All individuals with variants in gene SMO

26 entries on 1 page. Showing entries 1 - 26.
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     
00000107 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00050581 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum 1 1 Johan den Dunnen
00100324 - PubMed: Twigg 2016, Journal: Twigg 2016 - F - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00100325 - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00100326 - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00100327 - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00100328 - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00100329 - PubMed: Twigg 2016, Journal: Twigg 2016 - M - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00100330 - PubMed: Twigg 2016, Journal: Twigg 2016 - F - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00100331 - PubMed: Twigg 2016, Journal: Twigg 2016 - F - - - - - - - CRJS see paper; ..., 1 1 Johan den Dunnen
00264056 #10 - - M no Brazil - 31y - - - OSTEOSARCOMA 18y-osteosarcoma; negative for TP53 mutations; paternal aunt with breast cancer at 42y (Chompret criteria for Li-Fraumeni syndrome) 1 1 Raissa Andrade
00288204 Pat14 PubMed: Lee 2019 - - - United States - - - - - ? hyperpigmentation, hypopigmentation, hypertrichosis, linear hyperpigmentation, hypomelanotic macule, hypomelanosis of Ito, papilloma, blue nevus, polydactyly, hamartoma, dysmorphic features, vulvar hair growth 1 1 Johan den Dunnen
00294326 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 246 Mohammed Faruq
00294327 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294328 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00296442 Fam1PatII1 (P1) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France - 03y - - - PAP see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; no microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; no syndactyly; no cardiac defect; Hirschsprung disease 2 1 Sophie Thomas
00302557 Fam2PatII1 (P2) PubMed: Le 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - - - - - - - PAP see paper; ..., normal psychomotor development; gelastic epilepsy; hypothalamic hamartoma; microcephaly; dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 5/6 syndactyly; no cardiac defect; no Hirschsprung disease 2 2 Sophie Thomas
00302559 Fam3PatII1 (P4) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes France - - - - - PAP see paper; ..., mild psychomotor development delay; no gelastic epilepsy; no hypothalamic hamartoma; no microcephaly; dysmorphic facial features; chest and rib abnormalities; postaxial polydactyly; 5/6 syndactyly; no cardiac defect; no Hirschsprung disease 1 1 Sophie Thomas
00302560 Fam4PatII4 (P5) PubMed: Le 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - PAP see paper; ..., normal psychomotor development; no gelastic epilepsy; no hypothalamic hamartoma; no microcephaly; no dysmorphic facial features; moderate chest and rib abnormalities; postaxial polydactyly; no syndactyly; cardiac defect; no Hirschsprung disease 2 1 Sophie Thomas
00302562 Fam5PatII3 (P7) PubMed: Le 2020 twin F yes France - - - - - PAP see paper; ..., normal psychomotor development; no gelastic epilepsy; no microcephaly; no dysmorphic facial features; no chest and rib abnormalities; postaxial polydactyly; 2/3 syndactyly; cardiac defect; no Hirschsprung disease 1 1 Sophie Thomas
00305132 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 5 Mohammed Faruq
00377156 I-1 - 2-generation family, 2 affected, unaffected heterozygous carrier parents; father M - - - - - - - Healthy/Control - 1 4 Michael Hildebrand
00377157 I-2 - mother F - - - - - - - Healthy/Control - 1 1 Michael Hildebrand
00377158 II-1 - son M - - - - - - - PHS - 2 1 Michael Hildebrand
00377159 II-2 - daughter F - - - - - - - PHS - 2 1 Michael Hildebrand
00396724 T1094 - - M - - - - - - - hamartoma - 2 1 Michael Hildebrand
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.