Phenotypes for disease #04254

30 entries on 1 page. Showing entries 1 - 30.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000029100 Girl affected by nonsyndromic cleft lip / palate. - - Familial, autosomal dominant 10y - - - - Maria Rita Passos-Bueno 00038707
0000029101 - - - Familial, autosomal dominant - - - - - Maria Rita Passos-Bueno 00038708
0000029102 - - - Familial, autosomal dominant - - - - - Maria Rita Passos-Bueno 00038709
0000029104 - - - Isolated (sporadic) 37y - - - - Maria Rita Passos-Bueno 00038710
0000029132 Familial case of nonsyndromic cleft lip / palate - - Familial, autosomal dominant 54y - - - - Maria Rita Passos-Bueno 00038763
0000029133 - - - Familial, autosomal dominant - - - - - Maria Rita Passos-Bueno 00038763
0000029157 - - - Familial - - - - - Maria Rita Passos-Bueno 00038816
0000029158 - - - Familial - - - - - Maria Rita Passos-Bueno 00038817
0000029159 - - - Isolated (sporadic) - - - - - Maria Rita Passos-Bueno 00038818
0000029160 - - - Isolated (sporadic) - - - - - Maria Rita Passos-Bueno 00038820
0000029161 - - - Isolated (sporadic) - - - - - Maria Rita Passos-Bueno 00038821
0000029162 - - - Familial - - - - - Maria Rita Passos-Bueno 00038822
0000029163 - - - Isolated (sporadic) - - - - - Maria Rita Passos-Bueno 00038823
0000029164 - - - Isolated (sporadic) - - - - - Maria Rita Passos-Bueno 00038824
0000029165 - - - Isolated (sporadic) - - - - - Maria Rita Passos-Bueno 00038825
0000078582 cleft palate only, 3 individual hard & soft - - Familial, autosomal dominant - - - - - Johan den Dunnen 00063265
0000078583 bilateral CLP - - Unknown - - - - - Johan den Dunnen 00100386
0000078598 bilateral cleft lip/palate - - Unknown - - - - - Johan den Dunnen 00100387
0000078599 nonsyndromic cleft lip/palate - - Unknown - - - - - Johan den Dunnen 00100391
0000084474 Families with individuals with CL and/or CLP. Unaffected family member genotypes present. - - Unknown - - - - - Brett Chiquet 00106668
0000157231 minor anomalies in some affected patients in this family: hypodontia, dry skin, duplicated thumb - - Familial, autosomal dominant - - - congenital - J.H.L.M. (Hans) van Bokhoven 00208593
0000157232 other features in affected family members: hyperkeratosis, hypoplastic nails, choanal atresia, coarse hair - - Familial - - - congenital - J.H.L.M. (Hans) van Bokhoven 00208594
0000157233 other features: Lichen sclerosis. - - Isolated (sporadic) - - - congenital - J.H.L.M. (Hans) van Bokhoven 00208598
0000157251 bilateral CLP - - Unknown - - - - - J.H.L.M. (Hans) van Bokhoven 00208633
0000157372 unilateral CLP - - - - - - - - J.H.L.M. (Hans) van Bokhoven 00208754
0000157387 Cleft lip, alveolus cleft, split velum and uvula - - Unknown - - - - - J.H.L.M. (Hans) van Bokhoven 00208769
0000157388 unilateral cleft lip - - Familial - - - - - J.H.L.M. (Hans) van Bokhoven 00208770
0000157389 cleft lip/palate (CLP) - - Unknown - - - - - J.H.L.M. (Hans) van Bokhoven 00208771
0000173804 vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655) - - Familial, autosomal dominant - - - - - Timothy Cox 00231412
0000173805 - - - Familial, autosomal dominant - - - - - Timothy Cox 00231413
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