Disease #00861 (TAR (thrombocytopenia-absent radius syndrome (TAR)), OMIM:274000)

Official abbreviation TAR
Name thrombocytopenia-absent radius syndrome (TAR)
OMIM ID 274000
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 55
Phenotype entries for this disease 55
Associated with 1 gene RBM8A
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

55 entries on 1 page. Showing entries 1 - 55.
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00263169 19 - patient ? no - - >23y - - - TAR delivery 40w; platelet count (x 109/L) lowest 26 , highest 133; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263170 20 - patient ? no - - >23y - - - TAR delivery 40w, birth weight 2750g; platelet count (x 109/L) lowest 10 , highest 110; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263171 21 - patient ? no - - >26y - - - TAR delivery 40w; platelet count (x 109/L) lowest 20 , highest 53; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263172 22 - patient ? no - - >27y - - - TAR delivery 40w; platelet count (x 109/L) lowest 10 , highest 40; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263173 23 - 2-generation family, 1 affected ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263175 33 - 2-generation family, 1 affected ? no - - >29y - - - TAR delivery 41w, birth weight 3110g; platelet count (x 109/L) lowest 13 , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263177 40 - 2-generation family, 2 affecteds ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263178 41 - 2-generation family, 2 affecteds ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263188 88 - patient F no - - >4y - - - TAR birth weight 2720g; platelet count (x 109/L) lowest ? , highest 34; upper limb radii absent or hypoplastic; no lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263191 98 - patient F no - - >4y - - - TAR delivery 40w, birth weight 2910g; platelet count (x 109/L) lowest 7 , highest 295; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263192 113 - patient ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263194 122 - patient M no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263195 124 - patient F no - - >22y - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263198 139 - 2-generation family, 1 affected F no - - >17y - - - TAR delivery 42w, birth weight 3459g; platelet count (x 109/L) lowest 20 , highest 55; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263219 64 - patient M no - - >23y - - - TAR platelet count (x 109/L) lowest 94 , highest 155; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263225 89 - patient M no - - >8y - - - TAR platelet count (x 109/L) lowest ? , highest 88; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263228 114 - 2-generation family, 1 affected ? no - - >8y - - - TAR delivery 42w, birth weight 2960g; platelet count (x 109/L) lowest ? , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263230 145 (mother of 121) - 2-generation family, mother patient F no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 1 1 LOVD
00263231 123 - patient ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263233 128 - 2-generation family, 1 affected F no - - >8y - - - TAR delivery 41w, birth weight 3544g; platelet count (x 109/L) lowest 11 , highest 178; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263259 140 - patient F no - - >9y - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263260 13 - 2-generation family, 1 affected F no - - >5y - - - TAR delivery 40w, birth weight 2670g; platelet count (x 109/L) lowest 37 , highest 43; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263261 16 - 2-generation family, 1 affected F no - - >15y - - - TAR delivery 40w, birth weight 3150g; platelet count (x 109/L) lowest 29 , highest 64; upper limb absence of radius, ulna and humerus, hypoplasia of scapula; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263262 47 - 2-generation family, 1 affected M no - - >4m - - - TAR delivery 40w, birth weight 3450g; platelet count (x 109/L) lowest 30 , highest 233; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263263 50 - 2-generation family, 1 affected M no - - >26y - - - TAR platelet count (x 109/L) lowest ? , highest 163; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263264 53 - 2-generation family, 1 affected F no - - >1y - - - TAR birth weight 2610g; platelet count (x 109/L) lowest 10 , highest 28; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263265 56 - 2-generation family, 1 affected F no - - >34y - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263266 59 - 2-generation family, 1 affected M no - - >26y - - - TAR birth weight 2600g; platelet count (x 109/L) lowest 10 , highest 200; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263267 65 - 2-generation family, 1 affected F no - - >34y - - - TAR platelet count (x 109/L) lowest 79 , highest 142; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263268 83 - 2-generation family, 1 affected F no - - >37y - - - TAR platelet count (x 109/L) lowest 74 , highest 136; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263269 85 - 2-generation family, 1 affected F no - - >17d - - - TAR delivery 37w, birth weight 2800g; platelet count (x 109/L) lowest ? , highest 167; upper limb radii absent or hypoplasticnocardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263270 92 - 2-generation family, 1 affected M no - - >1y6m - - - TAR platelet count (x 109/L) lowest 7 , highest 65; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263271 95 - 2-generation family, 1 affected M no - - >6y - - - TAR delivery 39w, birth weight 2900g; platelet count (x 109/L) lowest 18 , highest 180; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263272 101 - 2-generation family, 1 affected F no - - >17y - - - TAR platelet count (x 109/L) lowest 31 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263273 116 - 2-generation family, 1 affected F no - - >8y - - - TAR delivery 40w, birth weight 3062g; platelet count (x 109/L) lowest 12 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263274 125 - 2-generation family, 1 affected ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263275 134 - 2-generation family, 1 affected ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263276 136 - 2-generation family, 1 affected ? no - - - - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263277 142 - 2-generation family, 1 affected M no - - >16y - - - TAR delivery 40w; platelet count (x 109/L) lowest ? , highest 78; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263278 1 - 2-generation family, 1 affected M no - - >31y - - - TAR platelet count (x 109/L) lowest 110 , highest 111; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263279 2 - 2-generation family, 1 affected F no - - >6m - - - TAR delivery 41w, birth weight 3549g; platelet count (x 109/L) lowest 7 , highest 20; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263280 4 - 2-generation family, 1 affected F no - - >14y - - - TAR platelet count (x 109/L) lowest 112 , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263281 5 - 2-generation family, 1 affected F no - - >29y - - - TAR delivery 40w, birth weight 3175g; platelet count (x 109/L) lowest 11 , highest 78; upper limb radii absent or hypoplasticnono cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263282 6 - 2-generation family, 1 affected F no - - >28y6m - - - TAR delivery 40w, birth weight 2900g; platelet count (x 109/L) lowest 101 , highest 142; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263283 7 - 2-generation family, 1 affected F no - - >22y - - - TAR platelet count (x 109/L) lowest 12 , highest 59; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263284 8 - 2-generation family, 1 affected F no - - >2d - - - TAR platelet count (x 109/L) lowest ? , highest 20; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263285 10 - 2-generation family, 1 affected M no - - >28y - - - TAR delivery 40w, birth weight 2900g; platelet count (x 109/L) lowest 8 , highest 120; Absence of radius with hypoplasia of humerus and ulna; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263286 42 - 2-generation family, 1 affected F no - - >17y - - - TAR delivery 40w, birth weight 2750g; platelet count (x 109/L) lowest 9 , highest 58; upper limb radii absent or hypoplastic; no lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263287 68 - 2-generation family, 1 affected M no - - >1y6m - - - TAR platelet count (x 109/L) lowest 79 , highest 169; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263288 70 - 2-generation family, 2 affecteds F no - - >18y - - - TAR delivery 38w, birth weight 2600g; platelet count (x 109/L) lowest 34 , highest 154; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263289 71 - 2-generation family, 2 affecteds F no - - >6m - - - TAR delivery 39w, birth weight 3510g; platelet count (x 109/L) lowest 30 , highest 200; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263290 74 - 2-generation family, 1 affected M no - - >39y - - - TAR platelet count (x 109/L) lowest 79 , highest 169; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance RBM8A RBM8A 2 1 LOVD
00263291 76 - 2-generation family, 1 affected M no - - >2y - - - TAR delivery 40w, birth weight 3220g; platelet count (x 109/L) lowest 8 , highest 130; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance? RBM8A RBM8A 2 1 LOVD
00263292 121 - 2-generation family, 1 affected F no - - >36y - - - TAR platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplasticnono cardio-vascular abnormality; cow milk intolerance RBM8A RBM8A 1 1 LOVD
00263294 3 - 2-generation family, 1 affected F no - - >14y - - - TAR birth weight 3232g; platelet count (x 109/L) lowest 90 , highest 140; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance RBM8A RBM8A 2 1 LOVD
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