All individuals with variants in gene CDKN1C

72 entries on 1 page. Showing entries 1 - 72.
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00016430 24065356-FamPatIV1 PubMed: Brioude 2013 4-generation family, 9 affecteds (9F), patient IV1 F - France - - 0 - growth hormone therapy SRS;RSS - 1 9 Eamonn Maher
00016433 - PubMed: Hamajima 2013 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); inruterine growth retardation (HP:0001511); genitourinary abnormalities (HP:0000078); abnormality nose (HP:0000366); frontal bossing (HP:0002007); cryptorchidism 1 1 Eamonn Maher
00016434 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE possible hypercalciuria (HP:0002150), adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003025; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism 1 1 Eamonn Maher
00016435 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); no short limbs (-HP:0006385); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003026; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); no short arms (-HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism 1 1 Eamonn Maher
00016436 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE possible adrenal hypoplasia, adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003027; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); osteopenia (HP:0000938); cryptorchidism 1 1 Eamonn Maher
00016437 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003028; abnormality nose (HP:0000366); frontal bossing (HP:0002007); small epiphyses (HP:0010585); no craniosynostosis (-HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); cryptorchidism 1 1 Eamonn Maher
00016438 - PubMed: Arboleda 2012 - - ? ? (unknown) ? - - - - IMAGE adrenal crisis; ear abnormality (HP:0000598); delayed bone age (HP:0003799); inruterine growth retardation (HP:0001511); short limbs (HP:0006385); hypercalciuria (HP:0002150); genitourinary abnormalities (HP:0000078); striated irregular metaphyses (HP:0003029; abnormality nose (HP:0000366); frontal bossing (HP:0002007); no small epiphyses (-HP:0010585); craniosynostosis (HP:0001363); short arms (HP:0009824); adrenal hypoplasia (HP:0000835); osteopenia (HP:0000938); cryptorchidism 1 1 Eamonn Maher
00016439 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); 1 1 Eamonn Maher
00016440 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); 1 1 Eamonn Maher
00016441 - PubMed: Engel 2000 - - ? ? (unknown) ? - 0 - - BWS - 1 1 Eamonn Maher
00016442 - PubMed: Lee 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); tumor 1 1 Eamonn Maher
00016443 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016444 - PubMed: Hatada 1996 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016445 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no tumor 1 1 Eamonn Maher
00016446 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor 1 1 Eamonn Maher
00016447 - PubMed: O’Keefe 1997 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016448 - PubMed: Welsh 2011 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); 1 1 Eamonn Maher
00016449 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016450 - PubMed: Romanelli 2009 - - ? ? (unknown) ? - 0 - - BWS ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; 1 1 Eamonn Maher
00016451 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; no ear abnormality (-HP:0000598); no cleft palate (-HP:0000175); no macrosomia (-HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); no naevus flammeus (-HP:0010733); tumor 1 1 Eamonn Maher
00016452 - PubMed: Hatada 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016453 - PubMed: Engel 2000 - - ? ? (unknown) ? - 0 - - BWS - 1 1 Eamonn Maher
00016454 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no naevus flammeus (-HP:0010733); no tumor 1 1 Eamonn Maher
00016455 - PubMed: Lee 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016456 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; no abdominal wall defect (-HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016457 - PubMed: Kantaputra 2012 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; 1 1 Eamonn Maher
00016458 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS no ear abnormality (-HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); 1 1 Eamonn Maher
00016459 - Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); no cleft palate (-HP:0000175); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016460 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016461 - PubMed: Li 2001, Journal: Yatsuki 2013 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); cleft palate (HP:0000175); macrosomia (HP:0001520); no macroglossia (-HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016462 - PubMed: Hatada 1997 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016463 - PubMed: Eggermann 2014 - - ? ? (unknown) ? - - - - BWS - 1 1 Eamonn Maher
00016464 - PubMed: Li 2001 - - ? ? (unknown) ? - - - - BWS abnormal karyotype; ear abnormality (HP:0000598); normal kidney (-HP:0000077); no macrosomia (-HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016465 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016466 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS no ear abnormality (-HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); 1 1 Eamonn Maher
00016467 - PubMed: Hatada 1996 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016468 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); no organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; no tumor 1 1 Eamonn Maher
00016469 - PubMed: Lam 1999, PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no heart abnormality (-HP:0001627); 1 1 Eamonn Maher
00016470 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); macrosomia (HP:0001520); macroglossia (HP:0000158); organomegaly; abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); heart abnormality (HP:0001627); naevus flammeus (HP:0010733) ; 1 1 Eamonn Maher
00016471 - PubMed: Romanelli 2010 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); abnormal kidney (HP:0000077); macrosomia (HP:0001520); macroglossia (HP:0000158); abdominal wall defect (HP:0010866); no hypoglycemia (-HP:0001943); no heart abnormality (-HP:0001627); naevus flammeus (HP:0010733) ; 1 1 Eamonn Maher
00016472 - PubMed: Lam 1999 - - ? ? (unknown) ? - - - - BWS ear abnormality (HP:0000598); normal kidney (-HP:0000077); macrosomia (HP:0001520); no macroglossia (-HP:0000158); organomegaly; abdominal wall defect (HP:0010866); hypoglycemia (HP:0001943); no hemihypertrophy (-HP:0001528); no heart abnormality (-HP:0001627); no tumor 1 1 Eamonn Maher
00016473 - PubMed: Percesepe 2008 mother (38y) referred for prenatal counselling due to diagnosis of recurrent omphalocele at 14w pregnancy; 20w therapeutical abortion 2y previously (ultrasonographic diagnosis massive omphalocele (6 cm diameter)); 3 earlier spontaneous abortions, all 6w pregnancy, healthy 5y son M no Italy - - 0 - - BWS see paper; ..., normal karyotype; placental mesenchymal dysplasia; ear abnormality (HP:0000598); macroglossia (HP:0000158); organomegaly; no hypoglycemia (-HP:0001943); naevus flammeus (HP:0010733) ; 1 1 Johan den Dunnen
00016474 - PubMed: Aleck 1989, PubMed: Lew 2004 4-generation family, 5 affecteds (2F, 3M), 4 unaffected carriers (4F) M no Canada - - 0 - - BWS all affecteds inherited variant allele maternally; 3 1 Johan den Dunnen
00016475 - PubMed: Tokino - - - Japan - - 0 - - Healthy/Control - 1 23 Johan den Dunnen
00016476 - - 2 cases - - Japan - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00016477 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00016478 - - - - - Japan - - 0 - - Healthy/Control - 1 1 Johan den Dunnen
00017598 - PubMed: Casey 2014 4-generation family, 2 affecteds (brothers), unaffected heterozygous carrier parents and 4 relatives M yes Ireland Irish Traveller - 0 - - CILD see paper 1 2 Johan den Dunnen
00029770 - - - - - Italy - - 0 - - - - 1 2 Silvia Russo
00029837 - - - - no Italy - - 0 - - BWS - 1 1 Silvia Russo
00029838 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00029840 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00032383 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00032384 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00032385 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00032386 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00032387 - Russo, unpublished - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00032395 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00032396 - - - - - Italy - - 0 - - BWS - 1 1 Silvia Russo
00035163 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035164 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00080083 23225375-Pat PubMed: Hu 2013, PubMed: Fokstuen 2013, for EUCID-SRS consortium mother has balanced complex translocation F - - - - 0 - - ?, SRS;RSS - 1 1 Zeynep Tümer
00080084 18798325-Pat2 PubMed: South 2008, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - 1 1 Zeynep Tümer
00080085 19735747-PatAII3 PubMed: Bliek 2009, PubMed: Begemann 2012, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium - F - - - - 0 - - SRS;RSS - 1 1 Zeynep Tümer
00117203 24065356-FamPatIII6 PubMed: Brioude 2013, for EUCID-SRS consortium - F - France - - 0 - - SRS;RSS - 1 1 Zeynep Tümer
00117204 24065356-FamPatIII4 PubMed: Brioude 2013, for EUCID-SRS consortium - F - France - - 0 - - SRS;RSS - 1 1 Zeynep Tümer
00117205 24065356-FamPatII1 PubMed: Brioude 2013, for EUCID-SRS consortium - F - France - - 0 - - SRS;RSS - 1 1 Zeynep Tümer
00266479 - - - - - Argentina Argentina - 0 - - cancer posterior fossa hemangioblastoma; no family history 1 1 Maximiliano Zeballos
00276033 - - - M - - - - 0 - - ? Short stature (HP:0004322); Macrocephaly (HP:0000256); Prominent forehead (HP:0011220); Cryptorchidism (HP:0000028) 1 1 IMGAG
00290376 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 7 Mohammed Faruq
00316140 K2 PubMed: Heidet 2017 - - - France - - 0 - - CAKUT renal hypoplasia; hypospadias , polydactyly 1 1 Johan den Dunnen
00399727 patient PubMed: Berland 2022 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Norway - - 0 - - NDD see paper; ..., 19wg omphalocele 1 1 Johan den Dunnen
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