Disease #00524 (Apert (Apert syndrome), OMIM:101200)

Official abbreviation Apert
Name Apert syndrome
OMIM ID 101200
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene FGFR2
Associated tissues -
Disease features -
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00019797 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Apert - - - 0 1 Karen E. Heath
00019798 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no - - - 0 - - Apert - FGFR2 FGFR2 1 1 Karen E. Heath
00019799 - PubMed: Paumard-Hernandez 2015, Journal: Paumard-Hernandez 2015 - F no Spain - - 0 - - Apert - FGFR2 FGFR2 1 1 Karen E. Heath
00181106 - - - M ? Sri Lanka - - 0 - - Apert Corpus callosum agenesis, small brain, mesocardia, syndactylies on hand and feet FGFR2 FGFR2 1 1 Isabel Filges
00334952 - - - M no Saudi Arabia - - - - - Apert - FGFR2 FGFR2 1 1 Malak Alghamdi
00334954 - - - M no Saudi Arabia - - - - - Apert - FGFR2 FGFR2 1 1 Malak Alghamdi
00334955 - - - F yes Saudi Arabia - - - - - Apert - FGFR2 FGFR2 1 1 Malak Alghamdi
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