Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Abnormal retinal morphology, Gait ataxia, Cerebellar hypoplasia, Nonprogressive... |
ORPHA:94122 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,... |
ORPHA:99013 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ... |
OMIM:617018 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Cerebellar atrophy, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Abnormal pyramidal sign, Gait dis... |
OMIM:616859 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Decreased activity of mitochondrial complex IV, Ataxia, Spastic tetraparesis |
OMIM:619061 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... |
OMIM:614322 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Spastic tetraplegia, Abnormal mitochondrial morphology, Choreoathetosis, Spasticit... |
OMIM:300438 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Rod-cone ... |
ORPHA:1178 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Cerebellar vermis atrophy |
OMIM:615957 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... |
ORPHA:95434 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Weight loss, Gait ataxia, Progres... |
ORPHA:248111 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Decreased activity of m... |
OMIM:619054 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Progressive cerebe... |
OMIM:164500 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Aplasia/Hypoplas... |
ORPHA:2572 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:616187 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Tremor, Decreased activity of mitochondrial complex IV, Decreased activity of mitochondri... |
OMIM:618951 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Gait imbalance, Myoclonus, Decreased ... |
OMIM:301020 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Impaired vibratory sensation, Mitochondrial hypertrophy, Decreased activity of mitochondrial comp... |
OMIM:500013 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Slender build, Decreased mitochondrial number, Gait disturbance, Difficulty walking |
ORPHA:352470 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ata... |
OMIM:607317 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Abnormality of t... |
ORPHA:330050 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor fun... |
OMIM:302500 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Generalized dystonia, Ataxia, Inabi... |
OMIM:619389 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... |
OMIM:256731 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Cerebellar ... |
ORPHA:33445 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... |
OMIM:213200 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Leber Hereditary Optic Neuropathy |
|
Ataxia, Postural tremor, Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity, Mito... |
ORPHA:104 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Tremor, Dysmetria, ... |
OMIM:610185 |
Mepan Syndrome |
|
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Decreased activity of... |
ORPHA:508093 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... |
ORPHA:216873 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Hypoplastic opti... |
OMIM:210000 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga... |
OMIM:616127 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia,... |
OMIM:617145 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Ataxia, Cerebellar vermis hypoplasia, Optic atr... |
ORPHA:543470 |
Leukodystrophy, Hypomyelinating, 21 |
|
Cerebellar atrophy, Ataxia, Cryptorchidism, Optic atrophy, Athetosis, Tetraparesis, Dystonia, Fai... |
OMIM:619310 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:605259 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Cerebellar atrophy, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Generalized dystonia, Unsteady gait, Gait distu... |
ORPHA:412217 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, An... |
ORPHA:521406 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Spastic para... |
OMIM:614877 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... |
OMIM:615362 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... |
OMIM:616204 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Decreased activity of mitochondrial complex III, Athetosis, Abnormalit... |
OMIM:615159 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, ... |
OMIM:300423 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Br... |
OMIM:619063 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Tremor, Dysmetria |
OMIM:615578 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Cerebellar vermis hypoplasia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, ... |
ORPHA:453521 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Decreased activity... |
OMIM:613662 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait a... |
OMIM:615157 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Dysmetria, Oculomotor aprax... |
OMIM:614867 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Impaired tandem ... |
OMIM:117360 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... |
ORPHA:276435 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Impaired vibratory sensation, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cer... |
ORPHA:98 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei... |
ORPHA:157941 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Decreased activity of mitochondrial complex IV, Weight loss, Gait ataxia, Failure to th... |
OMIM:612075 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... |
ORPHA:93952 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Dysequilibrium Syndrome |
|
Cerebral palsy, Ataxia, Gait disturbance |
ORPHA:1766 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Weight loss, Gait ataxia, Bradyk... |
OMIM:137440 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... |
OMIM:615491 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Ataxia, Gait ataxia, Spinocerebel... |
OMIM:215470 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... |
ORPHA:363717 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Incoordination, Tremor, Paraparesi... |
OMIM:302800 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... |
OMIM:609260 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston... |
ORPHA:300605 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... |
OMIM:617633 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Dystonia |
OMIM:617836 |
Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Incoordination, Ataxia, Limb ... |
OMIM:600224 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O... |
ORPHA:280234 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance |
ORPHA:101078 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... |
ORPHA:79263 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Weight loss, Opisthotonus... |
ORPHA:216866 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu... |
ORPHA:313772 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... |
OMIM:607694 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Spasticity, Ataxia, Tremor |
OMIM:278780 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rig... |
ORPHA:98759 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... |
ORPHA:101077 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction v... |
ORPHA:485421 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Opt... |
ORPHA:98755 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Decreased activity of mitochondrial complex I, Optic atrophy, Spastic tetraplegia, Ataxia |
OMIM:618248 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Huntington Disease |
|
Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Weig... |
ORPHA:399 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, ... |
OMIM:616505 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Cogwheel ri... |
ORPHA:254886 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a... |
OMIM:618249 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokinesis, Progressive gai... |
ORPHA:289494 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculom... |
OMIM:208920 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Cryptorchidism, Abnormality of mitochondrial metabolism, Hypertonia, Gait disturbance, Ap... |
ORPHA:1192 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Optic atrophy, Ataxia |
OMIM:300983 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg... |
ORPHA:247234 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnorm... |
ORPHA:329284 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Ataxia, Elongated superior cerebell... |
ORPHA:370022 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, H... |
OMIM:617435 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Spasticity, Rod-cone dystrophy, Intention tr... |
OMIM:614307 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy... |
OMIM:612674 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady ... |
ORPHA:228360 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... |
ORPHA:391417 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormality of macular pigmentation, A... |
ORPHA:97229 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Limb myoclonus, Limb atax... |
ORPHA:276198 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Mitochondrial hypertrophy, Facial palsy |
OMIM:602541 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Mitochondrial hypertrophy, Failure to thrive |
OMIM:619518 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity, Dense calcificat... |
ORPHA:542310 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia, Retinopathy |
OMIM:619422 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Azoospermia, Testicular atrophy, Ataxia |
OMIM:613909 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis |
OMIM:619470 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment, Weight loss |
ORPHA:84142 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive |
OMIM:619556 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walk... |
OMIM:159950 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Crypt... |
OMIM:300957 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:614381 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal... |
OMIM:300623 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys... |
OMIM:183086 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inab... |
OMIM:128100 |
Christianson Syndrome |
|
Cerebellar atrophy, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Aplasia/Hypoplasia of the ce... |
ORPHA:85278 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri... |
ORPHA:98761 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Pigmentary retinopathy, Lower limb hype... |
ORPHA:3208 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Tremor |
OMIM:616269 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Decreas... |
OMIM:312170 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Mitochondrial swelling, Vocal cord paralysis, Tremor |
ORPHA:397744 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... |
ORPHA:401768 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia |
OMIM:612020 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Small for gestational age, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Barth Syndrome |
|
Failure to thrive, Gait disturbance, Abnormal mitochondrial morphology |
OMIM:302060 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit... |
OMIM:300055 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... |
OMIM:118300 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,... |
ORPHA:702 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal au... |
OMIM:300894 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hyp... |
OMIM:617710 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Abnormal dentate nucleus morphology, Ataxia, Pa... |
ORPHA:48818 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired... |
OMIM:606002 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnormality of extrap... |
OMIM:615673 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Rigidity, Hypoplasia of the pons, Unste... |
ORPHA:98760 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Obesity, Shuffling... |
ORPHA:3077 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Cerebellar v... |
OMIM:617988 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Abnormality of mitochon... |
ORPHA:314404 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, ... |
ORPHA:95433 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Decreased te... |
ORPHA:457240 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Decreased mitochondrial number |
ORPHA:352447 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Oculopharyngodistal Myopathy |
|
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis |
ORPHA:98897 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Tremor, Optic atrophy, Pontocerebellar atrophy, Failure to thrive, Retinopathy, Abnormal ... |
OMIM:608799 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... |
OMIM:607483 |
Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612126 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... |
OMIM:601162 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Reticular Dysgenesis |
|
Failure to thrive, Abnormality of mitochondrial metabolism, Weight loss |
ORPHA:33355 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Decreased activity of mitochondrial complex IV, Unsteady gait, Decr... |
ORPHA:17 |
Neuroferritinopathy |
|
Resting tremor, Abnormal dentate nucleus morphology, Parkinsonism, Involuntary movements, Writer'... |
ORPHA:157846 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ataxia |
OMIM:619473 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Tremor, Decreased activity of mitochondrial complex IV... |
OMIM:614947 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Rigidity, Tremor, Dystonia |
OMIM:615010 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Flynn-Aird Syndrome |
|
Rod-cone dystrophy, Ataxia, Cachexia, Impaired pain sensation |
ORPHA:2047 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Abnormal cerebellum... |
OMIM:618056 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive, Abnormal testis morphology |
ORPHA:100 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Pigmentary ... |
OMIM:617675 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Abnormal activity of mitochondrial respi... |
OMIM:617186 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Retinal pigment epithelial mottling, Hy... |
OMIM:607459 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... |
ORPHA:845 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... |
ORPHA:363400 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... |
ORPHA:502423 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... |
OMIM:616586 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Fatal Familial Insomnia |
|
Myoclonus, Ataxia, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:600072 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Abnormal cerebellum morphology, Babinski sign, Impaired vibration sensation in the lower ... |
ORPHA:447753 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Cryptorchidism, Gait ataxia, Abdominal obesity, Decreased testicular size, Cerebellar ver... |
OMIM:300354 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Abnormal retinal vascular morphology, Tremor, Unsteady gait, Optic ... |
ORPHA:354 |
Sialidosis Type 2 |
|
Tremor, Ataxia, Abnormal macular morphology |
ORPHA:87876 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Cachexia, Weight loss, Paresthesia, Abnormality of the... |
ORPHA:298 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... |
ORPHA:411602 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Failure to thrive, Mitochondrial swelling |
OMIM:618250 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Cachexia |
ORPHA:1933 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia, Rod-cone dys... |
OMIM:607426 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Amyloid deposition in the vitreous humor, Abnormal pyramidal sign, Limb ataxia, P... |
OMIM:105210 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, Gait disturbance, Myoclonus,... |
ORPHA:812 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased plasma total carnitine, Ataxia, Cachexia |
ORPHA:42 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Abnormal optic nerve morphology, Gait di... |
ORPHA:83629 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Gait ataxia, Truncal ataxia, Spasticity |
OMIM:312750 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Retinal dystrophy, Ataxia, Tremor, Gait dist... |
ORPHA:220493 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Cerebellar atrophy, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Weight loss, Chiari type I malforma... |
ORPHA:221098 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, I... |
ORPHA:466768 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cachexia, Babinski sign, Facial di... |
OMIM:618186 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive |
OMIM:256700 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Hypertonia, Spasticity |
OMIM:616801 |
Attrv30M Amyloidosis |
|
Weight loss, Abnormal autonomic nervous system physiology, Vitreous floaters |
ORPHA:85447 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Weight loss |
ORPHA:79242 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... |
OMIM:168600 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Pigmentary retinopathy, Testicular atrophy |
OMIM:222300 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Retinal dystrophy, Ataxia |
ORPHA:713 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Cogwheel... |
ORPHA:254892 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Cerebel... |
OMIM:620327 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... |
ORPHA:99956 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cachexia, Decreased nerve ... |
ORPHA:206436 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Oculomotor... |
ORPHA:220497 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... |
OMIM:254900 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Oculomotor... |
ORPHA:475 |
Rhabdoid Tumor |
|
Hemiplegia, Cerebral palsy, Weight loss |
ORPHA:69077 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclo... |
OMIM:616271 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Retinal hemorrhage, Athetosi... |
ORPHA:25 |
Wilson Disease |
|
Increased body weight, Clumsiness, Weight loss, Difficulty walking, Failure to thrive |
ORPHA:905 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Decreased activity of mitochondrial ATP synthase complex, Ataxia, Trem... |
OMIM:614052 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Optic neuropathy, Tremor, Decreased activity of mitochondrial complex IV, Optic atrophy, ... |
OMIM:610505 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen |
ORPHA:90321 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Pigmentary retinopathy, Ataxia |
ORPHA:79095 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Ataxia, Cachexia, Optic atrophy, Spasticity, Retinopathy |
ORPHA:220295 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... |
OMIM:212065 |
Igg4-Related Retroperitoneal Fibrosis |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Optic disc co... |
ORPHA:1454 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Hypertonia, Retinal degeneration, Inten... |
ORPHA:191 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Fumarase Deficiency |
|
Failure to thrive, Mitochondrial swelling, Optic atrophy |
OMIM:606812 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Gait disturbance, Cachexia |
ORPHA:2774 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Aicardi-Goutieres Syndrome 9 |
|
Spastic tetraparesis, Optic atrophy, Chorioretinal atrophy, Spastic tetraplegia, Weight loss, Spa... |
OMIM:619487 |
Hirschsprung Disease |
|
Aganglionic megacolon, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Takayasu Arteritis |
|
Retinopathy, Weight loss |
ORPHA:3287 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Kaposi Sarcoma |
|
Abnormal retinal morphology, Weight loss |
ORPHA:33276 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Failure to thrive, Ataxia, Decreased testicular size |
OMIM:201100 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of... |
ORPHA:2388 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
Peripheral Primitive Neuroectodermal Tumor |
|
Abnormal superior cerebellar peduncle morphology, Torticollis, Somatic sensory dysfunction, Weigh... |
ORPHA:370348 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares... |
ORPHA:144 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Cachexia, Tremor, Obesity, Decreased testicular size |
ORPHA:85293 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Giant Cell Arteritis |
|
Optic atrophy, Paresthesia, Ataxia, Weight loss |
ORPHA:397 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Decreased activity of mitochondrial complex IV, Babinski sign, Decreased activity of mito... |
OMIM:616539 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Beta-Ketothiolase Deficiency |
|
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss |
ORPHA:134 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Familial Colorectal Cancer Type X |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Gait disturbance, Pares... |
ORPHA:440437 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... |
ORPHA:512 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys... |
ORPHA:2828 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ataxia, Weight loss, Apraxia, Failure to thrive, Retinopathy |
ORPHA:99885 |
Renpenning Syndrome |
|
Decreased testicular size, Cachexia |
ORPHA:3242 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Hyperesthesia, Spastic tetraplegia, Cachexia |
ORPHA:371364 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Tremor, Weight loss, Difficulty walking |
OMIM:164310 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Exudative retinop... |
OMIM:612199 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal optic nerve morphology, Weight loss |
ORPHA:3226 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Abnormal... |
ORPHA:646 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss |
ORPHA:142 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Kallmann Syndrome |
|
Ataxia, Tremor, Cryptorchidism, Obesity, Paraplegia, Gait disturbance, Decreased testicular size |
ORPHA:478 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:212750 |
Behçet Disease |
|
Ataxia, Orchitis, Retrobulbar optic neuritis, Abnormal pyramidal sign, Weight loss, Hemiparesis, ... |
ORPHA:117 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Testicular neoplasm, Weight loss |
ORPHA:83469 |
Erdheim-Chester Disease |
|
Abnormal cerebellum morphology, Ataxia, Weight loss |
ORPHA:35687 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss, R... |
ORPHA:29072 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Unsteady gait, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Whipple Disease |
|
Ataxia, Abnormal pyramidal sign, Cachexia, Myoclonus |
ORPHA:3452 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity |
ORPHA:20 |
Dpagt1-Cdg |
|
Failure to thrive, Ataxia, Akinesia, Tremor, Inability to walk, Abnormal cerebellum morphology, O... |
ORPHA:86309 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Riddle Syndrome |
|
Ataxia, Clumsiness, Weight loss, Gait disturbance, Poor hand-eye coordination |
ORPHA:420741 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Retinal atrophy, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... |
OMIM:216400 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Azoospermia, Leydig cell... |
ORPHA:361 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hemiplegia/hemiparesis, Gait disturbance, Weight loss |
ORPHA:183 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity, Fa... |
ORPHA:1934 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Optic disc coloboma, Weight loss |
ORPHA:92050 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Xfe Progeroid Syndrome |
|
Cachexia, Poor coordination, Optic atrophy, Failure to thrive, Attenuation of retinal blood vessels |
OMIM:610965 |
Poems Syndrome |
|
Papilledema, Paresthesia, Hyperesthesia, Weight loss |
ORPHA:2905 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Abnormal optic nerve morphology, Weight loss |
ORPHA:679 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Hypert... |
OMIM:615846 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cachexia, Cryptorchidism, Hypertonia, Chiari malformation |
ORPHA:3380 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Aganglionic megacolon, Weight loss |
ORPHA:95427 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Azoospermia,... |
ORPHA:2072 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Alveolar Echinococcosis |
|
Hemiparesis, Ataxia, Weight loss |
ORPHA:284 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Facial palsy, Cachexia, Optic atrophy, Optic nerve compression, Slender build |
ORPHA:1328 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood... |
ORPHA:447 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:217346 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Small for gestational age, Cerebellar vermis hypoplasia, Tremor, Decreased acti... |
OMIM:220111 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Distal sensory impairment, Weight loss, Slender build |
OMIM:603041 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Weight loss |
ORPHA:251071 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size |
ORPHA:813 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, C... |
ORPHA:649 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Cachexia |
OMIM:175500 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Weight loss |
ORPHA:465508 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss, Primary testicular failure, Abnormal testis morphology, Oligozoospermia |
ORPHA:85450 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Simple Cryoglobulinemia |
|
Paresthesia, Spontaneous pain sensation, Weight loss |
ORPHA:91139 |
Brucellosis |
|
Small for gestational age, Abnormality of the peripheral nervous system, Orchitis, Chorea, Weight... |
ORPHA:1304 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Weight loss |
ORPHA:400 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Schwartz-Jampel Syndrome |
|
Cachexia, Blepharospasm, Hypertonia, Gait disturbance, Decreased body weight, Testicular torsion,... |
ORPHA:800 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... |
ORPHA:85443 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:199299 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Weight loss |
OMIM:608710 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Mucolipidosis Type Ii |
|
Inability to walk, Weight loss |
ORPHA:576 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Hermansky-Pudlak Syndrome |
|
Weight loss, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79430 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia |
ORPHA:1969 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:71273 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal optic nerve morphology, Cachexia |
ORPHA:109 |
Granulomatosis With Polyangiitis |
|
Hemiplegia, Retinopathy, Weight loss |
ORPHA:900 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:95409 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Multiple Myeloma |
|
Paresthesia, Weight loss |
ORPHA:29073 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Retinal pigment epithelial mottling, Weight loss, Pigmentary retino... |
OMIM:219800 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Weight loss |
ORPHA:50918 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
Postinfectious Vasculitis |
|
Retinal vasculitis, Weight loss, Orchitis, Abnormality of the peripheral nervous system |
ORPHA:48435 |
Addison Disease |
|
Failure to thrive, Orthostatic hypotension, Primary testicular failure, Weight loss |
ORPHA:85138 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss, Decreased circulating carnitine concentration |
ORPHA:3337 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Fanconi Anemia |
|
Aganglionic megacolon, Cryptorchidism, Weight loss, Azoospermia, Abnormal testis morphology, Abse... |
ORPHA:84 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Abnormal optic nerve morphology, Weight loss |
ORPHA:79078 |
Stickler Syndrome |
|
Retinal detachment, Cachexia, Hemiplegia/hemiparesis, Abnormal vitreous humor morphology, Slender... |
ORPHA:828 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Sarcoidosis, Susceptibility To, 1 |
|
Chorioretinitis, Optic neuropathy, Weight loss |
OMIM:181000 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Parathyroid Carcinoma |
|
Testicular neoplasm, Weight loss |
ORPHA:143 |
Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Nocardiosis |
|
Chorioretinitis, Weight loss |
ORPHA:31204 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Shuffling gait, Weight loss |
ORPHA:740 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Marfan Syndrome |
|
Retinal detachment, Slender build, Cachexia |
ORPHA:558 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Ppoma |
|
Weight loss |
ORPHA:97278 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Testicular neoplasm, Cachexia, Retinal hamartoma, Retinal no... |
ORPHA:744 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss |
ORPHA:90794 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Grfoma |
|
Weight loss |
ORPHA:97261 |
Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
Vipoma |
|
Weight loss |
ORPHA:97282 |
Glucagonoma |
|
Weight loss |
ORPHA:97280 |
Multiple Endocrine Neoplasia Type 1 |
|
Cranial nerve compression, Weight loss |
ORPHA:652 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
Sarcoidosis |
|
Facial palsy, Weight loss |
ORPHA:797 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss |
ORPHA:99889 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Cerebellar hypoplasia, Dandy-Walker malformation, Cerebellar agenesis |
OMIM:617967 |