Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... |
OMIM:615625 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... |
ORPHA:95434 |
Spinocerebellar Ataxia Type 23 |
|
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... |
ORPHA:101108 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... |
ORPHA:101010 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Dystonia, Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chore... |
OMIM:618093 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Apraxia, Broad-based gait, Diffuse cerebral atrophy, Ataxia, Urinary incontin... |
OMIM:607136 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Aggressive behavior, Gait ataxia, Lower limb hyp... |
OMIM:618369 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, ... |
OMIM:213200 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Apraxia, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gait disturbance, Shuffli... |
OMIM:221820 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... |
OMIM:606777 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... |
ORPHA:71277 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... |
ORPHA:284332 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb ... |
ORPHA:300605 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal a... |
ORPHA:85278 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... |
ORPHA:157941 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Urinary incontinence, Aggressive behavior, Babinski sign, Cerebral atrophy, Inap... |
OMIM:221770 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Huntington Disease |
|
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... |
ORPHA:399 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Gait disturbance, Dyst... |
ORPHA:98934 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tre... |
ORPHA:363717 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... |
ORPHA:401820 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor,... |
ORPHA:98764 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Hand tremor, Tetraplegia, Degeneration of anterior horn cells, Gait disturba... |
OMIM:604484 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Aggressive behavior, Tremor, Hypogonadism, Myoclonus, Dysphagia, Cerebral corti... |
ORPHA:97229 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Manganese Poisoning |
|
Dystonia, Postural tremor, Decreased female libido, Akinesia, Aggressive behavior, Hypersexuality... |
ORPHA:306682 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus... |
OMIM:615924 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia |
OMIM:615041 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased testicular size, Overweight, Tremor, Hyperkinetic movements, Gait disturbance, Upper li... |
ORPHA:457240 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Cer... |
OMIM:225753 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... |
ORPHA:453521 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Limb dystonia, Parkinsonism, Impulsivity, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Spas... |
ORPHA:216873 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Brady... |
ORPHA:248111 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy, Difficulty walking, Paralysis |
OMIM:613710 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Cere... |
OMIM:300894 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Inappropriate behavior, Disi... |
OMIM:168605 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasc... |
OMIM:109150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Bradykinesia, Urinary urgency, Gait disturbance... |
OMIM:168601 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Unsteady gait, Secondary amenorrhea, Primary amenorrhea, Gait di... |
OMIM:603896 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Spastic/hyperactive blad... |
ORPHA:411602 |
Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Glios... |
ORPHA:683 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Paralysis, Respiratory paralysis, Failure to thrive, Elevated urinary delta-ami... |
OMIM:612740 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tr... |
OMIM:607454 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic ... |
OMIM:616719 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi... |
OMIM:616127 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... |
ORPHA:204 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Ce... |
OMIM:617435 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Hepatosplenomeg... |
ORPHA:2590 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Self-mutil... |
OMIM:616269 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Limb fasciculations, Spastic parapa... |
OMIM:615157 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervous system, Cerebral corti... |
OMIM:614959 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Rigidity, Babinski sign, Astrocytosis, I... |
OMIM:600795 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Macrogyria, Titubation, Gliosis,... |
ORPHA:280210 |
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 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Hemimegalencephaly |
|
Hemiparesis, Gray matter heterotopia, Gliosis, Myoclonus, Pachygyria, Polymicrogyria, Abnormal ne... |
ORPHA:99802 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations |
OMIM:608030 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Spasticit... |
ORPHA:225154 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Abnormal medullary pyra... |
ORPHA:79243 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, Ba... |
OMIM:603218 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Butyrylcholinesterase Deficiency |
|
Abnormality of the liver, Paralysis |
ORPHA:132 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Paralysis, Cerebral atrophy, Oral-pharyngeal dysphagia |
OMIM:616286 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Tremor, Splenomegaly, Rigidity, Dystonia, Loss of ambulation, Thr... |
OMIM:615010 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... |
OMIM:117360 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Difficulty walking, Paralysis |
OMIM:605285 |
Pick Disease Of Brain |
|
Polyphagia, Disinhibition, Inappropriate laughter, Gliosis, Neuronal loss in central nervous syst... |
OMIM:172700 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... |
OMIM:616795 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Simplified gy... |
OMIM:619470 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... |
ORPHA:247234 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal... |
ORPHA:391417 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Anorexia, Weight loss |
ORPHA:52416 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Decreased li... |
OMIM:614877 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Hep... |
ORPHA:845 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Simplified gyral pattern, Cerebral atrophy, Hypert... |
OMIM:615095 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para... |
OMIM:169500 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Hyperton... |
OMIM:619738 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas... |
ORPHA:702 |
Leigh Syndrome |
|
Ataxia, Hepatocellular necrosis, Gliosis, Dystonia, Spasticity, Failure to thrive |
OMIM:256000 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Involuntary movements, ... |
ORPHA:48818 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Gliosis |
OMIM:613002 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Inability to walk, Cerebral atrophy, Hypertonia, Spastici... |
OMIM:616801 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:1532 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Tremor, Inability to walk, Tongue thrustin... |
ORPHA:3095 |
Supranuclear Palsy, Progressive, 1 |
|
Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Cerebral cort... |
OMIM:312750 |
X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Neurogenic bladder, Incoordination, Aggressive behavior, Paralysis, Paraparesis, P... |
ORPHA:43 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... |
ORPHA:352403 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, ... |
OMIM:619847 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Self-mutilation |
ORPHA:52503 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Cachexia, Portal hypertension... |
ORPHA:824 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hyp... |
OMIM:612936 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Abnormal... |
ORPHA:905 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Neurogenic ... |
ORPHA:276244 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosi... |
OMIM:612126 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Spasticity, Cerebral cortical atrophy |
OMIM:300983 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Diffi... |
ORPHA:330050 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperacti... |
OMIM:234200 |
Whipple Disease |
|
Hepatomegaly, Ataxia, Anorexia, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pyr... |
ORPHA:3452 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical atrophy, Ce... |
ORPHA:33445 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Restless legs, Postural tremor, Inability to walk by childhood/adolescence, Vocal cord paralysis,... |
ORPHA:99947 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Dystonia, Facial-lingual fascic... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Neurogenic bladder, Dystonia, Facial-lingual fascic... |
ORPHA:276241 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ... |
ORPHA:101070 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Hepatic steatosis, Gliosis |
OMIM:615119 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hepatomegaly, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Lethar... |
OMIM:604377 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Cln5 Disease |
|
Cerebellar atrophy, Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, ... |
ORPHA:228360 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... |
OMIM:609454 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Thrombocytopenia, Copper accumulation in liver, Cer... |
OMIM:614946 |
Classic Galactosemia |
|
Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryptorchidism... |
ORPHA:79239 |
Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Rabies |
|
Vocal cord paresis, Attention deficit hyperactivity disorder, Cerebral palsy, Anorexia |
ORPHA:770 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:248500 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Cer... |
OMIM:618321 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Paralysis |
ORPHA:90064 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... |
ORPHA:298 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Brain atrophy, Bruxism, Spasti... |
OMIM:618718 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal p... |
ORPHA:363400 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait... |
ORPHA:93952 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Myoclonus... |
OMIM:159950 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Spasticity |
OMIM:609260 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypopla... |
OMIM:277470 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Slurred speech, Impaired v... |
ORPHA:137898 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po... |
OMIM:300623 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Lymphade... |
ORPHA:100024 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cogwheel rigidity, Diff... |
ORPHA:98772 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellu... |
ORPHA:391 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Spasticity, Pa... |
ORPHA:168486 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neuronal loss... |
OMIM:604218 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Limb ataxia, Gait ataxia, ... |
OMIM:208920 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Flynn-Aird Syndrome |
|
Ataxia, Cerebral cortical atrophy, Cachexia |
ORPHA:2047 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Dystonia, Reduction of oligodendr... |
OMIM:312080 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Ataxia, Clonus, Tremor, Splenomegaly,... |
OMIM:615673 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athetosis, Abno... |
ORPHA:280219 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Gait ataxia... |
OMIM:137440 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Postural tremor, Splenomegaly, Micronodular cirrhosis, ... |
OMIM:301072 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Abnormality of the liver, Spasticity... |
OMIM:614307 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Uns... |
OMIM:183090 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Hypoplasia of penis, Cachexia, Aggressive behavior, Tremor, Obes... |
ORPHA:85293 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... |
OMIM:261640 |
Variegate Porphyria |
|
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Paralysis, Porphyr... |
OMIM:176200 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Anorexia, Splenomegaly, Anemia |
ORPHA:2930 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Cerebral atrop... |
ORPHA:329284 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem |
ORPHA:99852 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Gliosis, Neutropenia, Ataxia, Renal tubular dy... |
ORPHA:506 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Bab... |
OMIM:607694 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Ataxia, Methylmalonic aciduria |
ORPHA:1933 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Simplified gyral pattern |
OMIM:618328 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Chudley-Mccullough Syndrome |
|
Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:604213 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Ataxia, Abnormal testis morphology, Tremor, Decreased... |
ORPHA:100 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Gliosis, Hepatomegaly, Micronodular cirrhosis, Athetosi... |
ORPHA:404454 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Anemia |
ORPHA:75233 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,... |
OMIM:183086 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturbance, Aplasia/Hy... |
ORPHA:1192 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Obsessive-compulsive tr... |
ORPHA:544254 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Dysdiadoc... |
ORPHA:289494 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal loss in central ... |
OMIM:614498 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic... |
OMIM:616840 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Majeed Syndrome |
|
Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Congenital hypoplastic anemia, Splenomega... |
ORPHA:77297 |
Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Diff... |
ORPHA:98897 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Neurodeg... |
OMIM:214150 |
Japanese Encephalitis |
|
Neutrophilia, Weakness due to upper motor neuron dysfunction, Dystonia, Anorexia, Paralysis, Pauc... |
ORPHA:79139 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Cachexia, Babinski sign, Dystonia, Spasticity |
OMIM:618186 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Cerebral atrophy, Dysphagia, Choreoathetosis, Cerebellar hypoplasia, Br... |
OMIM:619422 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Weight loss, Opisthotonus, Tip-toe gait, Gait disturbanc... |
ORPHA:216866 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Gait disturbance, Cachexia, Proteinuria |
ORPHA:2774 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Urinary incontinence... |
OMIM:617193 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Dystonia, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia,... |
OMIM:168600 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Attention deficit hyperacti... |
OMIM:619556 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Inability to walk, Glutaric acid... |
ORPHA:26791 |
Congenital Myopathy 9A |
|
Tongue fasciculations, Obesity, Akinesia, Cryptorchidism |
OMIM:618822 |
Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Global brain a... |
OMIM:612953 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG ... |
OMIM:209950 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:615181 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Head titubation, Vestibular areflexia, Spastic tetraplegia, Hypochromic... |
ORPHA:3240 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Pancytopenia, Ataxia, Recurrent myoglobinuria, Prot... |
OMIM:607426 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia |
OMIM:612016 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dysphagia, Lethargy, Limb hy... |
OMIM:233910 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Restlessness, Hepatomegaly, Involuntary movements, Oral-pharyngeal... |
OMIM:615273 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Tr... |
OMIM:618249 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Lissencephaly, Gliosis, Micropenis, Pachygyria, Decreased testicular size |
OMIM:300215 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Abnormal cerebellar peduncle morphology, A... |
ORPHA:909 |
Aredyld Syndrome |
|
Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly |
ORPHA:1133 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity |
ORPHA:88619 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Urinary incontinence, Upper limb postural tremor, Abnormal ce... |
ORPHA:458803 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Small for gestational age, Akinesia, Spastic tetraplegia, Hypochromic microc... |
OMIM:619147 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... |
OMIM:614298 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Gliosis, ... |
OMIM:607485 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Dysmetria, Gait ataxia, St... |
OMIM:616505 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Pancytopenia, Cachexia, Paralysis, Abnormality of the spleen, Thrombocytopenia,... |
ORPHA:2072 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetrapl... |
OMIM:616586 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Generalized cerebral ... |
ORPHA:36387 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Aggressive behavior, Tremor, Cryptorchidism, Simplified gyral pattern... |
OMIM:300354 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Anorexia, Weight loss |
ORPHA:2023 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Babinski sign, Hoffmann sign... |
OMIM:601162 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Severe temper tantrums, Aggressive behavior... |
OMIM:617710 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Oral-pharyngeal dysphagia |
OMIM:616287 |
Renpenning Syndrome |
|
Hypospadias, Decreased testicular size, Cachexia |
ORPHA:3242 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Nephropathy |
ORPHA:87876 |
Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Hepatomegal... |
ORPHA:191 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Broad-based gait, Gait ataxia, Steppage gait, Difficulty walking, Loss of ambulation, Vocal cord ... |
OMIM:614895 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Thrombocytopenia, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Opis... |
OMIM:608013 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal s... |
OMIM:614381 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Spastic diplegia, Opisthotonus, Ankle ... |
ORPHA:206436 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Lar... |
ORPHA:2388 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... |
OMIM:312170 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Focal segmental glomerulosclerosis, Neurodegeneration, Gliosis, Spasticity, N... |
OMIM:616239 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Dysphagia,... |
ORPHA:75567 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Self-injurious behavior, Spastic tetraplegia, Cachexia |
ORPHA:371364 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology |
ORPHA:411493 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Shyness, Aggressive behavior, Tremor, Cryptorchidism, Spasticity, ... |
OMIM:300978 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Dystonia, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Dysph... |
OMIM:617664 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Agitation, Neurodegeneration, Spa... |
ORPHA:803 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
Snakebite Envenomation |
|
Paralysis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Acute kidney i... |
ORPHA:449285 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Tremor, Splenomegaly, Hypogonadism, Lethargy, Fai... |
OMIM:201100 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Ataxia, Anorexia, Cachexia, Splenomegaly, Leukopenia, Urinary retent... |
ORPHA:1328 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysplasia |
OMIM:616531 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Neuroferritinopathy |
|
Abnormal dentate nucleus morphology, Caudate atrophy, Resting tremor, Dystonia, Writer's cramp, P... |
ORPHA:157846 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hemolytic anemia, H... |
OMIM:619487 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, T lymphocytopenia, Hypoplasia of the thymus, Decreased circulating IgG l... |
OMIM:208900 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Olivopontocerebellar hypoplasia, ... |
ORPHA:370959 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... |
ORPHA:309854 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hypoplasia of the brainstem, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Cerebellar dysp... |
OMIM:613155 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Increased body weight, Agitation, Pancreatic islet-cell hyperplasia, Lethargy |
ORPHA:276608 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Aplasia/Hypoplasia o... |
ORPHA:99027 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Restless legs, Impulsivity, Tremor, Rigidity, Bradykinesia, Male sexua... |
ORPHA:2828 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Pontocerebellar atroph... |
OMIM:608799 |
Poliomyelitis |
|
Anorexia, Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Agitation, Fascicula... |
ORPHA:2912 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Impaired T cell function, Pure red cell a... |
OMIM:613179 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:613612 |
Charcot-Marie-Tooth Disease Type 4A |
|
Inability to walk, Unsteady gait, Poor gross motor coordination, Poor fine motor coordination, Vo... |
ORPHA:99948 |
Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
Typhoid |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy |
ORPHA:99745 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Agenesis of cerebellar vermis, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hy... |
OMIM:613153 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia |
ORPHA:444051 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... |
ORPHA:646 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Tick-Borne Encephalitis |
|
Speech apraxia, Elevated hepatic transaminase, Abnormal medulla oblongata morphology, Incoordinat... |
ORPHA:297 |
Rhabdoid Tumor |
|
Cerebral palsy, Weight loss, Hematuria, Anemia, Lymphadenopathy, Neoplasm of the liver, Hemiplegi... |
ORPHA:69077 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
African Trypanosomiasis |
|
Urinary incontinence, Tremor, Choreoathetosis, Hepatomegaly, Abnormal central motor function, Par... |
ORPHA:3385 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... |
ORPHA:37042 |
Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Aggressive behavior, Tremor, Inabi... |
ORPHA:86309 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Tremor, Brain atrophy, Bruxism, Attention defic... |
OMIM:618342 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Cerebellar vermis hypo... |
ORPHA:1454 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Bone-marrow foam cells, Renal salt... |
ORPHA:275761 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... |
ORPHA:65682 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Broad-based gait, Axonal degeneration, Vocal cord paralysis |
OMIM:615490 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dandy... |
ORPHA:163961 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Cerebellar... |
ORPHA:370997 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Corpus callosum atrophy, Splenom... |
OMIM:261515 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Hyperactivity, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes... |
ORPHA:98794 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ... |
OMIM:615512 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology |
ORPHA:280195 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:2198 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Cerebral atrophy, Dysphagia, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Central Diabetes Insipidus |
|
Anorexia, Weight loss, Lethargy, Polydipsia, Failure to thrive, Nocturia |
ORPHA:178029 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Vesicoureteral reflux, Weight loss, Lower limb hyper... |
ORPHA:3208 |
Holocarboxylase Synthetase Deficiency |
|
Ataxia, Anorexia, Weight loss, Organic aciduria, Lethargy, Thrombocytopenia |
ORPHA:79242 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Abnormal cerebellum morphology, Vocal cord paralysis, Truncal ataxia, Clumsiness, Ankle c... |
OMIM:211530 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Ataxia, Dysmetria, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Cholangitis, Microvesicular hepatic st... |
OMIM:124000 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady ga... |
OMIM:254900 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Abnormal brainstem morpholog... |
ORPHA:98755 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... |
OMIM:214500 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Decreased circulating antibody level, Leukopenia, Failur... |
ORPHA:33355 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar vermis hypoplasia, Tremor, Dysmetria, Renal cyst, Hepatic fibrosis, Decreased circulat... |
OMIM:212065 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Cere... |
OMIM:222300 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Anorexia, Paralysis, Paraparesis, Jaundice, Hepatitis, Hematuria, ... |
ORPHA:319251 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Ab... |
ORPHA:247585 |
Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Cerebral palsy, Paralysis, Dysphagia |
ORPHA:230800 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blepharospasm, Hyperkinetic m... |
ORPHA:93958 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Dystonia, Tremor, Splenomegaly, Unsteady gait, Hepatosplenomegaly, ... |
ORPHA:354 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic ... |
ORPHA:284 |
Gitelman Syndrome |
|
Salt craving, Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Enuresis, Hypocalciuria, Poly... |
OMIM:263800 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia |
OMIM:615960 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Dysdiadocho... |
OMIM:617675 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... |
ORPHA:400 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepat... |
ORPHA:98850 |
Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Self-injurious behavior, Gliosis, Cerebellar hypoplasia, Vesicouretera... |
ORPHA:261652 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Hepatomegaly, Elevated hepat... |
OMIM:615356 |
Microsporidiosis |
|
Brain abscess, Cholangitis, Anorexia, Cachexia, Abnormality of the spleen, Lymphadenitis, Urethri... |
ORPHA:2552 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... |
OMIM:610965 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, Le... |
OMIM:616271 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u... |
OMIM:252150 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Ataxia, Thrombocytosis, Anorexia, Leukocytosis, Weight loss, Agitation, ... |
ORPHA:134 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Unsteady gait, Impaired tandem gait, Loss of ambulation, Vocal cord paresis, Frequent falls |
ORPHA:101097 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... |
ORPHA:812 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria,... |
OMIM:252160 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Congenital Myopathy 15 |
|
Waddling gait, Vocal cord paralysis |
OMIM:620161 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Midline brainstem cleft |
OMIM:617542 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss, Urinary retention, Myoclonus, Dysphagia, Neuronal loss in central nervous sy... |
OMIM:600072 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Cachexia, Anorexia |
OMIM:175500 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Periodic... |
OMIM:276700 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Ataxia, Thrombocytosi... |
ORPHA:20 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Polydipsia, Weight loss |
ORPHA:30925 |
Chronic Hiccup |
|
Weight loss, Abnormal eating behavior |
ORPHA:396 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Diaphragmatic paralysis, Urinary retention, Dysphagia |
ORPHA:228371 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:79279 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:42642 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Ataxia, Ketonuria, Hypospadias, Small for gestational age, Tremor, ... |
OMIM:220111 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Sple... |
ORPHA:53035 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Cerebellar vermis atrophy, ... |
OMIM:617988 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Splenomegal... |
ORPHA:465508 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Tremor, Incr... |
ORPHA:263455 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Medullary Thyroid Carcinoma |
|
Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations |
ORPHA:682 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Decr... |
ORPHA:217260 |
Angelman Syndrome |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t... |
ORPHA:72 |
Isaacs Syndrome |
|
Fasciculations, Weight loss |
ORPHA:84142 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega... |
ORPHA:699 |
Glioblastoma |
|
Glioblastoma multiforme, Paralysis |
ORPHA:360 |
Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralysis, Respiratory paralysis, Urinary retention, Hepatocellula... |
OMIM:176000 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis |
OMIM:607706 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hem... |
OMIM:618325 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Decreased fertility, Fasciculations, Dysphagia, Testicular atrophy |
OMIM:313200 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Impaired social interactio... |
ORPHA:1942 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Tremor, Splenomegaly, Lymphadenopathy, Abnormal lymp... |
ORPHA:3162 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism, Aggressive behavior |
OMIM:606688 |
Mirage Syndrome |
|
Hypospadias, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Paraplegia, Leukop... |
OMIM:617053 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Ataxia, Cachexia |
ORPHA:220295 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Akinesia |
OMIM:619334 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Cryptorchidism, Obesity, Decreased testicula... |
ORPHA:813 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly... |
ORPHA:94080 |
Schwartz-Jampel Syndrome |
|
Cachexia, Abnormality of the ureter, Nephrolithiasis, Blepharospasm, Hypertonia, Gait disturbance... |
ORPHA:800 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Polymicrogyria, Dandy-Walker malformation, Cerebellar hypoplasia, Akinesia |
OMIM:225790 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis,... |
OMIM:300868 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Cholestatic liver disease, H... |
ORPHA:79095 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Unsteady gait, Difficulty walking, Dysphagia, Vocal cord paresis |
ORPHA:600 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Limb dystonia, Cerebellar vermis hypoplasia, Ataxia... |
ORPHA:572798 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis |
OMIM:162500 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Aggressive behavior... |
OMIM:617799 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Akinesia |
OMIM:607598 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Akinesia, Acanthocytosis, Hand tremor, Hypertonia, Poikilocytosis, Dystonia, M... |
OMIM:618947 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Nephrotic range proteinuria, Tremor, Oromotor apraxia, Failure to ... |
ORPHA:300536 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Hydronephrosis, Cerebel... |
OMIM:620327 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... |
ORPHA:54251 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Leth... |
OMIM:143880 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... |
ORPHA:167 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Tremor, Neoplasm of the gallbladder, Abnormal gallb... |
ORPHA:512 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, Hypospadias, Unilateral renal agenesis, Aggressive behavior, Small for ... |
ORPHA:268261 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Congenital Myopathy 12 |
|
Small for gestational age, Akinesia |
OMIM:612540 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia |
OMIM:612164 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... |
ORPHA:144 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Fetal Akinesia Deformation Sequence |
|
Cryptorchidism, Dandy-Walker malformation, Akinesia |
ORPHA:994 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar... |
OMIM:146500 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Dystonia, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Dysphagia,... |
ORPHA:500144 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia, Paralysis |
OMIM:612300 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Ataxia, Reticulocytosi... |
ORPHA:713 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Tremor, Splenomegaly, Jaundice, Neutr... |
ORPHA:525731 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Corpus callosum atrophy, Abnormal cerebellum morphology, Tremor, Babinski s... |
ORPHA:447753 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Small for gestational age, Oral-pharyngeal dysphagia, Tremor, Cryptorchidism, Glio... |
ORPHA:506358 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Paralysis, Nephrolithiasi... |
ORPHA:18 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, Cachexia, Abnormality of neuronal migratio... |
ORPHA:647 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Lymphadenopathy, Dysphagia |
ORPHA:142 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo... |
ORPHA:90003 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Hemiplegia/hemipare... |
ORPHA:440437 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Elevated hepatic transaminase, Ataxia, Tremor, Rigidity, Gait... |
ORPHA:254892 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic ... |
ORPHA:199351 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... |
ORPHA:101330 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Failure to thrive, Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal... |
ORPHA:3008 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Brain atroph... |
OMIM:617186 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia |
OMIM:611560 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Glutaric... |
ORPHA:25 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia, Paralysis |
ORPHA:83601 |
Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Weight loss, Dysphagia, Slender build, Allodynia |
OMIM:603041 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Frequent falls, Inability to walk, Gait ataxia, Tongue fasciculations, Diffic... |
ORPHA:99949 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Weight loss, Iron deficiency anemia, In... |
OMIM:212750 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Anorexia, Pancreatitis, Jaundice, Weight los... |
ORPHA:370348 |
Wilson Disease |
|
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Aminoaciduria, Limb dystoni... |
OMIM:277900 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Paralysis, Obesity, Tetraplegia, Weight loss, Urinary retent... |
ORPHA:79102 |
Trisomy 18 |
|
Cachexia, Cryptorchidism, Hypertonia, Chiari malformation, Hydronephrosis |
ORPHA:3380 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Increased body weight, Lethargy, Polyphagia |
ORPHA:97279 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Tremor, Atrophy of the spinal cord, Increased circulating antibody level, Fascicula... |
ORPHA:99965 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Aicardi-Goutieres Syndrome 7 |
|
Generalized lymphadenopathy, Hypertonia, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Hepat... |
OMIM:615846 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Cerebellar dysplasia |
OMIM:601374 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Thro... |
OMIM:251100 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Vocal cord paralysis, Poor fine motor coordination, Tip-toe gait, Diff... |
ORPHA:99956 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Abnormal brainstem MRI signal intensity |
ORPHA:320365 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weight loss... |
ORPHA:514 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Vocal cord paralysis, Obesity, Tip-toe gait, Gait disturbance |
ORPHA:98853 |
Gm1-Gangliosidosis, Type Iii |
|
Slurred speech, Ataxia, Dystonia |
OMIM:230650 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypocellularity, Ne... |
ORPHA:47612 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Ataxia, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, ... |
ORPHA:478 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Hematuria, Leu... |
ORPHA:520 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody... |
ORPHA:90362 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss |
ORPHA:33276 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Hyperlysinemia |
|
Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuri... |
ORPHA:2203 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Cerebellar dysplasia |
ORPHA:8 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Scrub Typhus |
|
Renal insufficiency, Tremor, Splenomegaly, Lymphadenopathy, Lethargy |
ORPHA:83317 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Lower limb spasticity, Renal insufficiency, Hepatomegaly, Ataxia, ... |
ORPHA:90321 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Bruxism, Dysphagia, Enuresis noctu... |
OMIM:615873 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Tremor, Gait disturbance, Oculomotor a... |
ORPHA:220497 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Retroperitoneal fibrosis, Ab... |
ORPHA:35687 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Aggressive behavior, Oral-pharyngeal dysphagia, Impulsivity, Tremor, ... |
ORPHA:2131 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Proteinuria, Eosinophilia, Hemiplegia/hemiparesis, Weight loss, Central nerv... |
ORPHA:183 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Abnormal pyramidal sign, Hypertonia, Loss of ambulation, Hepatomegaly, Hyperactivity... |
ORPHA:581 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:276621 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Brucellosis |
|
Liver abscess, Anorexia, Chorea, Leukopenia, Increased circulating IgG level, Abnormality of the ... |
ORPHA:1304 |
Polymyositis |
|
Hepatomegaly, Gait disturbance, Anorexia, Weight loss |
ORPHA:732 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Anemia, Weight loss |
ORPHA:1842 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis |
OMIM:267200 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance... |
ORPHA:475 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Hepatitis,... |
ORPHA:781 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Dysphagia |
ORPHA:684 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Peritonitis, Weight loss, Menorrhagia |
ORPHA:168816 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss |
ORPHA:26790 |
Attrv30M Amyloidosis |
|
Nephropathy, Impotence, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Salt craving, Proteinuria, Urinary incontinence, Decreased urinary pota... |
ORPHA:358 |
12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Tremor, Abnormality of the spleen, Renal hypoplasia, Horseshoe kidney, Chiari mal... |
ORPHA:94063 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Urinary incontinence, Tremor, Inability to walk, Atrophy of the spinal cord, ... |
ORPHA:466768 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Throm... |
ORPHA:50918 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Thrombocytopenia, Hematuria, Hypoplastic spleen, Anemia |
OMIM:185070 |
Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Failure to thrive, Hypoplastic spleen |
OMIM:602361 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Ataxia, Splenomegaly, Spastic tetraplegia, Cerebral atrophy, Gait disturbance, Sea-... |
OMIM:230600 |
Inhalational Botulism |
|
Urinary retention, Paralysis |
ORPHA:254504 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Arnold-Chiari Malformation Type I |
|
Urinary incontinence, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiari type I malformatio... |
ORPHA:268882 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Dysphagia |
OMIM:150260 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Weight loss, Progressive gait at... |
OMIM:607459 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Anorexia, Jaundice, Extrahepatic choles... |
ORPHA:1333 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Howell-Jolly bodies, Weight loss, Nephrotic syndr... |
ORPHA:85443 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Glossopharyngeal Neuralgia |
|
Chiari type I malformation, Weight loss, Vocal cord paralysis, Oral-pharyngeal dysphagia |
ORPHA:221098 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia, Anorexia, He... |
ORPHA:199299 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Steppage gait |
OMIM:601152 |
Giant Cell Arteritis |
|
Renal insufficiency, Ataxia, Anorexia, Mediastinal lymphadenopathy, Weight loss, Hematuria, Hepat... |
ORPHA:397 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Brain atro... |
OMIM:616539 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hyperactivity, Pachygyria, Tremor, Spasticity, Chor... |
ORPHA:1934 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Weight loss, Enuresis nocturna, Decreased circulating total ... |
ORPHA:420741 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Renal hypoplasia, Renal tubular dysfunction,... |
ORPHA:37553 |
Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Weight loss... |
ORPHA:449400 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of the brainstem, Dysgenesis of th... |
OMIM:608091 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acidosis, Periodic hypokal... |
OMIM:259730 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Takayasu Arteritis |
|
Anemia, Anorexia, Weight loss |
ORPHA:3287 |
Alkuraya-Kucinskas Syndrome |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Dandy-Walker malformation, ... |
OMIM:617822 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... |
ORPHA:91347 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Mono... |
ORPHA:91139 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Hepatiti... |
ORPHA:139402 |
Norrie Disease |
|
Clonus, Cachexia, Cryptorchidism, Self-injurious behavior, Hypertonia, Attention deficit hyperact... |
ORPHA:649 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:29072 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology |
ORPHA:2720 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Dystonia, Neonatal alloimmune th... |
ORPHA:51 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Diaphanospondylodysostosis |
|
Horseshoe kidney, Abnormal liver lobulation, Polymicrogyria, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Dysphagia, Weight loss, Brain atrophy, Difficulty walking |
OMIM:164310 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Leukocytosis, Weight loss, Dysphagia, Anemia |
ORPHA:2070 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100080 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
Joubert Syndrome 1 |
|
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplasia, Hypoplasia of t... |
OMIM:213300 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Anorexia, Weight loss |
ORPHA:1302 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Dandy-Walker malformation, Atrophy/Degeneration... |
ORPHA:356961 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Ethylmalonic Encephalopathy |
|
Abnormal brainstem MRI signal intensity |
ORPHA:51188 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Multiple renal cysts, Abnormal l... |
ORPHA:99776 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Tremor, Schistocytosis... |
OMIM:274150 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Thrombocytopenia, Media... |
ORPHA:160 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Adult Krabbe Disease |
|
Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology |
ORPHA:206448 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia |
ORPHA:79076 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Ataxia, Proteinuria, Tremor, Thrombocytopenia, Splenomegaly, Hemipleg... |
ORPHA:355 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Increased circulating IgG level, Cho... |
ORPHA:449395 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hepatomegaly, Renal insufficiency, Ataxia, Proteinuria, Tremor, Splenomegaly,... |
OMIM:216400 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
Proteus Syndrome |
|
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Long pen... |
ORPHA:744 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Anorexia, Renovascular hypertension, Renal tubul... |
ORPHA:49041 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Increased circulating IgE level, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Cholestasis, Weight loss |
ORPHA:95427 |
Listeriosis |
|
Brain abscess, Liver abscess, Ataxia, Abscess, Tremor, Jaundice, Peritonitis, Abnormal cellular i... |
ORPHA:533 |
Microphthalmia, Syndromic 9 |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Multilobulated spleen, Hypoplastic spleen, Pe... |
OMIM:601186 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Failure to thrive, Ketonuria, Ataxia, Weight loss, Renal tubular dysfunction, Glycosuria... |
ORPHA:99885 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:33577 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
Behçet Disease |
|
Renal insufficiency, Ataxia, Anorexia, Orchitis, Splenomegaly, Abnormal pyramidal sign, Weight lo... |
ORPHA:117 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Jaundice, Cerebral atrophy, Dysphagia, 3-Methylglutaric aciduria, 3-Met... |
OMIM:617248 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dyspareunia, Dysuria, ... |
ORPHA:36426 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100082 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Vocal cord paral... |
ORPHA:64744 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Renal salt wasting, Cryptorchidism, Testicular adrenal rest tumor, Tetraplegia, Weight ... |
ORPHA:361 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss, Hepatic failure |
ORPHA:97287 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Weight loss, Decreased circulating antibody level,... |
ORPHA:29073 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Ne... |
ORPHA:97289 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss, Acute leukemia |
ORPHA:729 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Hypospadias, Failure to thrive in infancy, Streak ovary, Ependymoma, Abnormalit... |
ORPHA:798 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Weight loss, Hematuria, Anemia, Thrombocytopenia |
ORPHA:90060 |
Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weig... |
ORPHA:99867 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Weight loss |
ORPHA:2221 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100075 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Leukocytosis, Oliguria, Weight loss, Pancreatitis |
ORPHA:188 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Vocal cord paralysis, Leukopenia, Iron def... |
OMIM:619488 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Hypogonadotropic hypogonadism, Impulsivity, Shyness, Unilateral vocal cord pa... |
OMIM:301030 |
Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocy... |
ORPHA:797 |
Diets-Jongmans Syndrome |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Gliosis, Attention deficit hyperactivity disorder |
OMIM:618846 |
Marfan Syndrome |
|
Cachexia, Slender build, Attention deficit hyperactivity disorder |
ORPHA:558 |
Poems Syndrome |
|
Lymphadenopathy, Weight loss, Increased circulating antibody level, Hypogonadism, Erectile dysfun... |
ORPHA:2905 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Anorexia, Weight loss |
ORPHA:2494 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Micropenis, Failure to thrive, Gliosis |
OMIM:617403 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Follicular hyperplasia, Splenomegaly, Hepatitis,... |
OMIM:619381 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormality of body weight, Increased circulating IgA level, Increased body weight, ... |
ORPHA:2298 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia, Cachexia, Hepatomegaly |
ORPHA:75565 |
Stickler Syndrome |
|
Hemiplegia/hemiparesis, Slender build, Cachexia |
ORPHA:828 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Weight loss, Hematuria, Renal artery stenosis, Infertilit... |
ORPHA:71273 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:93256 |
Pineoblastoma |
|
Lethargy, Paralysis |
ORPHA:251909 |
Pneumocystosis |
|
Weight loss, Increased circulating antibody level, Abnormal neutrophil count |
ORPHA:723 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Urinary retention, Weight loss |
ORPHA:2126 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Hypoplasia of the brainstem, Cerebellar hypoplasia, Kinked brainstem, Cerebellar malformation, Da... |
OMIM:236670 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:444072 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iron concentratio... |
OMIM:619991 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary urgency, Vocal cord paresis, Urinary incontinence |
OMIM:606071 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Anorex... |
OMIM:181000 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Polydipsia, Weight loss |
ORPHA:95626 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Renal insufficiency, Salt craving, Decreased female libido, Anorexia, Decrease... |
ORPHA:95409 |
Williams-Beuren Syndrome |
|
Vocal cord paralysis, Chiari type I malformation, Nephrocalcinosis, Vesicoureteral reflux, Microp... |
OMIM:194050 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity |
ORPHA:444013 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Addison Disease |
|
Normocytic anemia, Salt craving, Premature ovarian insufficiency, Primary testicular failure, Ano... |
ORPHA:85138 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Hypochromic microcyti... |
ORPHA:97283 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Obesity, Weight loss, Attention deficit hyperactivity disorder |
ORPHA:251071 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Vocal cord paralysis |
OMIM:605373 |
Loeffler Endocarditis |
|
Eosinophilia, Weight loss |
ORPHA:75566 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Nephrolithi... |
ORPHA:143 |
Arima Syndrome |
|
Dilated fourth ventricle, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Brainstem ... |
OMIM:243910 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97282 |
Mucolipidosis Type Ii |
|
Splenomegaly, Inability to walk, Weight loss, Hepatosplenomegaly |
ORPHA:576 |
Postinfectious Vasculitis |
|
Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anore... |
ORPHA:48435 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Intrahepatic cholestasis, Extrahepatic cholesta... |
ORPHA:97278 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vocal cord paralysis |
OMIM:168000 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Neoplasm of the thymus, Intrahepatic cholestasi... |
ORPHA:97261 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron defic... |
ORPHA:100078 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Acute Disseminated Encephalomyelitis |
|
Abnormal brainstem MRI signal intensity, Abnormal cerebellum morphology |
ORPHA:83597 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Cerebral cortical atrophy, Anorexia, Weight loss |
ORPHA:37 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Weight loss |
ORPHA:324964 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Anorexia, Acanthocytosis, Intrahepatic cholestasis, Extra... |
ORPHA:97280 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity |
ORPHA:254930 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainstem MRI signa... |
ORPHA:68 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Ataxia, Proteinuria, Abnormality of ... |
ORPHA:79318 |
Paget Disease Of Bone 2, Early-Onset |
|
Brain stem compression |
OMIM:602080 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of reproductive system physiology, Increased body w... |
ORPHA:1501 |
Feingold Syndrome 1 |
|
Accessory spleen, Asplenia, Vocal cord paralysis, Polysplenia, Annular pancreas |
OMIM:164280 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Abnorm... |
ORPHA:84 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Anorexia, Insulinoma, Ependymoma, Nephrolithiasis, Hypercalciuria, Weig... |
ORPHA:652 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Menometrorrhagia, Anorexia, Weight loss, Neutropenia |
ORPHA:79430 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Dysp... |
ORPHA:1018 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Granulomatosis With Polyangiitis |
|
Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Weight loss, Hematuria, Granul... |
ORPHA:900 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Esophageal Atresia |
|
Small for gestational age, Failure to thrive in infancy, Hypertonia, Dysphagia, Oral aversion, Vo... |
ORPHA:1199 |
Liposarcoma |
|
Weight loss |
ORPHA:69078 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, Hepatosplenomegaly, Urinary glycosaminogl... |
ORPHA:79255 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Weig... |
ORPHA:79078 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Anorexia, Pancreatoblastoma, Neoplas... |
ORPHA:99889 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis, Weight loss, Testicular... |
ORPHA:764 |
Pancreatoblastoma |
|
Abnormal lymph node morphology, Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy |
ORPHA:258 |
Nocardiosis |
|
Brain abscess, Liver abscess, Anorexia, Lymphadenitis, Peritonitis, Weight loss, Cutaneous abscess |
ORPHA:31204 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Anorexia, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobu... |
ORPHA:91500 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormal brainstem morphology |
ORPHA:464311 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Decreased fertility, Weight loss, Hematuria, Testicular mi... |
ORPHA:60025 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Rat-Bite Fever |
|
Lymphadenitis, Pancreatitis, Anemia, Weight loss |
ORPHA:31205 |
Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss |
ORPHA:52417 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal brainstem white matter morphology |
ORPHA:139396 |
Achondroplasia |
|
Brain stem compression |
OMIM:100800 |
Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia |
ORPHA:97286 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss |
ORPHA:309031 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology |
ORPHA:314621 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypogonadotropic hypogonadism, Renal salt wasting, Abnormality of the menstrual cycle, Long penis... |
ORPHA:90794 |
Juvenile Dermatomyositis |
|
Weight loss, Dysphagia |
ORPHA:93672 |
Full Nf2-Related Schwannomatosis |
|
Brain stem compression, Abnormal cerebellum morphology |
ORPHA:637 |
Codas Syndrome |
|
Cryptorchidism, Vocal cord paresis |
OMIM:600373 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:913 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis |
ORPHA:324540 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Anorexia, Phimosis, Urinary bladder inflammation, We... |
ORPHA:99921 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Hypertonia, Cerebral degeneration |
OMIM:230500 |
Meningioma |
|
Brain stem compression, Abnormal cerebellum morphology |
ORPHA:2495 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive, Dysphagia |
ORPHA:2020 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Weight loss, Shuffling gait, Severe failure to thrive, Delayed menarche |
ORPHA:740 |
Alobar Holoprosencephaly |
|
Abnormal brainstem morphology |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal brainstem morphology |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal brainstem morphology |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal brainstem morphology |
ORPHA:220386 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia |
OMIM:253010 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:221 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... |
OMIM:233450 |
Osteogenesis Imperfecta |
|
Brain stem compression |
ORPHA:666 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology |
ORPHA:293987 |