Phenotypes for disease #05650 (AI (amelogenesis imperfecta (AI)))

73 entries on 1 page. Showing entries 1 - 73.
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0000201962 amelogenesis imperfecta AI-1G see paper; …, amelogenesis imperfecta, gingival fibromatosis Familial, autosomal recessive - - - - Johan den Dunnen 00264122
0000201963 amelogenesis imperfecta AI-1G see paper; …, amelogenesis imperfecta, gingival fibromatosis Familial, autosomal recessive - - - - Johan den Dunnen 00264123
0000201964 amelogenesis imperfecta AI-1G see paper; …, amelogenesis imperfecta, gingival fibromatosis Familial, autosomal recessive - - - - Johan den Dunnen 00264124
0000201965 amelogenesis imperfecta AI-1G see paper; …, amelogenesis imperfecta, gingival fibromatosis, mental retardation Familial, autosomal recessive - - - - Johan den Dunnen 00264125
0000201966 enamel-renal syndrome AI-1G see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis Familial, autosomal recessive - - - - Johan den Dunnen 00264126
0000201967 enamel-renal syndrome AI-1G see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis Familial, autosomal recessive - - - - Johan den Dunnen 00264127
0000201968 enamel-renal syndrome AI-1G see paper; …, severe enamel hypoplasia, failed tooth eruption, intrapulpal calcifications, enlarged gingiva, nephrocalcinosis Familial, autosomal recessive - - - - Johan den Dunnen 00264128
0000201972 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264132
0000201973 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264133
0000201974 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264134
0000201975 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264135
0000201976 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264136
0000201977 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264137
0000201978 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264138
0000201979 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264139
0000201980 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264140
0000201981 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264141
0000201982 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264142
0000201983 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264143
0000201984 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264144
0000201985 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264145
0000201986 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264146
0000201987 enamel-renal syndrome AI-1G nephrocalcinosis, characteristic dental defects (amelogenesis imperfecta, gingival hyperplasia, impaired tooth eruption) Familial, autosomal recessive - - - - Johan den Dunnen 00264147
0000253058 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335344
0000253059 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335345
0000253060 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335346
0000253061 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335347
0000253062 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335348
0000253063 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335349
0000253064 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335350
0000253065 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335351
0000253066 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335352
0000253067 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335353
0000253068 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335354
0000253069 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335355
0000253070 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335356
0000253071 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335357
0000253072 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335358
0000253073 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335359
0000253074 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335360
0000253075 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335361
0000253076 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335362
0000253077 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335363
0000253078 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335364
0000253079 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335365
0000253080 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335366
0000253081 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335367
0000253082 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335368
0000253083 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335369
0000253084 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335370
0000253085 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335371
0000253087 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335373
0000253088 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335374
0000253089 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335375
0000253090 amelogenesis imperfecta - see paper; ... Familial, autosomal recessive - - - - LOVD 00335376
0000279679 amelogenesis imperfecta AI1F hypoplastic amelogenesis imperfecta involving primary and secondary dentitions, no other health problems Familial, autosomal recessive - - - - Johan den Dunnen 00385876
0000279684 amelogenesis imperfecta - isolated hypoplastic, hypomineralised amelogenesis imperfecta Unknown 25y - - - Johan den Dunnen 00385881
0000279685 amelogenesis imperfecta - isolated amelogenesis imperfecta Familial, autosomal recessive 6y - - - Johan den Dunnen 00385882
0000279686 amelogenesis imperfecta - isolated hypomineralised amelogenesis imperfecta Familial, autosomal recessive 12y - - - Johan den Dunnen 00385883
0000279687 amelogenesis imperfecta - isolated hypoplastic amelogenesis imperfecta Familial, autosomal dominant 16y - - - Johan den Dunnen 00385884
0000279688 amelogenesis imperfecta - isolated hypoplastic amelogenesis imperfecta Unknown 13y - - - Johan den Dunnen 00385885
0000279689 amelogenesis imperfecta - isolated hypomature amelogenesis imperfecta Unknown 18y - - - Johan den Dunnen 00385886
0000279690 amelogenesis imperfecta - isolated hypomineralised amelogenesis imperfecta Familial, autosomal dominant 13y - - - Johan den Dunnen 00385887
0000279691 amelogenesis imperfecta - isolated hypoplastic amelogenesis imperfecta Unknown 14y - - - Johan den Dunnen 00385888
0000279692 amelogenesis imperfecta - isolated amelogenesis imperfecta Familial, autosomal dominant 14y - - - Johan den Dunnen 00385889
0000279693 amelogenesis imperfecta - isolated hypoplastic amelogenesis imperfecta Familial, autosomal dominant 20y - - - Johan den Dunnen 00385890
0000279694 amelogenesis imperfecta - isolated hypoplastic amelogenesis imperfecta Unknown 19y - - - Johan den Dunnen 00385891
0000279695 amelogenesis imperfecta - isolated amelogenesis imperfecta Unknown 10y - - - Johan den Dunnen 00385892
0000279696 amelogenesis imperfecta - isolated hypoplastic, hypomature amelogenesis imperfecta Unknown 10y - - - Johan den Dunnen 00385893
0000279697 amelogenesis imperfecta - isolated hypoplastic amelogenesis imperfecta; more severe phenotype compared to mother (without LAMA3 variant), possible di-genic inheritance Familial, autosomal dominant 14y - - - Johan den Dunnen 00385894
0000279698 amelogenesis imperfecta - enamel renal syndrome, amelogenesis imperfecta Unknown 14y - - - Johan den Dunnen 00385895
0000279726 amelogenesis imperfecta - amelogenesis imperfecta hypomineralised, hypoplastic Unknown 26y - - - Johan den Dunnen 00385923
0000279727 amelogenesis imperfecta - amelogenesis imperfecta hypoplastic Unknown 6y - - - Johan den Dunnen 00385924
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