All individuals with variants in gene RUNX1

21 entries on 1 page. Showing entries 1 - 21.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00050544 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? bifid uvula, submucous cleft hard palate, pectus excavatum, autism with high cognitive abilities 1 1 Johan den Dunnen
00301052 Pat1 PubMed: Braddock 1994, PubMed: Braddock 2016 - F - United States - - - - - ? developmental delay/intellectual disability; growth deficiency; Pierre Robin sequence; thrombocytopenia; megakaryocytes in bone marrow; enamel hypoplasia; large, posteriorly rotated ears; curly hair; no renal malformation; congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum 1 1 Johan den Dunnen
00301053 Pat2 PubMed: Braddock 1994, PubMed: Braddock 2016 - F - United States - - - - - ? developmental delay/intellectual disability; growth deficiency; Pierre Robin sequence; thrombocytopenia; megakaryocytes in bone marrow; enamel hypoplasia; large, posteriorly rotated ears; curly hair; renal malformation; no congenital heart disease; camptodactyly/clinodactyly; agenesis corpus callosum; 4y6m-sparse hair, broad nasal root, U-shaped vermilion upper lip, thickness lower lip, lack of facial expression 1 1 Johan den Dunnen
00301062 patient PubMed: Thevenon 2011 - - - France - - - - - ? see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; no microcephaly; micrognathia, Pierre Robin Sequence; enamel hypoplasia; ear abnormality; congenital heart disease 1 1 Johan den Dunnen
00301063 Pat1 PubMed: Katzaki 2010 - F - Italy - - - - - ? see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; micrognathia, Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; no congenital heart disease 1 1 Johan den Dunnen
00301064 Pat2 PubMed: Katzaki 2010 - M - Italy - - - - - ? see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; no congenital heart disease 1 1 Johan den Dunnen
00301065 Pat3 PubMed: Katzaki 2010 - F - Italy - - - - - ? see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; no ear abnormality; congenital heart disease 1 1 Johan den Dunnen
00301066 Pat1 PubMed: Shinawi 2008 - M - United States white, European - - - - ? see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; enamel hypoplasia; no ear abnormality; congenital heart disease 1 1 Johan den Dunnen
00301067 Pat2 PubMed: Shinawi 2008 - F - Philippines;United States white, European - - - - ? see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; no ear abnormality; no congenital heart disease 1 1 Johan den Dunnen
00301068 Pat3 PubMed: Shinawi 2008 - F - United States white, Hispanic - - - - ? see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; no congenital heart disease 1 1 Johan den Dunnen
00301069 patient PubMed: Byrd 2011 - F - United States - - - - - ? see paper; ...,thrombocytopenia; agenesis corpus callosum; developmental delay; growth deficiency; no microcephaly; micrognathia, Pierre Robin Sequence; enamel hypoplasia; ear abnormality; congenital heart disease 1 1 Johan den Dunnen
00301070 patient PubMed: Fujita 2010 - M - Japan - - - - - ? see paper; ...,no thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; micrognathia, Pierre Robin Sequence; enamel hypoplasia; ear abnormality; no congenital heart disease 1 1 Johan den Dunnen
00301071 patient PubMed: Click 2011 - F - United States - - - - - ? see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; micrognathia, Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; congenital heart disease 1 1 Johan den Dunnen
00301073 patient PubMed: Fukai 2014 - M - Japan - - - - - ? see paper; ...,no thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; ear abnormality; congenital heart disease 1 1 Johan den Dunnen
00301074 patient PubMed: Christensen 2013 - M - United States white - - - - ? see paper; ...,thrombocytopenia; no agenesis corpus callosum; developmental delay; growth deficiency; no microcephaly; no micrognathia, no Pierre Robin Sequence; no enamel hypoplasia; no ear abnormality; no congenital heart disease 1 1 Johan den Dunnen
00433042 Pat9,1 PubMed: Stray-Pedersen 2017 - M - United States Europe - - - - IMD autoimmune disease 1 1 Johan den Dunnen
00433113 Pat91,1 PubMed: Stray-Pedersen 2017 3-generation family, 2 affected cousins, unaffected heterozygous carrier relatives M - Mexico - - - - - IMD neutropenia, congenital heart defect 1 2 Johan den Dunnen
00433114 Pat91,4 PubMed: Stray-Pedersen 2017 cousin M - Mexico - - - - - IMD neutropenia, congenital heart defect 1 1 Johan den Dunnen
00433125 Pat102,1 PubMed: Stray-Pedersen 2017 - M - Norway - - - - - IMD neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia 1 1 Johan den Dunnen
00435464 Pat2 PubMed: Sajan 2019 2-generation family, 1 affected, unaffected heterozygous parents ? - United States - - - - - RLSDF see paper; ..., 2y-weight 10.3 kg (8th), height 77.3 cm (5th), OFC 52.5 cm (>98th), BMI 30 kg/m2 (96th); Rhizomelic short stature most evident in upper extremity, prominent fingertip pads and simian crease left, flattening of dorsal aspect skull indicative of plagiocephaly but otherwise grossly normal; macrocephaly, short neck, micrognathia, mild proptosis, depressed nasal bridge, long smooth philtrum; difficulty gaining weight, receives physical and speech therapies, central hypotonia, bilateral mild conductive hearing loss, laryngomalacia, poplyploid anal mass which had decreased in size, brisk deep tendon reflexesMRI brain <1y-mildly delayed myelination, benign enlargement of subarachnoid spaces of infancy without aqueductal stenosis, craniocervical junction anomalies cervical region of the spine; heart murmur, mildly increased velocity in the suprapulmonic region with no pulmonary valve stenosis, a small patent foramen ovale with left to right shunting, and mild tricuspid regurgitation 1 1 Johan den Dunnen
00443721 MXCCR0745_S17 - - M - Mexico Mexican - - - - cancer, colon - 1 1 Leticia Angélica Barraza Arellano
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.