Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Atonic-Astatic Syndrome Of Foerster |
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Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Posterior Column Ataxia |
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Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Episodic Ataxia Type 5 |
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Ataxia, Truncal ataxia |
ORPHA:211067 |
Optic Atrophy 2 |
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Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Ataxia Type 4 |
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Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
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Progressive cerebellar ataxia, Impaired temperature sensation |
OMIM:212890 |
Ataxia-Deafness-Retardation Syndrome |
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Ataxia |
OMIM:208850 |
Spastic Paraplegia 72, Autosomal Recessive |
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Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Episodic Ataxia, Type 1 |
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Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Neuhauser-Eichner-Opitz Syndrome |
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Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Episodic Ataxia, Type 8 |
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Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
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Intrauterine growth retardation, Short stature |
OMIM:135950 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
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Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia 40 |
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Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Spinocerebellar Ataxia Type 15/16 |
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Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
X-Linked Spinocerebellar Ataxia Type 4 |
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Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Spinocerebellar Ataxia Type 23 |
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Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Ataxia With Fasciculations |
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Ataxia, Fasciculations |
OMIM:108700 |
Cerebellar Ataxia, Cayman Type |
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Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Cerebellar Ataxia, Cayman Type |
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Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Spinocerebellar Ataxia 37 |
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Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Autosomal Spastic Paraplegia Type 30 |
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Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor... |
ORPHA:101010 |
Myoclonus, Familial, 1 |
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Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Spinocerebellar Ataxia 20 |
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Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia 41 |
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Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia Type 30 |
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Limb ataxia, Gait ataxia |
ORPHA:211017 |
Spinocerebellar Ataxia, X-Linked 5 |
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Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia Type 40 |
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Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
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Limb ataxia, Gait ataxia |
ORPHA:284282 |
Spinocerebellar Ataxia 35 |
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Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
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Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Progressive Myoclonic Epilepsy Type 1 |
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Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia 45 |
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Limb ataxia, Gait ataxia |
OMIM:617769 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Urocanase Deficiency |
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Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
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Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Dystonia With Cerebellar Atrophy |
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Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia |
OMIM:611694 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... |
ORPHA:284332 |
Epilepsy, Progressive Myoclonic, 1B |
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Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
3-Methylglutaconic Aciduria Type 3 |
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Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Myoclonus, Cerebellar Ataxia, And Deafness |
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Ataxia, Myoclonus |
OMIM:159800 |
Spinocerebellar Ataxia Type 37 |
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Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Dentatorubral-Pallidoluysian Atrophy |
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Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia 11 |
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Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
X-Linked Non Progressive Cerebellar Ataxia |
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Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Autosomal Dominant Striatal Neurodegeneration |
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Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Spinocerebellar Ataxia Type 35 |
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Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Paroxysmal Exertion-Induced Dyskinesia |
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Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Nystagmus, Hereditary Vertical |
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Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Urocanic Aciduria |
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Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Spinocerebellar Ataxia Type 12 |
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Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Dystonia, Dopa-Responsive |
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Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
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Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Spinocerebellar Ataxia Type 11 |
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Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance, Difficulty walking, Dystonia |
ORPHA:98767 |
Spinocerebellar Ataxia Type 20 |
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Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
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Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Clumsiness, Gait ataxia, Nonpr... |
ORPHA:453521 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function, Dystonia |
OMIM:615159 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi... |
OMIM:616127 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
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Babinski sign, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Myoclonic Epilepsy, Familial Infantile |
|
Ataxia, Impaired tandem gait, Limb ataxia, Gait ataxia |
OMIM:605021 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Bleeding Disorder, Platelet-Type, 18 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ... |
OMIM:607136 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dysmetria, Progressive ... |
OMIM:183086 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... |
ORPHA:849 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Gait disturbance, Ataxia, Limb ataxia, Truncal ataxia |
OMIM:614229 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Epistaxis, Impaired rist... |
OMIM:614201 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... |
OMIM:277460 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Epistaxis |
OMIM:614158 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... |
OMIM:155100 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired ristocetin-induced plat... |
OMIM:231200 |
Factor V Deficiency |
|
Prolonged bleeding time, Prolonged prothrombin time, Epistaxis |
OMIM:227400 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Join... |
OMIM:613679 |
Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Prolonged bleeding time, Joint hemorrhage, Epistaxis |
OMIM:277480 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, A... |
OMIM:193400 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time |
OMIM:608404 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... |
OMIM:139090 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Impaired collagen-induced platel... |
OMIM:187900 |
Hemophilia B |
|
Intracranial hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Joint hemorrhage |
ORPHA:98879 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:601399 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:614074 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Increased circulating IgA level, Hematemesis, Reduced natural... |
OMIM:301000 |