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

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Diagnosis: age diagnosis was confirmed

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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295 entries on 3 pages. Showing entries 1 - 100.

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Phenotype 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	see papers; ..., 12m-48m-ataxia; mild phenotype; no telangiectasia; no malignancy; no respiratory disease; no immuno-deficiency;	ataxia	AT	Familial, autosomal recessive	>16y	-	-	-	-	Patrick Concannon	00109896
0000086986	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Patrick Concannon	00109897
0000086987	-	-	-	Familial, autosomal recessive	-	-	-	-	-	Frans BL Hogervorst	00109921
0000086988	see paper; ..., 72m-ataxia; 24y-deceased; 10m-wheelchair bound; telangiectasia; 24y-dermato-sarcoma protuberans, 24y-fibro-sarcoma protuberans	ataxia	AT	Familial, autosomal recessive	24y	-	-	72m-ataxia	-	Frans BL Hogervorst	00109922
0000086989	see paper; ..., 24m-ataxia; telangiectasia; no malignancy; respiratory disease; immuno-deficiency	ataxia	AT	Familial, autosomal recessive	09y	-	-	-	-	Patrick Concannon	00109923
0000086990	see paper; ..., 18m-ataxia; telangiectasia; no malignancy; respiratory disease; no immuno-deficiency	ataxia	AT	Familial, autosomal recessive	14y	-	00y18m	ataxia	-	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	see paper; ..., 12m-72m-ataxia; no telangiectasia; no malignancy; no respiratory disease; no immuno-deficiency	ataxia	AT	Familial, autosomal recessive	17y	-	-	-	-	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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Global Variome shared LOVD

GRAMD1A (GRAM domain containing 1A)