Disease #04254

Official abbreviation CLP
Name cleft lip, cleft palate (CLP)
OMIM ID -
Individuals reported having this disease 61
Phenotype entries for this disease 30
Associated with 1 gene CDH1
Associated tissues -
Disease features -
Remarks -


Individuals

61 entries on 1 page. Showing entries 1 - 61.
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00038707 - PubMed: Brito 2015, Journal: Brito 2015 Familial case segregating autosomal dominant cleft lip / palate F no Brazil - - 0 - - CLP Girl affected by nonsyndromic cleft lip / palate. - CDH1 1 1 Maria Rita Passos-Bueno
00038708 - PubMed: Brito 2015, Journal: Brito 2015 Individual from family segregating nonsyndromic cleft lip / palate F no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038709 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 yes - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038710 - PubMed: Brito 2015, Journal: Brito 2015 - F ? Brazil - - 0 yes - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038763 - PubMed: Brito 2015, Journal: Brito 2015 - M - Brazil - - 0 54 - CLP , Familial case of nonsyndromic cleft lip / palate - CDH1 1 1 Maria Rita Passos-Bueno
00038767 - PubMed: Brito 2015, Journal: Brito 2015 - M - Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038768 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038770 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038771 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038772 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038773 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038774 - PubMed: Brito 2015, Journal: Brito 2015 - M - Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038775 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038796 - PubMed: Brito 2015, Journal: Brito 2015 - M ? Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038797 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038798 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 3 1 Maria Rita Passos-Bueno
00038799 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038800 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 3 1 Maria Rita Passos-Bueno
00038801 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038809 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 3 1 Maria Rita Passos-Bueno
00038810 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038811 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038812 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038813 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038814 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038815 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038816 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 2 1 Maria Rita Passos-Bueno
00038817 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038818 - PubMed: Brito 2015, Journal: Brito 2015 - F no - - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038820 - PubMed: Brito 2015, Journal: Brito 2015 - M ? Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038821 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038822 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038823 - PubMed: Brito 2015, Journal: Brito 2015 - F ? Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038824 - PubMed: Brito 2015, Journal: Brito 2015 - F no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00038825 - PubMed: Brito 2015, Journal: Brito 2015 - M no Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00063265 28029220-Fam PubMed: Liu 2016, Journal: Liu 2016 3-generation family, 8 affected (4F, 4M) F;M no Australia European - 0 - - CLP cleft palate only, 3 individual hard & soft ARHGAP29 ARHGAP29 1 8 Azeez Butali
00100386 23008150-Fam PubMed: Leslie 2012, Journal: Leslie 2012 3-generation family, 1 affected, heterozygous unaffected carrier mother/grandfather ? no Philippines - - 0 - - CLP bilateral CLP ARHGAP29 ARHGAP29 1 3 Johan den Dunnen
00100387 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 2-generation family, 1 affected, heterozygous unaffected carrier sibling ? - Philippines - - 0 - - CLP bilateral cleft lip/palate ARHGAP29 ARHGAP29 1 2 Johan den Dunnen
00100391 23008150-Cases PubMed: Leslie 2012, Journal: Leslie 2012 2-generation family, affected father/child ? - Philippines - - 0 - - CLP nonsyndromic cleft lip/palate ARHGAP29 ARHGAP29 1 2 Johan den Dunnen
00106668 - - non Hispanic white and Hispanic families - no United States - - 0 - - CLP Families with individuals with CL and/or CLP. Unaffected family member genotypes present. CASP8 - 0 1 Brett Chiquet
00106669 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - FOS FOS 1 1 Brett Chiquet
00106670 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - MMP2 MMP2 1 1 Brett Chiquet
00106674 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - MMP2 MMP2 1 1 Brett Chiquet
00106675 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - MMP2 MMP2 1 1 Brett Chiquet
00106676 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - MMP2 MMP2 1 1 Brett Chiquet
00106677 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - CASP8 CASP8 1 1 Brett Chiquet
00106678 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - CASP8 CASP8 2 1 Brett Chiquet
00106679 - - non Hispanic white and Hispanic families ? no United States - - 0 - - CLP - CASP8 - 0 1 Brett Chiquet
00107547 - PubMed: Brito 2015, Journal: Brito 2015 - - - Brazil - - 0 - - CLP - CDH1 CDH1 1 1 Maria Rita Passos-Bueno
00208593 IV:3 - Khandelwal et al., manuscript submitted - no Netherlands - - 0 - - CLP minor anomalies in some affected patients in this family: hypodontia, dry skin, duplicated thumb - TP63 1 7 J.H.L.M. (Hans) van Bokhoven
00208594 II.5 - Khandelwal et al., manuscript submitted - no Netherlands - - 0 - - CLP other features in affected family members: hyperkeratosis, hypoplastic nails, choanal atresia, coarse hair - TP63 1 9 J.H.L.M. (Hans) van Bokhoven
00208598 II.2 - Khandelwal et al., manuscript submitted F - Denmark - - 0 - - CLP other features: Lichen sclerosis. - TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00208628 - - Khandelwal et al., manuscript submitted ? no ? (unknown) - - 0 - - CLP - TP63 TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00208629 - - Khandelwal et al., manuscript submitted ? ? ? (unknown) - - 0 - - CLP - TP63 TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00208633 - - Khandelwal et al., manuscript submitted ? ? ? (unknown) - - 0 - - CLP bilateral CLP TP63 TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00208754 - - Khandelwal et al., manuscript submitted ? ? ? (unknown) - - 0 - - CLP unilateral CLP TP63 TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00208769 - - Khandelwal et al. Manuscript submitted ? ? ? (unknown) - - 0 - - CLP Cleft lip, alveolus cleft, split velum and uvula TP63 TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00208770 - - Khandelwal et al., manuscript submitted ? ? ? (unknown) - - 0 - - CLP unilateral cleft lip TP63 TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00208771 - - Khandelwal et al., manuscript submitted ? ? ? (unknown) - - 0 - - CLP cleft lip/palate (CLP) TP63 TP63 1 1 J.H.L.M. (Hans) van Bokhoven
00231412 - Cox, submitted 2019 - - - United States - - 0 - - CLP vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655) GDF11 ADAMTSL3, AIM1, CHRM3, FOXD4, GDF11, HARS, HBS1L, LGALS8, MAN2C1, PCDH8, PCDHGA1, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGB1, PCDHGB2, SLC35E3, TM2D3, TNFAIP6, TNS3, TRPM2 16 6 Timothy Cox
00231413 - - - - - United States - - 0 - - CLP - FST A1BG, ABTB1, C19orf47, C5orf42, CRYBB2, EML4, ENTPD7, FFAR2, FST, HERC1, IL31RA, MYO1A, NCAPD3, ODZ2, PPEF2, RNF20, SERPINI2, SPARC, VMAC 19 3 Timothy Cox
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