Ataxia-Oculomotor Apraxia Type 1 |
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Gait disturbance, Ataxia |
ORPHA:1168 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
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Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Spinocerebellar Ataxia, X-Linked 2 |
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Abnormality of extrapyramidal motor function, Ataxia |
OMIM:302600 |
Atonic-Astatic Syndrome Of Foerster |
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Ataxia, Abasia, Inability to walk |
OMIM:209100 |
Posterior Column Ataxia |
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Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Episodic Ataxia Type 5 |
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Truncal ataxia, 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 tactile sensation, Gait disturbance, Ataxia, Impaired proprioception, Impaired vibratory... |
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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Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Spastic... |
OMIM:615625 |
Episodic Ataxia, Type 1 |
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Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Episodic Ataxia, Type 8 |
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Slurred speech, Episodic ataxia, Intention tremor, Ataxia |
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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Intention tremor, Ataxia |
OMIM:190200 |
Spinocerebellar Ataxia 40 |
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Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
Spinocerebellar Ataxia Type 15/16 |
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Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia Type 23 |
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Gait ataxia, Impaired distal vibration sensation, Limb ataxia, Babinski sign, Impaired propriocep... |
ORPHA:101108 |
Ataxia With Fasciculations |
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Ataxia, Fasciculations |
OMIM:108700 |
Cerebellar Ataxia, Cayman Type |
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Gait ataxia, Intention tremor, Truncal ataxia, Broad-based gait |
OMIM:601238 |
X-Linked Spinocerebellar Ataxia Type 4 |
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Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
Cerebellar Ataxia, Cayman Type |
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Gait ataxia, Truncal ataxia, Intention tremor, Broad-based gait, Nonprogressive cerebellar ataxia |
ORPHA:94122 |
Spinocerebellar Ataxia 37 |
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Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Autosomal Spastic Paraplegia Type 30 |
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Progressive spastic paraplegia, Somatic sensory dysfunction, Spastic gait, Ataxia, Babinski sign,... |
ORPHA:101010 |
Spinocerebellar Ataxia 20 |
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Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia 41 |
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Gait ataxia, Unsteady gait, Ataxia |
OMIM:616410 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
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Cerebral palsy, Broad-based gait, Dysdiadochokinesis |
OMIM:605388 |
Spinocerebellar Ataxia Type 30 |
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Gait ataxia, Limb ataxia |
ORPHA:211017 |
Myoclonus, Familial, 1 |
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Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Spinocerebellar Ataxia, X-Linked 5 |
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Action tremor, Ataxia |
OMIM:300703 |
Spinocerebellar Ataxia Type 40 |
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Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
Spinocerebellar Ataxia 35 |
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Pseudobulbar paralysis, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired propriocepti... |
OMIM:613908 |
Lichtenstein-Knorr Syndrome |
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Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
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Abnormal pyramidal sign, Truncal ataxia, Ataxia, Dysmetria, Lower limb spasticity, Unsteady gait,... |
OMIM:616948 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
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Truncal ataxia, Dysmetria, Ataxia, Babinski sign |
OMIM:617584 |
Progressive Myoclonic Epilepsy Type 1 |
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Myoclonus, Limb ataxia, Morning myoclonic jerks, Ataxia, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia 45 |
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Gait ataxia, Limb ataxia |
OMIM:617769 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
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Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia |
ORPHA:2589 |
Urocanase Deficiency |
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Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Dystonia With Cerebellar Atrophy |
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Torticollis, Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
Neurodegeneration With Brain Iron Accumulation 8 |
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Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady gait |
OMIM:617917 |
Epilepsy, Progressive Myoclonic, 1B |
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Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
3-Methylglutaconic Aciduria Type 3 |
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Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia |
ORPHA:67047 |
Myoclonus, Cerebellar Ataxia, And Deafness |
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Myoclonus, Ataxia |
OMIM:159800 |
Spinocerebellar Ataxia Type 37 |
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Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
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Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
Dentatorubral-Pallidoluysian Atrophy |
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Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia 11 |
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Gait ataxia, Gait imbalance, Truncal ataxia, Limb ataxia, Progressive cerebellar ataxia |
OMIM:604432 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
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Spasticity, Progressive gait ataxia, Clumsiness, Babinski sign, Intention tremor, Dysmetria, Diff... |
ORPHA:284332 |
X-Linked Non Progressive Cerebellar Ataxia |
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Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
Autosomal Dominant Striatal Neurodegeneration |
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Rigidity, Bradykinesia, Gait disturbance, Dysdiadochokinesis |
ORPHA:228169 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
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Inability to walk, Abnormality of extrapyramidal motor function, Ataxia, Athetosis, Dystonia |
OMIM:615159 |
Spinocerebellar Ataxia Type 35 |
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Gait ataxia, Pseudobulbar paralysis, Torticollis, Limb ataxia, Babinski sign, Dysmetria, Difficul... |
ORPHA:276193 |
Spinocerebellar Ataxia 38 |
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Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Nystagmus, Hereditary Vertical |
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Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Urocanic Aciduria |
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Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
Spastic Ataxia 2, Autosomal Recessive |
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Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Dystonia, Dopa-Responsive |
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Gait ataxia, Spasticity, Impaired distal vibration sensation, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
Spinocerebellar Ataxia Type 12 |
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Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
Paroxysmal Exertion-Induced Dyskinesia |
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Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... |
ORPHA:98811 |
Spinocerebellar Ataxia Type 11 |
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Abnormal pyramidal sign, Gait imbalance, Difficulty walking, Progressive cerebellar ataxia, Dystonia |
ORPHA:98767 |
Spinocerebellar Ataxia Type 20 |
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Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
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Gait ataxia, Spasticity, Clumsiness, Ataxia, Dysmetria, Intention tremor |
OMIM:608029 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
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Gait ataxia, Spasticity, Dysdiadochokinesis, Dysmetria, Unsteady gait, Intention tremor |
OMIM:615386 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
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Gait ataxia, Truncal ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Broad-based gai... |
OMIM:616127 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
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Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait |
ORPHA:284271 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
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Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
Glanzmann Thrombasthenia 2 |
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Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:619267 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Spasticity, Rigidity, Ataxia, Bradykinesia, Fasciculations |
OMIM:183050 |
Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
Myoclonic Epilepsy, Familial Infantile |
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Gait ataxia, Impaired tandem gait, Limb ataxia, Ataxia |
OMIM:605021 |
Spinocerebellar Ataxia 29 |
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Gait ataxia, Dysdiadochokinesis, Limb ataxia, Broad-based gait, Truncal titubation, Impaired tand... |
OMIM:117360 |
Glanzmann Thrombasthenia 1 |
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Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Impaired epi... |
OMIM:273800 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Gait ataxia, Postural tremor, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxia, Babinski sign,... |
OMIM:609270 |
Dystonia 9 |
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Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia |
OMIM:601042 |
Bleeding Disorder, Platelet-Type, 18 |
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Epistaxis, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephri... |
OMIM:615888 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
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Gait ataxia, Dysdiadochokinesis, Babinski sign, Dysmetria, Vestibular areflexia, Progressive cere... |
ORPHA:504476 |
Spinocerebellar Ataxia 44 |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Ataxia, Dysmetria, Frequent falls |
OMIM:617691 |
Athrombia, Essential |
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Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggregation |
OMIM:209050 |
Spinocerebellar Ataxia 4 |
|
Limb dysmetria, Distal sensory impairment, Progressive cerebellar ataxia, Babinski sign |
OMIM:600223 |
Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Ataxia, Broad-based... |
OMIM:607136 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Truncal ataxia, Poor coordination, Limb ataxia, Ataxia, S... |
ORPHA:98772 |
Spinocerebellar Ataxia 6 |
|
Truncal ataxia, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Dysmetria, Slurred spee... |
OMIM:183086 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... |
ORPHA:98759 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
Glanzmann Thrombasthenia |
|
Impaired collagen-related peptide-induced platelet aggregation, Impaired arachidonic acid-induced... |
ORPHA:849 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:619405 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia |
OMIM:614229 |
Bleeding Disorder, Platelet-Type, 11 |
|
Epistaxis, Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Impaired co... |
OMIM:614201 |
Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Clumsiness, Gait disturbance, Ataxia, Positive Romberg sign, Impaired proprio... |
OMIM:277460 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Prolonged bleeding time |
OMIM:614158 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... |
OMIM:155100 |
Bernard-Soulier Syndrome |
|
Epistaxis, Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Gastrointes... |
OMIM:231200 |
Factor V Deficiency |
|
Epistaxis, Prolonged bleeding time, Prolonged prothrombin time |
OMIM:227400 |
Prothrombin Deficiency, Congenital |
|
Epistaxis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Prolonged bleeding time, Join... |
OMIM:613679 |
Von Willebrand Disease, Type 3 |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation, Joint hemorrhage |
OMIM:277480 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Von Willebrand Disease, Type 1 |
|
Impaired platelet aggregation, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding time, A... |
OMIM:193400 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time |
OMIM:608404 |
Gray Platelet Syndrome |
|
Epistaxis, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired coll... |
OMIM:139090 |
Hermansky-Pudlak Syndrome 7 |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Epistaxis, Gastrointestinal hemorrhage, Prolon... |
OMIM:187900 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Joint hemorrhage |
ORPHA:98879 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Prolonged bleeding time, Impaired platelet aggregation |
OMIM:601399 |
Hermansky-Pudlak Syndrome 5 |
|
Epistaxis, Prolonged bleeding time, Impaired ADP-induced platelet aggregation |
OMIM:614074 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Dystonia, Bradykinesia |
OMIM:168600 |
Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Small vessel vasculitis, L... |
OMIM:301000 |