Disease #00793 (CPI;CPO (cleft palate, isolated (CPI, cleft palate only (CPO))), OMIM:119540)

Official abbreviation CPI;CPO
Name cleft palate, isolated (CPI, cleft palate only (CPO))
OMIM ID 119540
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 2 genes SATB2, UBB
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2017-02-19 14:48:16 +01:00 (CET)


Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00065161 27018475-FamBN-042 PubMed: Mangold 2016, Journal: Mangold 2016 - F - Germany - - - - - CPI;CPO cleft soft palate: (HP:0000185) GRHL3 GRHL3 1 1 Jamie Zeegers
00065162 27018475-FamBN-248 PubMed: Mangold 2016, Journal: Mangold 2016 2-generation family, affected mother/daughter F no Germany - - - - - CPI;CPO both affecteds cleft hard palate (HP:0410005), cleft soft palate (HP:0000185), cleft hard palate (HP:0410005), cleft soft palate (HP:0000185) GRHL3 GRHL3 1 2 Jamie Zeegers
00065164 27018475-FamBN-912 PubMed: Mangold 2016, Journal: Mangold 2016 2-generation family, mother with 2 affected sons and unaffected non-carrier son F;M no Germany - - - - - CPI;CPO cleft soft palate (HP:0000185) GRHL3 GRHL3 1 3 Jamie Zeegers
00065165 27018475-FamBN813Patlll7 PubMed: Mangold 2016, Journal: Mangold 2016 3-generation family, family, affected mother and two daughters (half sisters) F no Germany - - - - - CPI;CPO cleft soft palate (HP:0000185), cleft hard palate (HP:0410005), asymmetrical lower lips with elevations on the left side when opening the mouth (HP:?) GRHL3 GRHL3 1 3 Jamie Zeegers
00065166 27018475-FamBN813Patlll8 PubMed: Mangold 2016, Journal: Mangold 2016 - F - Germany - - - - - CPI;CPO cleft soft palate (HP:0000185), cleft hard palate (HP:0410005), asymmetrical lower lips with elevations on the left side when opening the mouth (HP:?) GRHL3 GRHL3 1 1 Jamie Zeegers
00100417 27018475-FamBN-748 PubMed: Mangold 2016, Journal: Mangold 2016 3-generation family, 1 affected, unaffected heterozygous carrier mother and sibling - - Germany - - - - - CPI;CPO cleft soft palate: (HP:0000185) GRHL3 GRHL3 1 3 Johan den Dunnen
00100418 27018475-FamBN-136 PubMed: Mangold 2016, Journal: Mangold 2016 2-generation family, 1 affected - - Germany - - - - - CPI;CPO cleft soft palate: (HP:0000185) GRHL3 GRHL3 1 1 Johan den Dunnen
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