Phenotypes for disease #01671 (AT (ataxia-telangiectasia (AT)), OMIM:208900)

171 entries on 2 pages. Showing entries 1 - 100.
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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     
0000053281 - - - Familial, autosomal recessive - - - - - Claire Guissart 00073133
0000082840 HP:0001260 Dysarthria;HP:0005407 Decreased number of CD4+ T cells;HP:0002837 Recurrent bronchitis; HP:0006254 Elevated alpha-fetoprotein;HP:0001251 Ataxia;HP:0000524 Conjunctival telangiectasia;HP:0008348 Immunoglobulin IgG2 deficiency - - Familial, autosomal recessive 03y 05y - 01y07m - Jekaterina Shubina 00104957
0000082841 HP:0008348 Immunoglobulin IgG2 deficiency; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0005407 Decreased number of CD4+ T cells - - Familial, autosomal recessive 02y 03y 03y 03y - Jekaterina Shubina 00104958
0000082874 HP:0008348 Immunoglobulin IgG2 deficiency;HP:0000524 Conjunctival telangiectasia; HP:0001251 Ataxia; HP:0006254 Elevated alpha-fetoprotein; HP:0002837 Recurrent bronchitis; HP:0005407 Decreased number of CD4+ T cells - - Familial, autosomal recessive 03y 04y 00y 00y - Jekaterina Shubina 00104982
0000086948 - - - Familial, autosomal recessive - - - - - Monica Martinez-Gallo 00109574
0000086949 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109582
0000086950 - - - Familial, autosomal recessive - - - - - Frans BL Hogervorst 00109594
0000086951 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109608
0000086952 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109612
0000086953 slow disease progression; 7y-ataxia; 45y-wheelchair; dystonia, dysarthria, abnormal movements, ccular telangiectasia; 60y-no cancer - atypical ATM Familial, autosomal recessive - - - - - Patrick Concannon 00109618
0000086954 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109629
0000086955 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109630
0000086956 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109650
0000086957 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109651
0000086958 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109664
0000086959 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109665
0000086960 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109666
0000086961 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109667
0000086962 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109685
0000086963 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109686
0000086964 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109687
0000086965 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109689
0000086966 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109707
0000086967 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109708
0000086968 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109711
0000086969 affected sister, HMATM05.II, with same mutations - - Unknown - - - - - Frans BL Hogervorst 00109743
0000086970 Affected sister 14587X, with same variants, deceased. - - Unknown - - - - - Patrick Concannon 00109745
0000086971 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109756
0000086972 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109766
0000086973 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109768
0000086974 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109782
0000086975 Hyper IgM; no neurologic symptoms - - Familial, autosomal recessive - - - - - Patrick Concannon 00109783
0000086976 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109803
0000086977 - - - Familial, autosomal recessive - - - - - Monica Martinez-Gallo 00109810
0000086978 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109830
0000086980 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109845
0000086981 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109856
0000086982 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109868
0000086983 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109889
0000086984 left cerebellar astrocytoma and right cerebellar infarction - - Familial, autosomal recessive - - - - - Patrick Concannon 00109891
0000086985 mild phenotype, ataxia developing at 24 months but absent at 5-6 years of age - - Unknown - - - - - Patrick Concannon 00109896
0000086986 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109897
0000086987 - - - Familial, autosomal recessive - - - - - Frans BL Hogervorst 00109921
0000086988 - - - Familial, autosomal recessive - - - - - Frans BL Hogervorst 00109922
0000086989 Sister (14897S) homozygous for the same mutation - - Unknown - - - - - Patrick Concannon 00109923
0000086990 Affected brother (13462) homozygous for same variant - - Unknown - - - - - Patrick Concannon 00109924
0000086991 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109925
0000086992 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109936
0000086993 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00109953
0000086994 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00109954
0000086995 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109955
0000086996 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109956
0000086997 Affected sister (14686) and affected male cousin (10-0375) homozygous for the same variant - - Unknown - - - - - Patrick Concannon 00109972
0000086998 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00109974
0000086999 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00110026
0000087000 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110029
0000087001 two affected siblings - - Familial, autosomal recessive - - - - - Patrick Concannon 00110036
0000087002 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110037
0000087003 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110064
0000087004 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110069
0000087005 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110070
0000087006 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110071
0000087007 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110072
0000087008 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110073
0000087009 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00110077
0000087010 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110078
0000087011 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110079
0000087012 mild phenotype - - Unknown - - - - - Patrick Concannon 00110092
0000087013 - - - Familial, autosomal recessive - - - - - Frans BL Hogervorst 00110095
0000087014 early onset dystonia; bore children - - Familial, autosomal recessive - - - - - Patrick Concannon 00110114
0000087015 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00110115
0000087016 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110116
0000087017 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110117
0000087018 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110118
0000087019 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110119
0000087020 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110120
0000087021 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00110131
0000087022 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110134
0000087023 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110140
0000087024 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110141
0000087025 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110142
0000087026 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110143
0000087027 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110144
0000087028 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00110154
0000087029 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00110155
0000087030 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00110156
0000087031 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00110157
0000087032 early onset dystonia bore children - - Familial, autosomal recessive - - - - - Patrick Concannon 00110158
0000087033 early onset dystonia - - Familial, autosomal recessive - - - - - Patrick Concannon 00110159
0000087034 - - - Familial, autosomal recessive - - - - - Ignacio J. Molina 00110161
0000087035 - - - Familial, autosomal recessive - - - - - Frans BL Hogervorst 00110176
0000087036 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110186
0000087037 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110200
0000087038 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110201
0000087039 Affected sister with same mutations died at age 7 - - Unknown - - - - - Patrick Concannon 00110222
0000087040 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110227
0000087041 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110249
0000087042 - - - Familial, autosomal recessive - - - - - Patrick Concannon 00110250
0000087043 affected female sibling with same mutations - - Familial, autosomal recessive - - - - - Frans BL Hogervorst 00110288
0000087044 affected male sibling with same mutations - - Familial, autosomal recessive - - - - - Frans BL Hogervorst 00110289
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