Disease #00529 (SCS (Saethre-Chotzen syndrome, with/without eyelid anomalies (SCS)), OMIM:101400)

Official abbreviation SCS
Name Saethre-Chotzen syndrome, with/without eyelid anomalies (SCS)
OMIM ID 101400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 13
Phenotype entries for this disease 11
Associated with 2 genes FGFR2, TWIST1
Associated tissues -
Disease features autosomal dominant
Remarks -


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00017822 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M - Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00017823 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F - Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00017824 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00017838 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00019812 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00019813 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00019814 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00019815 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - M no Spain - - 0 - - SCS - TWIST1 TWIST1 1 1 Karen E. Heath
00164523 Family 1 - - M no United Kingdom (Great Britain) - - 0 - - SCS - TWIST1 TWIST1 1 3 Stephen Twigg
00164524 Family 2 - - F no United Kingdom (Great Britain) white - 0 - - SCS - TWIST1 TWIST1 1 1 Stephen Twigg
00334948 - - - M yes Saudi Arabia - - - - - SCS - TWIST1 TWIST1 1 1 Malak Alghamdi
00334957 - - - M yes Saudi Arabia - - - - - SCS - TWIST1 TWIST1 1 1 Malak Alghamdi
00335044 - - - M no Saudi Arabia - - - - - SCS - TWIST1 TWIST1 1 1 Malak Alghamdi
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