Phenotypes for disease #00861 (TAR (thrombocytopenia-absent radius syndrome (TAR)), OMIM:274000)

55 entries on 1 page. Showing entries 1 - 55.
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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     
0000201599 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Isolated (sporadic) - - - neonatal problems unknown - LOVD 00263173
0000201600 platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; no cow milk intolerance - - Isolated (sporadic) - - - neonatal problems unknown - LOVD 00263265
0000201601 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? - - Isolated (sporadic) - - - neonatal problems unknown - LOVD 00263266
0000201602 platelet count (x 109/L) lowest 74 , highest 136; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? - - Isolated (sporadic) - - - no neonatal problems - LOVD 00263268
0000201603 platelet count (x 109/L) lowest 7 , highest 65; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Isolated (sporadic) - - - neonatal problems unknown - LOVD 00263270
0000201604 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Isolated (sporadic) - - - neonatal problems unknown - LOVD 00263276
0000201605 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? - - Isolated (sporadic) - - - neonatal diarrhoea - LOVD 00263278
0000201606 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? - - Isolated (sporadic) - - - neonatal bruising - LOVD 00263279
0000201607 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 - - Isolated (sporadic) - - - bleeding - LOVD 00263228
0000201608 platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplasticnono cardio-vascular abnormality; cow milk intolerance - - Isolated (sporadic) - - - neonatal problems unknown - LOVD 00263292
0000201609 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 - - Familial, autosomal recessive - - - neonatal phototherapy - LOVD 00263260
0000201610 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 - - Familial, autosomal recessive - - - neonatal bleeding - LOVD 00263261
0000201611 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 - - Familial, autosomal recessive - - - no neonatal problems - LOVD 00263169
0000201612 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 - - Familial, autosomal recessive - - - neonatal petechiae - LOVD 00263170
0000201613 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 - - Familial, autosomal recessive - - - no neonatal problems - LOVD 00263171
0000201614 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 - - Familial, autosomal recessive - - - no neonatal problems - LOVD 00263172
0000201615 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 - - Familial, autosomal recessive - - - neonatal petechiae - LOVD 00263175
0000201616 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263177
0000201617 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263178
0000201618 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263262
0000201619 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263263
0000201620 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 - - Familial, autosomal recessive - - - no neonatal problems - LOVD 00263264
0000201621 platelet count (x 109/L) lowest 79 , highest 142; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263267
0000201622 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263269
0000201623 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? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263188
0000201624 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? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263271
0000201625 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 - - Familial, autosomal recessive - - - no neonatal problems - LOVD 00263191
0000201626 platelet count (x 109/L) lowest 31 , highest 91; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263272
0000201627 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263192
0000201628 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 - - Familial, autosomal recessive - - - neonatal bleeding - LOVD 00263273
0000201629 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263194
0000201630 platelet count (x 109/L) lowest ? , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality; no cardio-vascular abnormality; cow milk intolerance - - Familial, autosomal recessive - - - neonatal bruising - LOVD 00263195
0000201631 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263274
0000201632 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263275
0000201633 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? - - Familial, autosomal recessive - - - neonatal bleeding - LOVD 00263198
0000201634 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 - - Familial, autosomal recessive - - - neonatal bleeding - LOVD 00263277
0000201635 platelet count (x 109/L) lowest 112 , highest ?; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - - - LOVD 00263280
0000201636 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 - - Familial, autosomal recessive - - - neonatal tube fed - LOVD 00263281
0000201637 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263282
0000201638 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263283
0000201639 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263284
0000201640 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 - - Familial, autosomal recessive - - - neonatal bleeding - LOVD 00263285
0000201641 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263286
0000201642 platelet count (x 109/L) lowest 94 , highest 155; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263219
0000201643 platelet count (x 109/L) lowest 79 , highest 169; upper limb radii absent or hypoplastic; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263287
0000201644 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? - - Familial, autosomal recessive - - - no neonatal problems - LOVD 00263288
0000201645 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? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263289
0000201646 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 - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263290
0000201647 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? - - Familial, autosomal recessive - - - bleeding - LOVD 00263291
0000201648 platelet count (x 109/L) lowest ? , highest 88; upper limb radii absent or hypoplastic; lower limb abnormality; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263225
0000201649 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263230
0000201650 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality?; cow milk intolerance? - - Familial, autosomal recessive - - - neonatal problems unknown - LOVD 00263231
0000201651 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 - - Familial, autosomal recessive - - - neonatal bleeding - LOVD 00263233
0000201652 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 - - Familial, autosomal recessive - - - neonatal bruising - LOVD 00263294
0000201653 platelet count (x 109/L) lowest ? , highest ?; upper limb abnormality?; lower limb abnormality?; cardio-vascular abnormality; cow milk intolerance - - Familial, autosomal recessive - - - neonatal bleeding - LOVD 00263259
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