical assisted reproduction, at birth father 34y/mother 31y; current heigth 59.5 cm (SD-2.2), current weight 6.2 kg (SD-2.2); tracheostomy?, 5m mechanical vantialtion, oxygen administration?, respiratory rehabilitation/; tube feeding (rehabilitation eating unknown); sudden death from upper respiratory infection; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 27w gestation, weight 1.30 kg (SD+2.4)kg; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); anteverted nares (HP:0000463); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); no heart abnormality (-HP:0001627); inguinal hernia (HP:0000023); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); - - 1 4 Masayo Kagami
00027213 - PubMed: Kagami 2008, Kagami submitted 3-generation family, carrier mother (II2) F no Japan - - - - - KOS14 karyotype 46XX, age parents at birth father 27y/mother 28y, delivery caesarean section, no medically assisted reproduction; current height 105 cm (SD-1.6), weight 16.8 kg (SD-0.9); mechanical ventialtion (1m), oxygen administration (36m) no respiratory rehabilitation; tube feeding (51m), no rehabilitation for eating; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 30w gestation, weight 1.55 kg (SD+0.9)kg, length 42 cm (SD+1.5); normal growth; frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); head-6m, sit-18m, walk-24m; no contractures (-HP:0001371); coxa valga (HP:0002673); patent ductus arteriosus (HP:0001643); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); - - 1 2 Masayo Kagami
00027215 - PubMed: Kagami 2008, Kagami submitted - F no Japan - 03y10m - - - KOS14 karyotype 46XX, placenta 732g (152%), birth caesarean section, amnioreduction (3x 34-35w), age at birth father 36y/mother 33y; tracheostomy, mechanical ventilation (2m), oxygen administration, respiratory rehabilitation?; tube feeding (45m), rehabilitation for eating?; ulcerative colitis, asthma; died from infection; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 2.94 kg (SD+2.5)kg, length 45 cm (SD-0.1); prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); no blepharophimosis (-HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); normal lips; no micrognathia (-HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; no global developmental delay (-HP:0001263); walk-no; no contractures (-HP:0001371); coxa valga (HP:0002673); no heart abnormality (-HP:0001627); no hernia (-HP:0100790); no seizures (-HP:0001250); no flat nasal bridge (-HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - 1 1 Masayo Kagami
00027217 - PubMed: Kagami 2008 - M no Japan - - - - - KOS14 karyotype 46XY r(14)(p11q32), placental weight 600 g (123%), partial abruption placenta, vaginal birth, presen length 65.0 cm (SD-3.4), weight 5.7 kg (SD-3.9); periodical mechanical ventialtion; retractile convulsion, microcephaly, high arched palate, undermasculinized genitalia; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 2.44 kg (SD+0.2)kg, length 45.4 cm (SD-0); prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); no anteverted nares (-HP:0000463); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); no heart abnormality (-HP:0001627); no hernia (-HP:0100790); seizures (HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - 1 1 Masayo Kagami
00027218 - PubMed: Kagami 2008, Kagami submitted younger brother of FamAIII1 M no Japan - - - - - KOS14 karyotype 46XY, birth caesarean section, placenta 642g (163%), amnioreduction (5x 27-30w), at birth father 39y/mother 36y; present height 112 cm (SD-3.3), present weight 21.4 kg (SD-1.3); no tracheostomy, mechanical ventilation (10m), oxygen administration (103m), respiratory rehabilitation?; tube feeding (89m), rehabilitation for eating; school special class; polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 30w gestation, weight 2.04 kg (SD+2.8)kg; prenatal overgrowth (HP:0003517); overgrowth (HP:0001548); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); sit-27m, walk-90m; contractures (HP:0001371); coxa valga (HP:0002673); no heart abnormality (-HP:0001627); inguinal hernia (HP:0000023); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - 1 1 Masayo Kagami
00027230 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 30w gestation, weight 1.61kg, length 41cm; postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); no anteverted nares (-HP:0000463); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); inguinal hernia (HP:0000023), omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027231 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 3.28kg, length 44cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); no blepharophimosis (-HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); pulmonary artery stenosis (HP:0004415); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027232 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); 37w gestation, weight 2.8kg, length 50cm; normal growth; frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027233 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 2.93kg, length 43.5cm; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027234 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 2.84kg, length 43cm; prenatal overgrowth (HP:0003517); no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027235 - - - M no Japan - 00y00m - - - KOS14 polyhydramnios (HP:0001561); no large placenta (-HP:0006267); birth 34w gestation, weight 3.17kg, length 45.7cm; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); small ears (HP:0008551); anteverted nares (HP:0000463); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); abdominal wall defect (HP:0010866); normal; no contractures (-HP:0001371); atria septal defect (HP:0001631); omphalocele (HP:0001539); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); - - - 1 Masayo Kagami
00027236 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 33w gestation, weight 2.55kg, length ; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); inguinal hernia (HP:0000023), omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027237 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); birth 34w gestation, weight 2.05kg, length 42.5cm; normal growth; frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027238 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 2.92kg, length 48cm; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); no anteverted nares (-HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027239 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); birth 35w gestation, weight 2.67kg, length 51cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027240 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); no large placenta (-HP:0006267); birth 36w gestation, weight 2.85kg, length 46.2cm; postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); coxa valga (HP:0002673); interrupted aortic arch & VSD; no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027241 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 37w gestation, weight 2.7kg, length 48cm; normal growth; frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027242 - - - M no Japan - 03y02m - - - KOS14 no large placenta (-HP:0006267); birth 24w gestation, weight 1.24kg, length 30.6cm; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); patent ductus arteriosus (HP:0001643); inguinal hernia (HP:0000023); no seizures (-HP:0001250); hepatoblastoma (HP:0002884); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027243 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 34w gestation, weight 2.79kg, length 44cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027244 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); 37w gestation, weight 2.8kg, length 44.5cm; normal growth; frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027245 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 32w gestation; normal growth; frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027246 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); birth 33w gestation, weight 2.8kg, length 45cm; prenatal overgrowth (HP:0003517); feeding problems (HP:0011968); constipation (HP:0002019); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); inguinal hernia (HP:0000023); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027247 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 35w gestation, weight 3.14kg, length 45cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); inguinal hernia (HP:0000023); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027248 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 36w gestation, weight 2.94kg, length 46cm; normal growth; no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); no anteverted nares (-HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027250 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 34w gestation, weight 2.50kg, length 47cm; no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027251 - - - M no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 37w gestation, weight 3.1kg, length 49cm; postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027252 - - - F no Japan - 00y08m - - - KOS14 polyhydramnios (HP:0001561); birth 32w gestation, weight 1.85kg, length 45cm; frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); anteverted nares (HP:0000463); no full cheeks (-HP:0000293); micrognathia (HP:0000347); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); abdominal wall defect (HP:0010866); diastasis recti; flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); - - - 1 Masayo Kagami
00027253 - - - F - Japan - 01y05m - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 37w gestation, weight 2.56kg, length 43.5cm; postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); no anteverted nares (-HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); no micrognathia (-HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); no contractures (-HP:0001371); coxa valga (HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); hepatoblastoma (HP:0002884); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027254 - - - F - Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 28w gestation, weight 1.61kg, length 36cm; prenatal overgrowth (HP:0003517); no frontal bossing (-HP:0002007); no frontal hirsutism (-HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); anteverted nares (HP:0000463); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); inguinal hernia (HP:0000023); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027255 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 38w gestation, weight 3.77kg, length 50cm; prenatal overgrowth (HP:0003517); overgrowth (HP:0001548); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); diastasis recti; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); no hernia (-HP:0100790); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027256 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 36w gestation, weight 3.4kg, length 45cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); normal ears (-HP:0000598); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); no contractures (-HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - - 1 Masayo Kagami
00027257 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); birth 37w gestation, weight 3.50kg, length 48.5cm; prenatal overgrowth (HP:0003517); no frontal bossing (-HP:0002007); no frontal hirsutism (-HP:0011335); no blepharophimosis (-HP:0000581); normal ears (-HP:0000598); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00027258 - - - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); birth 32w gestation, weight 2.21kg, length ; prenatal overgrowth (HP:0003517); postnatal growth retardation (HP:0008897); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); feeding problems (HP:0011968); constipation (HP:0002019); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); laryngomalacia (HP:0001601); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); no coxa valga (-HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); kyphoscoliosis (HP:0002751) - - - 1 Masayo Kagami
00028648 - PubMed: Kagami 2010 - F no Japan - - - - - KOS14 polyhydramnios (HP:0001561); large placenta (HP:0006267); birth 33w gestation, weight 2.84kg, length 43cm; prenatal overgrowth (HP:0003517); no frontal bossing (-HP:0002007); frontal hirsutism (HP:0011335); blepharophimosis (HP:0000581); small ears (HP:0008551); feeding problems (HP:0011968); anteverted nares (HP:0000463); full cheeks (HP:0000293); pursed lips (HP:0000205); micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); normal larynx (-HP:0001600); abdominal wall defect (HP:0010866); normal; global developmental delay (HP:0001263); contractures (HP:0001371); coxa valga (HP:0002673); omphalocele (HP:0001539); no seizures (-HP:0001250); flat nasal bridge (HP:0005280); abnormal philtrum (HP:0000288); no scoliosis (-HP:0002650) - - 1 1 Masayo Kagami
00028649 - PubMed: Kagami 2010 - F no Ireland - - - - - KOS14 no polyhydramnios (-HP:0001561); no large placenta (-HP:0006267); birth 28w gestation, weight 1.32kg, length 34cm; prenatal overgrowth (HP:0003517); frontal bossing (HP:0002007); frontal hirsutism (HP:0011335); no blepharophimosis (-HP:0000581); small ears (HP:0008551); no anteverted nares (-HP:0000463); no full cheeks (-HP:0000293); normal lips; micrognathia (HP:0000347); webbed neck (HP:0000465); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); abdominal wall defect (HP:0010866); normal; no contractures (-HP:0001371); no coxa valga (-HP:0002673); patent ductus arteriosus (HP:0001643); omphalocele (HP:0001539); no seizures (-HP:0001250); no flat nasal bridge (-HP:0005280); normal philtrum (-HP:0000288); no scoliosis (-HP:0002650) MEG3 MEG3 1 1 Masayo Kagami
00064622 - - - M no Germany - - - - - KOS14 polyhydramnios (HP:0001561); birth weight 2300 gkg, length 45 cm; short neck (HP:0000470); bell-shaped thorax (HP:0001591); coat hanger sign ribs (HP:0006665); mild intellectual disability (HP:0001256); - - 1 2 Karin Buiting
00403691 family PubMed: Sabria-Back 2022 child - - Spain - 00y00m74d - - - KOS14 see papr; ..., 74d-deceased respiratory and infectious complications; prenatal omphalocele, severe polyhydramnios; 26w gestation amniodrainage required to avoid premature delivery, uterine contractions, cervical shortening; placental abruption requiring emergency Caesarean section; birth weight 760g; after birth silo applied to contain omphalocele, 4d-surgical correction completed; 0d-macroglossia,large philtrum, hypersialorrhea, bell-shaped thorax, coat-hanger ribs - DLK1, MEG3 1 1 Johan den Dunnen
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