| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Rigidity, Frontotemporal dementia, Babinski sign, Astrocytosis... |
OMIM:600795 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... |
ORPHA:401901 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Optic atr... |
ORPHA:225154 |
| Huntington Disease-Like 1 |
|
Restlessness, Incoordination, Aggressive behavior, Rigidity, Chorea, Unsteady gait, Dysmetria, De... |
OMIM:603218 |
| Spinocerebellar Ataxia 17 |
|
Chorea, Dysmetria, Gait ataxia, Gliosis, Intention tremor, Ataxia, Parkinsonism, Confusion, Depre... |
OMIM:607136 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Poor coordination, Falls, Inappropriate laughter, ... |
OMIM:619150 |
| Huntington Disease |
|
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Clums... |
ORPHA:399 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Aggressive behavior, Chorea, Torsion dyston... |
ORPHA:98811 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Depression, Bradykinesia, Frontal lobe demen... |
OMIM:221820 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Torticollis, Aggressive behavior, Gait ataxia, Depression, Lower limb hypertonia,... |
OMIM:618369 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
| Juvenile Huntington Disease |
|
Broad-based gait, Hyperactivity, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive... |
ORPHA:248111 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
| Sydenham Chorea |
|
Chorea, Unsteady gait, Irritability, Inappropriate behavior, Hemiballismus, Compulsive behaviors,... |
ORPHA:306731 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Dementia, Gait disturbance, Dysphagia, Emotional lability |
OMIM:607674 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Dysphagia, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
| Huntington Disease-Like 1 |
|
Abnormal head movements, Chorea, Dysmetria, Gait ataxia, Simultanapraxia, Gliosis, Clumsiness, De... |
ORPHA:157941 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Self-injurious behavior, Dystonia, Stereotypical hand wringing |
OMIM:618760 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Dementia, Gait disturbance, Dystonia, M... |
ORPHA:98934 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
| Sandhoff Disease, Adult Form |
|
Dystonia, Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dysphagia, Mental deterioration, S... |
ORPHA:309169 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Aggressive behavior, Babinski sign, Euphoria, Frontal lobe dementia, Memory impairment, Inappropr... |
OMIM:221770 |
| Huntington Disease |
|
Rigidity, Chorea, Depression, Bradykinesia, Gait ataxia, Gliosis |
OMIM:143100 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Oculogyric crisis, Inability to walk, Chorea, Self-injurious behavior, Hyperkinetic mov... |
OMIM:614254 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dy... |
OMIM:618317 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Astrocytosis, Dementia, Abnormality of... |
ORPHA:204 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Chorea, Depression, Hypertonia, Hype... |
OMIM:619738 |
| N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abn... |
OMIM:614063 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Impaired vibration sensat... |
ORPHA:251282 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Abnormal head movements, Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-inju... |
ORPHA:382 |
| Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance, Dementia |
OMIM:118700 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Weight loss, Dystonia, Action tremor |
OMIM:606438 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Clumsiness, Depression, Irritabili... |
ORPHA:66624 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonus, Dystonia |
OMIM:125370 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abn... |
OMIM:617672 |
| Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness, Aggressive behavior, Gait ataxia |
OMIM:618221 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreo... |
ORPHA:13 |
| Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Gliosis, Inappropriate laughter, Disinhibition... |
OMIM:172700 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Abnormal pyramidal sign, Imp... |
ORPHA:95434 |
| Spinocerebellar Ataxia Type 1 |
|
Dystonia, Postural tremor, Chorea, Impaired proprioception, Optic atrophy, Dysmetria, Slurred spe... |
ORPHA:98755 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... |
ORPHA:276435 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcorti... |
OMIM:606159 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Spastic diplegia, Choreoathetosis, Self-injurious behavior, Abnormal r... |
OMIM:617270 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Confusion, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclon... |
ORPHA:71277 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Involuntary movements, Inability to walk, Self-injurious behavior, Impaired social interactions, ... |
OMIM:617820 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast... |
OMIM:258501 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Gait disturbance, Abnormality of e... |
OMIM:614561 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Dystonia, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to ... |
ORPHA:500180 |
| Striatonigral Degeneration, Infantile |
|
Dystonia, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity, Failure to thrive |
OMIM:271930 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, ... |
OMIM:618917 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetiti... |
OMIM:617862 |
| Progressive Supranuclear Palsy |
|
Dystonia, Impulsivity, Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, ... |
ORPHA:683 |
| L-2-Hydroxyglutaric Aciduria |
|
Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Abnormality of extrapyramid... |
OMIM:236792 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Tremor, Depression, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, ... |
ORPHA:457240 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Chorea, Abnormal pyramidal sign, Gait ataxia, Opisthotonus, Hypertonia, Lethargy, Facial palsy, C... |
OMIM:607483 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Spastic tetraparesis, Aggressive behavior, Tremor, Optic atrophy... |
OMIM:619470 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations, Dysphagia |
ORPHA:85162 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Dystonia, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Opti... |
OMIM:617282 |
| Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Parkinsonism, Frontotemporal dementia, Frontal lobe dementia, Irri... |
OMIM:600274 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Tremor, Inability to walk, Inappropriate laughter, Emotional ... |
OMIM:616269 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypertonia, Gliosis, Myoclonus, Dysphagia, Spasticity |
OMIM:225753 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Spas... |
OMIM:213200 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Involuntary movements, Aggressive behavior, Agitation, Emotional lability, Abnormal repetitive ma... |
OMIM:617171 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation |
OMIM:617235 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, ... |
OMIM:619317 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Dystonia, Parkinsonism, Rigidity, Mental deterioration, Depression, Bradykinesia,... |
OMIM:168601 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Dystonia, Involuntary movements, Chorea, Athetosis, Self-injurious behavior, Hyperkinetic movemen... |
OMIM:617493 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
| Mepan Syndrome |
|
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait distur... |
ORPHA:508093 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston... |
ORPHA:300605 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Akinesia, Impulsivity, Rigidity, Mental deterioration, We... |
ORPHA:411602 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms, Optic atrophy, Spastic diplegia |
OMIM:617830 |
| Rabies |
|
Cerebral palsy, Anorexia, Depression, Paresthesia, Attention deficit hyperactivity disorder, Voca... |
ORPHA:770 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
| Hsd10 Disease |
|
Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,... |
ORPHA:391417 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Clonus, Chorea, Spastic tetraplegia, Irritability |
OMIM:613811 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Dystonia 12 |
|
Torticollis, Dystonia, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dysphagia, ... |
OMIM:128235 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, P... |
ORPHA:411515 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior, Large for gestational age, Bruxism, Spasticity |
ORPHA:356996 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gliosis... |
OMIM:604484 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Apraxia, Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abno... |
ORPHA:240103 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia... |
OMIM:261630 |
| X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dyst... |
ORPHA:53351 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
| Porphyria, Acute Hepatic |
|
Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
| Foxg1 Syndrome |
|
Dystonia, Inability to walk, Bruxism, Choreoathetosis, Hyperkinetic movements, Myoclonus, Difficu... |
ORPHA:561854 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Obesity, Limb dystonia |
OMIM:620270 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
| Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Self-injurious behavior, Hyper... |
OMIM:618218 |
| Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Orthostatic hypotension, Resting tremor, Rigidity, Depression, Bradykinesia, Demen... |
OMIM:616710 |
| Neuroferritinopathy |
|
Resting tremor, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski s... |
ORPHA:157846 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Babinski... |
OMIM:617225 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Hyperactivity, Aggressive behavior, Chorea, Unsteady gait, Depression, Pro... |
ORPHA:485350 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental... |
OMIM:615924 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Progressive neurologic deterioration, Babinski sign, Depression, Pseudobulbar paralysis, ... |
OMIM:169500 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Involuntary movements, Parkinsonism, Depression, Choreoathetosis, Dementia, Cognitive impairment,... |
OMIM:616413 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Agitation, Myoclonus, Compulsive behaviors, Dystonia, Failure to thrive |
OMIM:619651 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Dystonia 16 |
|
Limb dystonia, Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnorm... |
OMIM:612067 |
| Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
| Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, I... |
ORPHA:238455 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Hyperactivity, Broad-based gait, Resting tremor, Parkinsonism, Anorexia, A... |
ORPHA:3077 |
| Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Spastic tetraplegia, Athetosis, Self-injurious behavior, Dystonia |
OMIM:619922 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... |
ORPHA:99947 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Depression, Truncal obesity, Hyperk... |
OMIM:300957 |
| Hemimegalencephaly |
|
Optic atrophy, Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
| Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Gliosis, Clonus, Tetraplegia |
OMIM:614959 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, Emotional lability, Memory impairment, Gait disturbance, Gliosis, L... |
OMIM:603896 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Restlessness, Dystonia, Chorea, Optic atrophy, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, ... |
OMIM:277470 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocyt... |
OMIM:601104 |
| Atypical Rett Syndrome |
|
Restrictive behavior, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability... |
ORPHA:3095 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Tremor, Unsteady gait, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Ankle clonus, ... |
OMIM:617435 |
| Huntington Disease-Like 3 |
|
Psychomotor deterioration, Abnormal head movements, Broad-based gait, Extrapyramidal muscular rig... |
ORPHA:157946 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Short attention span, Ataxia, Impulsivity, Tremor, Dysmetria, Impaired tan... |
OMIM:619028 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Depression, Myoclonus, Compulsive behaviors, Dystonia, Spinal myoclo... |
ORPHA:36899 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Progressive neurologic deterioration, Inability to walk, Chorea, Dy... |
ORPHA:70472 |
| Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Decreased ... |
OMIM:164400 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... |
ORPHA:240085 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, ... |
ORPHA:71517 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Dysphagia, Intention tremor,... |
OMIM:302500 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... |
OMIM:615362 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Gliosis, Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment |
OMIM:604218 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
| Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Oral-pharyngeal dysphagia, Paralysis |
OMIM:616286 |
| Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Dystonia, Inability to walk, Chorea, Babinski sign, Im... |
ORPHA:95 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
| Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
| Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:610217 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Dementia, Tongue fasciculations, Diffi... |
OMIM:159950 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Stxbp1-Related Encephalopathy |
|
Hyperactivity, Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Kleine-Levin Syndrome |
|
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... |
ORPHA:33543 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Long eyelashes, Hypocalcemia, Low-set, posteriorly rotated ears |
ORPHA:163693 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
| Tay-Sachs Disease |
|
Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Clu... |
ORPHA:845 |
| Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Shyness, Overweight, Babinski sign, Spastic dysarthria, Difficulty walking, Dyston... |
ORPHA:280763 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... |
OMIM:609425 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Mental... |
OMIM:208920 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Short attention span, Dystonia, Parkinsonism, Chorea, Babinski sign, Gait ataxia,... |
ORPHA:225147 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Spasticity, Abnormal ... |
OMIM:618718 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Optic atrophy, Irritability, Hypertonia, ... |
ORPHA:79097 |
| Choreoathetosis, Familial Inverted |
|
Rigidity, Abnormal pyramidal sign, Dementia, Gait disturbance, Progressive choreoathetosis |
OMIM:118750 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Small for gestational age, Parkinsonism, Progressive neurologic deterioration, ... |
OMIM:261640 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Parkinsonism, Frontotemporal dementia, Astr... |
ORPHA:100070 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Difficulty walking, Spasticity, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:617393 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Abnormal pyramidal sign, Choreoathetosis, Intention tremor, Ataxia, Depre... |
OMIM:312080 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Paralysis |
OMIM:605285 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Paroxysmal choreoathetosis, Torticollis, Dysphagia |
OMIM:118800 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Depression, Gait di... |
ORPHA:98764 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Gordon Holmes Syndrome |
|
Chorea, Dementia, Ataxia |
OMIM:212840 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia |
OMIM:618501 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, Limb fasciculations, Co... |
OMIM:615157 |
| Developmental And Epileptic Encephalopathy 17 |
|
Inability to walk, Chorea, Athetosis, Dystonia |
OMIM:615473 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Progressive neurologic deterioration, Limb ataxia, Choreoathetosis, Dementia, Gait disturbance, F... |
OMIM:616230 |
| Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Sandhoff Disease, Juvenile Form |
|
Incoordination, Ataxia, Abnormal pyramidal sign, Gait disturbance, Fasciculations, Abnormality of... |
ORPHA:309162 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... |
ORPHA:401768 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Oral-pharyngeal dysphagia, Vocal cord paralysis, Distal sensory impairment |
OMIM:616287 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
| Leigh Syndrome |
|
Ataxia, Optic atrophy, Gliosis, Dystonia, Emotional lability, Spasticity, Failure to thrive |
OMIM:256000 |
| Dystonia 16 |
|
Limb dystonia, Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign... |
ORPHA:210571 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dysphagia, Lo... |
OMIM:618088 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, ... |
OMIM:233910 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Bruxism, Stereot... |
OMIM:618497 |
| Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Inability to walk, Chorea, Repetitiv... |
OMIM:300260 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Writer's cramp, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Dystonia, Inability to walk, Chorea, Hemiparesis, Self-injurious behavior, B... |
OMIM:618004 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas... |
OMIM:607596 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations, Abnormality of peripheral nerve cond... |
ORPHA:65684 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Choreoathetosis, Athetosis, Chorea, Failure to thrive |
OMIM:309541 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, Neuromuscular dysphagia, Loss of ambulation, Ataxia, Clumsiness, Impaired tactile sensati... |
ORPHA:206443 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Hemiparesis, Gliosis, Mental deterioration, Lethargy |
OMIM:613002 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Myopathy With Extrapyramidal Signs |
|
Hyperactivity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnorm... |
OMIM:615673 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Myoclonus, Difficulty walking, Attention deficit hyperactivity dis... |
OMIM:619191 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Polyphagia, Self-injurious behavior, Abnormal repetitive mannerisms, Parox... |
ORPHA:228402 |
| Nasu-Hakola Disease |
|
Chorea, Frontal lobe dementia, Irritability, Disinhibition, Oculomotor apraxia, Memory impairment... |
ORPHA:2770 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Frontotemporal dementia, Babinski sign, Disinhibition, Dysphagia, ... |
OMIM:612069 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Cerebral palsy, Slender build, Chorea, Myoclonus, Attention deficit hyperactivity ... |
OMIM:617600 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Poor coordination, Limb ataxia, Dysphagia, Self-inju... |
OMIM:617695 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand paresthesia, ... |
OMIM:162500 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Speech apraxia, Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavi... |
OMIM:613670 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Distal sensory i... |
OMIM:609260 |
| Spastic Paraplegia 70, Autosomal Recessive |
|
Ankle clonus, Somatic sensory dysfunction, Fasciculations, Spasticity |
OMIM:620323 |
| X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, ... |
ORPHA:52503 |
| Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Progressive psychomotor deterioration, Progressive gait ataxia, Decerebrate rigidity, Abn... |
ORPHA:309271 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal sensory impairment, Paralysis |
OMIM:613710 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia... |
OMIM:612716 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Abnormal pyramidal sig... |
OMIM:256600 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Limb dystonia, Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraple... |
OMIM:619847 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... |
OMIM:604802 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Gliosis, Limb hype... |
OMIM:612936 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Choreoathetosis, Irritability, Myoclonus, Failure to thrive |
OMIM:609056 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Distal sensory impairment |
OMIM:606595 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Abnormal autonomic nervous s... |
OMIM:614498 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation,... |
OMIM:607485 |
| Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... |
ORPHA:101109 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
| Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Optic atrophy, Sensory ataxia, Gait ataxia, ... |
OMIM:620221 |
| Choreoacanthocytosis |
|
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, ... |
ORPHA:2388 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Optic atrophy, Bradykinesia, Demen... |
ORPHA:329284 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at... |
OMIM:615768 |
| Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Spasticity, Delirium |
ORPHA:208441 |
| 6Q16 Microdeletion Syndrome |
|
Broad-based gait, Poor coordination, Obesity, Abnormal temper tantrums, Polyphagia |
ORPHA:171829 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Dystonia, Ataxia, Tremor, Dysmetria, Dysphagia, Loss of ambulation |
OMIM:617916 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Mental deterioration, Ataxia, Myoclonus |
OMIM:616187 |
| Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Mental deterioration, Tetraplegia, Choreoathetosis, Dystonia, Hemi... |
OMIM:614820 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax... |
ORPHA:251347 |
| Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Dysphagia, Hand tremor, Tongue fas... |
ORPHA:276198 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
| Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Cognitiv... |
OMIM:608627 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Hearing impairment, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, Gait ataxia, Irri... |
OMIM:618321 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Ch... |
OMIM:617864 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Ataxia, Irritability |
ORPHA:71518 |
| Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Obsessive-... |
OMIM:617665 |
| Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Par... |
OMIM:606693 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Truncal ataxia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebel... |
OMIM:607346 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
| Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment |
ORPHA:820 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Aggressive behavior, Tremor, Rigidity, Limb ataxia, Weight loss, Bradykinesia, Gait... |
OMIM:137440 |
| Isaacs Syndrome |
|
Weight loss, Fasciculations, Distal sensory impairment |
ORPHA:84142 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Hyperkinetic movements, Impaired social interactions, Stereotypical hand... |
ORPHA:397933 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Xq28 (MECP2) duplication |
|
Inability to walk, Gait ataxia, Depression, Progressive spasticity, Dysphagia, Failure to thrive,... |
DECIPHER:45 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysphagia, Choreoathetosis, Bruxism, Self-mutilation |
OMIM:619422 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Aggressive behavior, Tremor, Abnormal autonomi... |
ORPHA:97229 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Neuromuscular dy... |
ORPHA:240094 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Abnormal eating behavior, Tremor, Poor coordination, Gait disturbance, Impaired social in... |
ORPHA:544254 |
| Manganese Poisoning |
|
Dystonia, Postural tremor, Confusion, Akinesia, Aggressive behavior, Hypersexuality, Cogwheel rig... |
ORPHA:306682 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, B... |
OMIM:168600 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Impulsivity, Involuntary movements, Tremor, Rigidity, Unstea... |
ORPHA:442835 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Impai... |
OMIM:607706 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... |
OMIM:616688 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Tongue thrusting, Athetosis, Irritability, Impaired social interactions, Bruxis... |
OMIM:613454 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Frontotemporal dementia, Weight loss, Bradykinesia, Dep... |
OMIM:168605 |
| Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Dysphagia, Gait disturban... |
OMIM:210000 |
| Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inabilit... |
ORPHA:72 |
| Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Incoordination, Tremor, Paraparesis, Babinski sign, Dy... |
OMIM:302800 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Self-injurious behavior, Hypertonia, Abnormal repetitive mannerisms, Spastic tetraplegia |
OMIM:615282 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia |
ORPHA:100025 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
| Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Dysesthesia, Rigidity, Unsteady gait, Optic atrophy, Limb ... |
OMIM:614877 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Progressive neurologic deterioration, Aggressive behavior, Optic atrophy, Spastic t... |
OMIM:300438 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... |
ORPHA:101077 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus, Abnormal repetiti... |
OMIM:619092 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... |
OMIM:105400 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Neurom... |
ORPHA:227510 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Tremor, Chorea, Impaired distal vibration se... |
OMIM:606002 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Poor motor coordination, Parkinsonism, Clumsiness, Poor fine motor coordinatio... |
ORPHA:79264 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... |
ORPHA:280210 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Impulsivity, ... |
OMIM:614298 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Obesity Due To Sim1 Deficiency |
|
Obesity, Abnormal autonomic nervous system physiology, Attention deficit hyperactivity disorder, ... |
ORPHA:369873 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations, Dysphagia, Loss of ambulation |
OMIM:613435 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Somatic sensory dysfunction, Incoordination, Aggressive behavior, Paralysis, Parap... |
ORPHA:43 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Hirsutism |
OMIM:612526 |
| Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Spasticity, Fasciculations, Dysphagia |
OMIM:614808 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Facial palsy, Optic atrophy, Distal sensory impairment, Bradykinesia, Cogwheel rigidity, ... |
ORPHA:254886 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Slurred speech, Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:261229 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Hypertonia, Small for gestational age, Gliosis |
OMIM:615095 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Broad-based gait, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathet... |
OMIM:617964 |
| Oromandibular Dystonia |
|
Limb dystonia, Torticollis, Generalized dystonia, Dysphagia, Depression, Blepharospasm, Weight lo... |
ORPHA:93958 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Confusion, Hypertonia, Agitation, Disinhibition, Myoclonus, Apraxia, Oculom... |
ORPHA:1020 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Dementia, ... |
OMIM:300894 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Infantile Neuroaxonal Dystrophy |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Dystonia, Ataxia, Impulsivity, Sp... |
ORPHA:35069 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
| Cln5 Disease |
|
Hyperactivity, Abnormal central motor function, Ataxia, Aggressive behavior, Tremor, Inability to... |
ORPHA:228360 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Slender build, Difficulty walking, Astrocytosis |
OMIM:611087 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Spasticity, Bruxism |
OMIM:620149 |
| Christianson Syndrome |
|
Dystonia, Cachexia, Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repe... |
ORPHA:85278 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Incoordination, Small for gestational age, Ataxia, Failure to thrive in infancy, G... |
OMIM:614104 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati... |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Disinhibition, Fasciculati... |
OMIM:616437 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Aggressive behavior, Tremor, Rigidity, Paraparesis, Hypertonia, My... |
OMIM:612736 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Dementia, Gait imbalance, Myoclonus, Frequent falls |
OMIM:301020 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Chorea, Cerebral palsy, Spasticity |
OMIM:618557 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Clonus, Aggressive behavior, Optic atrophy, Choreoathetosis, Hypertonia, Spasticity, Failure to t... |
OMIM:617698 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Irritability, Spasticity, Dystonia |
OMIM:614249 |
| Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb... |
OMIM:603516 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment |
OMIM:614018 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Incoordination, Tongue thrusting, Gait ataxia, Intention tremor |
OMIM:620393 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Dystonia, Lethargy |
ORPHA:289916 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Impaired temperature sensation, Tremor, Impaired distal vibration sensat... |
OMIM:619574 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, Inability to walk, Cerebellar gliosis, Gliosis, Dystonia, Basa... |
ORPHA:79243 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Involuntary movements, Chorea, Gait ataxia, Hypertonia, Impaired social interactions, Dysphagia, ... |
OMIM:614961 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Insulinoma |
|
Tremor, Increased body weight, Transient global amnesia, Paresthesia, Abnormality of pain sensati... |
ORPHA:97279 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| 4H Leukodystrophy |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, ... |
ORPHA:289494 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking |
OMIM:615575 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
| Brain-Lung-Thyroid Syndrome |
|
Short attention span, Hyperactivity, Incoordination, Ataxia, Involuntary movements, Dystonia, Abn... |
ORPHA:209905 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
| Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Dystonia, Facial-lingual fasciculations, Substantia nigra... |
ORPHA:276244 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho... |
OMIM:615491 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Chorea, ... |
ORPHA:2131 |
| Young-Onset Parkinson Disease |
|
Restless legs, Short attention span, Dystonia, Impulsivity, Tremor, Rigidity, Depression, Bradyki... |
ORPHA:2828 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Obesity, Impaired social interactions, Aggressive behavior |
ORPHA:329249 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Posteriorly rotated ears, Long eyelashes, Hypocalce... |
OMIM:606407 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
| Nmda Receptor Encephalitis |
|
Chorea, Opisthotonus, Choreoathetosis, Abnormal repetitive mannerisms, Delirium, Confusion, Hyper... |
ORPHA:217253 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, R... |
ORPHA:101085 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance |
ORPHA:101078 |
| Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Spastic tetraplegia, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618285 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity |
OMIM:618451 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Developmental And Epileptic Encephalopathy 67 |
|
Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia |
OMIM:618141 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inability to walk, Babin... |
OMIM:128100 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal py... |
ORPHA:240071 |
| Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Dysphagia, Palatal tremor, Failure to thrive |
ORPHA:363717 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Dystonia, Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Dysphagia, Spas... |
OMIM:612389 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Neuromyotonia, Fasciculations, Distal sensory impairment |
OMIM:137200 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Limb dystonia, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, De... |
ORPHA:25 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor, Dysphagia, Distal sensory impairment |
OMIM:607734 |
| Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ... |
ORPHA:254881 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased compound muscle... |
OMIM:600882 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... |
ORPHA:521406 |
| Birk-Aharoni Syndrome |
|
Inability to walk, Chorea, Failure to thrive, Spastic tetraplegia |
OMIM:620071 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusti... |
OMIM:619580 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dysphagia, Lo... |
OMIM:607694 |
| Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia, Resting tremor |
ORPHA:397941 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Limb ataxia, Dysmetria, Gait ataxi... |
OMIM:617145 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... |
ORPHA:36387 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Parkinsonism, Aggressive behavior, Dementia, Gliosis, Memory impairment |
OMIM:606688 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesis,... |
ORPHA:309854 |
| Parkinsonian-Pyramidal Syndrome |
|
Substantia nigra gliosis, Dystonia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sig... |
ORPHA:171695 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder, Failure ... |
OMIM:619556 |
| Mantle Cell Lymphoma |
|
Anorexia, Weight loss |
ORPHA:52416 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Weight loss, Depression, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Machado-Joseph Disease Type 1 |
|
Substantia nigra gliosis, Facial-lingual fasciculations, Dystonia, Babinski sign, Vocal cord para... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Substantia nigra gliosis, Facial-lingual fasciculations, Dystonia, Babinski sign, Vocal cord para... |
ORPHA:276241 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d... |
ORPHA:289560 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Lower limb spasticity, Broad-based gait, Dystonia, Ataxia, Short attention span, Im... |
OMIM:617854 |
| Glioblastoma |
|
Glioblastoma multiforme, Emotional lability, Paralysis |
ORPHA:360 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Paraplegia, Emotional lability, Agitation, Cognitive impairment, Lethargy, Fai... |
ORPHA:927 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Rigidity, Inability to walk, Choreoathetosis, Self-injurious ... |
OMIM:620023 |
| Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal social behavior, Abnorma... |
ORPHA:530983 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Chorea, Athetosis, Dysphagia, Abnormal repetitive manne... |
OMIM:619435 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, ... |
ORPHA:98794 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Hand tremor, Loss of ambulation, Eyelid apraxia, Parkinsonism, Clumsiness, Depression, Up... |
OMIM:612953 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Sensorineural hearing impairment, Abnormality of the frontal hairline, Hypocalcemi... |
ORPHA:557003 |
| Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Depression, Agitation, Emotional ... |
ORPHA:803 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal pyramidal sign, Progressive psychomotor deterioration, Gliosis, Ataxia, Parkinsonism, De... |
ORPHA:909 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Depression, S... |
ORPHA:58 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoathetosis, Limb dystonia, Fr... |
OMIM:619054 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Dystonia, Parkinsonism, Aggressi... |
OMIM:200150 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... |
OMIM:600363 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Dementia, Abnormality of extrapyra... |
OMIM:604290 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
| Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Aggressive behavior, Clumsiness, Hyperkinetic movements, Cognitive impairment, Dy... |
ORPHA:725 |
| Rett Syndrome |
|
Dystonia, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Abnormal autonomic ner... |
ORPHA:778 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ... |
OMIM:601042 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Choreoathetosis, Absent brainstem auditory responses, Facial palsy, Dysphagia |
OMIM:617519 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Rigidity, Head titubat... |
OMIM:608804 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive psyc... |
ORPHA:363400 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abnormal aut... |
OMIM:618049 |
| Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Optic atrophy, Gait ataxia, Difficulty walking, Dystonia, Spasticity, Abnormal ... |
OMIM:617807 |
| Valinemia |
|
Failure to thrive, Hyperkinetic movements |
OMIM:277100 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Ataxia, Chorea, Babinski sign, Cognitive impairment |
OMIM:604168 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... |
OMIM:614436 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Akinesia, Aggressive behavior, Impulsivity, Postural tremor, Limb ataxia, G... |
OMIM:607454 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... |
ORPHA:168491 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia |
OMIM:605909 |
| Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity |
ORPHA:33445 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... |
ORPHA:542310 |
| Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Dystonia, Ataxia, Involuntary movements, Inability to walk, Chorea, Bruxism, Stereotypical hand w... |
OMIM:617804 |
| Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
| Alzheimer Disease 3 |
|
Dystonia, Spastic tetraparesis, Babinski sign, Dementia, Gait disturbance, Myoclonus, Abnormality... |
OMIM:607822 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Compulsive behaviors |
OMIM:619405 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
| Spinocerebellar Ataxia 47 |
|
Chorea, Ataxia, Dysmetria, Spasticity |
OMIM:617931 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Spasticity, Dystonia |
OMIM:613970 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Decreased nerve conduction velocity, Impaired pain sensation, Imp... |
ORPHA:99948 |
| Chronic Hiccup |
|
Depression, Weight loss, Abnormal eating behavior |
ORPHA:396 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia |
ORPHA:330050 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Spasticity, Gliosis |
ORPHA:168486 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Babinski sign, Li... |
OMIM:608643 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia, Confusion |
OMIM:148840 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Cognitive impairment,... |
OMIM:614487 |
| Rheumatic Fever |
|
Anorexia, Chorea, Gait disturbance, Hemiballismus, Fasciculations |
ORPHA:3099 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dysphagia, Spasti... |
OMIM:608768 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Hyperkinetic movements |
OMIM:271980 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Large earlobe, Abnormal antihelix morphology, Hypocalcemia, Low-set ears |
ORPHA:1438 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
| Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
| Spinocerebellar Ataxia 36 |
|
Incoordination, Ataxia, Babinski sign, Truncal ataxia, Limb ataxia, Gait ataxia, Hypertonia, Tong... |
OMIM:614153 |
| Leigh Syndrome |
|
Dystonia, Ataxia, Involuntary movements, Progressive neurologic deterioration, Chorea, Optic atro... |
ORPHA:506 |
| Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Speech apraxia, Broad-based gait, Dystonia, Aganglionic megacolon, Aggressive behavior, Hypertoni... |
OMIM:300352 |
| Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Dysphagia, ... |
OMIM:308350 |
| Congenital Disorder Of Deglycosylation 1 |
|
Restlessness, Pain insensitivity, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Dysme... |
OMIM:615273 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... |
OMIM:618342 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi... |
OMIM:617013 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Low-set ears, Micropen... |
OMIM:241410 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Cerebral palsy, Small for gestational age, Repetitive compulsive behavior, Hyperto... |
ORPHA:352490 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
| Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis |
ORPHA:230800 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, Distal sensory impai... |
OMIM:616505 |
| Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements, Dysphagia |
OMIM:618374 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Dystonia, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dysphagia, Spasticity |
OMIM:617664 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:618238 |
| Spinocerebellar Ataxia Type 10 |
|
Lower limb spasticity, Kinetic tremor, Aggressive behavior, Unsteady gait, Babinski sign, Dysmetr... |
ORPHA:98761 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Tremor, Irritability, Hyperkinetic movements, Emotional lability, Polydipsia, Fail... |
ORPHA:525731 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Optic atrophy, Choreoathetosis, Dystonia, Lethargy, Failure to thrive |
ORPHA:79312 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Opisthotonus, Weight loss, Attention deficit hyperactivi... |
ORPHA:216866 |
| Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617302 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Cryptorchidism, Low anterior hairline, Low posterior hairline, Hypocalcemia, Heari... |
OMIM:618440 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... |
OMIM:118300 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Dystonia, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia,... |
ORPHA:391428 |
| Developmental And Epileptic Encephalopathy 29 |
|
Chorea, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive |
OMIM:616339 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Obesity, Skin-picking, Polyphagia |
OMIM:615547 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Leptin Receptor Deficiency |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Emotional lability, Polyphagia |
OMIM:614963 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Choreoathetosis, Tics, Compulsive behaviors, Limb dystonia, Loss of ambulation, Intention tremor,... |
ORPHA:157850 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Failure to thrive, Childhood-onset truncal obesity, Obesity |
ORPHA:71526 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Hypocalcemia |
OMIM:612462 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Spastic tetraplegia, Eyelid myoclonus, Self-injurio... |
ORPHA:208447 |
| Trisomy X |
|
Tremor, Cognitive impairment, Attention deficit hyperactivity disorder, Depression |
ORPHA:3375 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Chorea, Tip-toe gait, Brachial plexus neuropathy, Dysphagia |
ORPHA:268 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facial diplegia... |
OMIM:619121 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Agitation, Lethargy, Polyphagia |
ORPHA:324575 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperactivity, Ataxia, Parkinso... |
OMIM:234200 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Babinski sign, Steppage gait, Tip-toe gai... |
OMIM:615290 |
| Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
| Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity |
OMIM:312840 |
| Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Dystonia, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal... |
ORPHA:64753 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Spastic tetraplegia, ... |
ORPHA:3240 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Cryptorchidism, Low-set ears, Micropenis |
OMIM:614732 |
| Mcleod Syndrome |
|
Chorea, Depression, Compulsive behaviors, Dystonia, Impaired vibration sensation at ankles |
OMIM:300842 |
| Poliomyelitis |
|
Confusion, Abnormal motor nerve conduction velocity, Anorexia, Paralysis, Inability to walk, Para... |
ORPHA:2912 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity, Self-mutilation |
OMIM:308950 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:36913 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hypokalemia, Nail dystrophy, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hyperkinetic moveme... |
ORPHA:522077 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Optic atrophy |
OMIM:619690 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Tetraparesis, Dementia, Failure ... |
OMIM:203700 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Inability to walk, Astrocytosis, Cognitive impairment, Dysphagia, Decreased body we... |
ORPHA:258 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Unsteady gait, Obesity, Fasciculations, Difficulty ... |
ORPHA:464282 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Small for gestational age, Inability to walk, Chorea, Oculomotor apraxia, Opti... |
ORPHA:404454 |
| Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Choreoathetosis, Hypertonia, Agitation, Hemiplegia |
OMIM:272300 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Progressive neurologic deterioration, Tremor, Increased body weight, Agitation, Lethargy |
ORPHA:276608 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
| Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
| Fatal Familial Insomnia |
|
Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus, Dysphagia |
OMIM:600072 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Broad-based gait, Gait ataxia, Distal sensory impairme... |
OMIM:614895 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Impaired distal vibration sensation, Babinski sign, Spastic paraplegia, Tetraplegia, Pseu... |
OMIM:616586 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
| Intermediate Osteopetrosis |
|
Cranial nerve compression, Hypocalcemia, Optic atrophy from cranial nerve compression |
ORPHA:210110 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
| Abcd Syndrome |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... |
OMIM:600501 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
| Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Limb hypertonia, Failure to thrive, Dysphagia |
OMIM:617162 |
| Albers-Schönberg Osteopetrosis |
|
Facial palsy, Optic atrophy, Hypocalcemia, Hearing impairment |
ORPHA:53 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Mental deterioration, Failure to thrive |
OMIM:616672 |
| Classic Phenylketonuria |
|
Tremor, Mental deterioration, Paraplegia, Depression, Self-injurious behavior, Hypertonia, Attent... |
ORPHA:79254 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short attention span, Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughte... |
OMIM:156200 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Dysphagia, Bradykinesia, Dementi... |
ORPHA:75567 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
| Hijazi-Reis Syndrome |
|
Ankle clonus, Abnormal repetitive mannerisms, Gait disturbance, Lower limb spasticity |
OMIM:301094 |
| Obesity And Hypopigmentation |
|
Polyphagia, Obesity |
OMIM:620195 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity |
OMIM:618406 |
| Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... |
ORPHA:98768 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, Paraplegia, Weight loss, Impaired oropharyngeal swallow response, Voca... |
ORPHA:98897 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Progress... |
ORPHA:309263 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Severe temper tantrums, Aggressive behavior, Tremor, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617710 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Dysphagia |
OMIM:619473 |
| Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
| Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis |
OMIM:619735 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Dysesthesia, Cranial nerve compression, Vocal cord paralysis, Depressi... |
ORPHA:221098 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Hypertonia, Gait disturbance, Compulsive be... |
OMIM:300986 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Decreased nerve conduction velocity, Tremor, ... |
ORPHA:329478 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Hyperactivity, Ataxia, Unsteady gait, Pica, Tongue thrusting, Stereotypical bod... |
OMIM:617865 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Hyperactivity, Cerebral palsy, Ataxia, Aggressive behavior, Mental deterio... |
ORPHA:163681 |
| Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Weakness due to upper motor neuron dysfunction, Facial... |
ORPHA:79139 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emotion, Attentio... |
ORPHA:1942 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiad... |
OMIM:614381 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
| Episodic Ataxia Type 4 |
|
Abnormal head movements, Frequent falls, Incoordination, Ataxia |
ORPHA:79136 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment, Giant somatosensory evo... |
OMIM:607876 |
| Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Limb ataxia, Dysmetria, Ankle clonus, Progressive cerebellar ataxia, Progressive ... |
ORPHA:284289 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Sensorineural hearing impa... |
OMIM:607143 |
| Luscan-Lumish Syndrome |
|
Shyness, Aggressive behavior, Slurred speech, Obesity, Polyphagia |
OMIM:616831 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Abnor... |
ORPHA:309256 |
| Systemic Lupus Erythematosus 17 |
|
Chorea |
OMIM:301080 |
| Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity |
ORPHA:88619 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... |
ORPHA:444002 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Ataxia, Inability to walk, Optic atrophy, Upper limb spasticity, Tongue fa... |
OMIM:617193 |
| D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Dysphagia |
OMIM:313200 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Dystonia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Imp... |
ORPHA:261197 |
| 48,Xxyy Syndrome |
|
Ataxia, Tremor, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitiv... |
ORPHA:10 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Hypocalcemia, Abnormal fallopian tube morphology, Low-... |
ORPHA:1655 |
| Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis |
OMIM:300215 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Limb hypertonia, Dystonia, Dysphagia |
OMIM:618247 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Myoclonus |
ORPHA:411986 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Poor coordination, Depressio... |
OMIM:620242 |
| Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Aggressive behavior, Tremor, Shyness, Self-injurious behavior, Dysphagia, Spast... |
OMIM:300978 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
| Mohr-Tranebjaerg Syndrome |
|
Tremor, Dysphagia, Dystonia, Mental deterioration, Spasticity |
OMIM:304700 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Hypocalcemia, Sensorineural hearing impairment |
ORPHA:47 |
| Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Bruxism, Spasticity, Motor deterio... |
OMIM:312750 |
| Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Cognitive impairment, Mental de... |
ORPHA:3124 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... |
ORPHA:70594 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Poor coordination, Obesity, Compulsive behaviors, Spa... |
OMIM:618430 |
| Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, External ear malformation, Cryptorchidism... |
ORPHA:2323 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
| Spinocerebellar Ataxia Type 42 |
|
Resting tremor, Upper limb postural tremor, Unsteady gait, Babinski sign, Gait ataxia, Depression... |
ORPHA:458803 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
| Temple Syndrome |
|
Polyphagia, Small for gestational age, Obesity |
ORPHA:254516 |
| Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
| Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... |
OMIM:301029 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Oral-pharyngeal dysphagia, Babinski sign, Choreoathetosis, Lower limb hypert... |
ORPHA:2524 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Inability to walk, Hypertonia, Abnormal repetitive mannerisms |
OMIM:619877 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Involuntary movements, Depression, Attention deficit hyperactivity disorder,... |
ORPHA:98784 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Anorexia, Paralysis, T... |
ORPHA:297 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Chorea, Difficulty walking, Truncal ataxia |
ORPHA:369840 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
| Developmental And Epileptic Encephalopathy 84 |
|
Chorea, Babinski sign, Opisthotonus, Dystonia, Spasticity |
OMIM:618792 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
| Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory... |
ORPHA:600 |
| Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Hypercalcemia |
ORPHA:2123 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Hypocalcemia, Low-set ears, Micropenis, Hypoproteinemia, Hypertrichosis |
OMIM:235255 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Impaired pain sensation, Decreased nerve conduction velocity, Impai... |
ORPHA:101097 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to walk, Opisthoton... |
OMIM:619653 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Short attention span, Ataxia, Babinski sign,... |
ORPHA:88644 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Tremor, Gait ataxia, Abdominal obesity, Emotional lability |
OMIM:300354 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Optic atrophy, Gliosis |
OMIM:616239 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, Athetosis, Hy... |
OMIM:615356 |
| Cri-Du-Chat Syndrome |
|
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Optic atroph... |
OMIM:123450 |
| Colchicine Poisoning |
|
Hyponatremia, Alopecia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalc... |
ORPHA:31824 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hemiparesis, Chorea, Failure to thrive in infancy, Dystonia |
OMIM:618829 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Irritability, Lower limb hypertonia, Sp... |
ORPHA:3208 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Small for gestational age, Inability to walk, Athetos... |
OMIM:612073 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Progressive psychomotor deterioration, Obesity, Myoclonus, Polyphagia |
ORPHA:251004 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia |
OMIM:224500 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
| Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Dysphagia, Paralysis |
ORPHA:228371 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Vocal cord paralysis, Dysphagia, Clumsiness, Ankle clonus, Gait imbalance, ... |
OMIM:211530 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Generalized hirsutism |
ORPHA:1563 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire... |
OMIM:612469 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Decreased nerve conduction velocity, Dystonia |
OMIM:614932 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor, Dysphagia |
ORPHA:397744 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Choreoathetosis, Dystonia, Spasticity... |
OMIM:616034 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Ataxia, Chorea, Optic atrophy, Gait ataxia, Hypertonia, Dysphagia, Spasticity, Failure ... |
ORPHA:255210 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Torticollis, Optic nerve hypoplasia, Inability to walk, Del... |
ORPHA:300570 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Gliosis, Progressive neurologic deterioration |
OMIM:214150 |
| Allan-Herndon-Dudley Syndrome |
|
Ataxia, Failure to thrive in infancy, Small for gestational age, Babinski sign, Abnormal pyramida... |
ORPHA:59 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Head tremor |
OMIM:619428 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereoty... |
OMIM:300912 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Low-set ears, ... |
OMIM:618183 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Gracile Bone Dysplasia |
|
Micropenis, Hypocalcemia |
OMIM:602361 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Progressive neurologic deterioration, Unsteady gait, Astrocytosis, Difficulty ... |
ORPHA:90324 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity |
OMIM:612233 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Choreoathetosis, Dystonia, Spasticity, Limb hypertonia |
OMIM:615905 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Apraxi... |
OMIM:620141 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Facial palsy, Optic atrophy, Hypocalcemia, Facial paralysis, Hearing impairment |
OMIM:259700 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Involuntary movements, Optic nerve hypoplasia, Dysphagia, Spasticity, Abnormal repetitive mannerisms |
ORPHA:572013 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Short attention span, Ataxia, Overweight, Inability to walk, Tremor, Obesi... |
OMIM:619229 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Ataxia, Clumsiness, Diminished ability to concentrate, Attention deficit hyperactivity disorder, ... |
OMIM:615656 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype... |
OMIM:619312 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Hypercalcemia |
ORPHA:2668 |
| Developmental And Epileptic Encephalopathy 74 |
|
Choreoathetosis |
OMIM:618396 |
| Ataxia-Telangiectasia |
|
Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity, Failure to thrive |
ORPHA:100 |
| Nipah Virus Disease |
|
Tremor, Myoclonus, Anorexia |
ORPHA:99825 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Hypocalcemia, Aplasia of the uterus, Progressive sensorineural ... |
ORPHA:2237 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
ORPHA:702 |
| Non-Functioning Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Babinski sign, Truncal obesity, Lower limb hypertonia, Gliosis, Myoclonu... |
OMIM:301072 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Basal ganglia gliosis, Gliosis, Limb dystonia |
OMIM:604377 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Incoordination, Impaired pain sensation, Gait ataxia, Abnormal repetitive mannerisms, Overfriendl... |
OMIM:616579 |
| Trisomy 18P |
|
Polyphagia, Facial palsy, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Developmental And Epileptic Encephalopathy 100 |
|
Chorea, Gait ataxia, Choreoathetosis, Myoclonus, Dysphagia, Abnormal repetitive mannerisms |
OMIM:619777 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Agi... |
OMIM:618056 |
| Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations, Difficulty walking |
OMIM:610717 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Spasticity, Abnormal repetitive mannerisms... |
OMIM:300486 |
| Childhood Absence Epilepsy |
|
Depression, Punding, Attention deficit hyperactivity disorder, Limb myoclonus, Abnormal social be... |
ORPHA:64280 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| Central Diabetes Insipidus |
|
Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive |
ORPHA:178029 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
| Classic Hodgkin Lymphoma |
|
Ataxia, Anorexia, Weight loss |
ORPHA:391 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Lower limb spasticity, Aggressive behavior, Hypertonia, Emotional... |
ORPHA:251028 |
| Serotonin Syndrome |
|
Restlessness, Clonus, Confusion, Tremor, Rigidity, Mental deterioration, Irritability, Hypertonia... |
ORPHA:43116 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Depression, Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
| 7Q11.23 Microduplication Syndrome |
|
Collectionism, Hyperactivity, Aggressive behavior, Unsteady gait, Polyphagia, Obesity, Dysmetria,... |
ORPHA:96121 |
| Hereditary Central Diabetes Insipidus |
|
Irritability, Polydipsia, Weight loss |
ORPHA:30925 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hype... |
OMIM:619737 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... |
ORPHA:512 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
| X-Linked Intellectual Disability, Schimke Type |
|
Choreoathetosis, Spasticity, Failure to thrive in infancy |
ORPHA:85285 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Dystonia, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dysphagia,... |
ORPHA:500144 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal head movements, Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Pro... |
ORPHA:247815 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Basal ganglia gliosis, Gliosis, Myoclonus |
OMIM:614946 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Agitation, Bruxism, Rec... |
OMIM:617903 |
| Holocarboxylase Synthetase Deficiency |
|
Irritability, Ataxia, Anorexia, Weight loss |
ORPHA:79242 |
| Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... |
OMIM:618825 |
| Mannosidosis, Alpha B, Lysosomal |
|
Babinski sign, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Gliosis, Spasticity |
OMIM:248500 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Progressive neurologic deterioration |
ORPHA:1192 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Emotional lability, Polyphagia, Obesity, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:179494 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:476126 |
| Rhabdoid Tumor |
|
Hemiplegia, Irritability, Cerebral palsy, Weight loss |
ORPHA:69077 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait dist... |
ORPHA:83629 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Pontocerebellar Hypoplasia, Type 1D |
|
Oral-pharyngeal dysphagia, Tongue fasciculations, Fasciculations, Spasticity, Failure to thrive |
OMIM:618065 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:238750 |
| Pseudohypoparathyroidism Type 1A |
|
Involuntary movements, Confusion, Obesity, Depression, Choreoathetosis, Irritability, Paresthesia... |
ORPHA:79443 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Lower limb hypertonia, Limb dystonia, Failu... |
ORPHA:319514 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Dystonia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable ... |
ORPHA:199351 |
| Pettigrew Syndrome |
|
Aggressive behavior, Optic atrophy, Gait ataxia, Choreoathetosis, Self-injurious behavior, Spasti... |
OMIM:304340 |
| Chromosome 22Q13 Duplication Syndrome |
|
Short attention span, Impulsivity, Attention deficit hyperactivity disorder, Emotional lability, ... |
OMIM:615538 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Failure to thrive, Gliosis, Large for gestational age |
ORPHA:261652 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Unsteady gait, Attention deficit hyperactivity disorder, Abnorm... |
OMIM:618205 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Facial palsy, Parkinsonism, Impaired distal proprioception, Rigidity, Impaired di... |
OMIM:157640 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi... |
OMIM:600430 |
| Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Frequent falls, Ataxia, Dystonia |
OMIM:618416 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Attention deficit hyperactivity disorder, Compulsive behaviors, Failure to thrive, Decrea... |
ORPHA:370079 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... |
OMIM:182290 |
| Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Failure to thrive in infancy, Tremor, Chorea, Poor coordination, Optic atrophy |
OMIM:601808 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Spastic tetraplegia, Opisthotonus, Irritability, Hypertonia, Gliosis, Myoclonic spasms |
OMIM:252160 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Optic atrophy, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94089 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
| Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Dysphagia |
OMIM:619790 |
| Cebalid Syndrome |
|
Polyphagia |
OMIM:618774 |
| Cimdag Syndrome |
|
Chorea, Ataxia, Spasticity, Dystonia |
OMIM:619273 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Dysphagia |
OMIM:150260 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dystonia, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spasticity, Dysphagia, ... |
ORPHA:496641 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Short attention span, Overweight, Repetitive compulsive behavior, Oromotor apraxia, Attention def... |
ORPHA:391372 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... |
ORPHA:449291 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Long eyelashes, Abnormal auditory evoked potentials, Low posterior hairline |
OMIM:617523 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Frontotemporal dementia, Cranial nerve compression,... |
ORPHA:52430 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Fasciculations |
ORPHA:206546 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Dementi... |
OMIM:105210 |
| Porphyria, Acute Intermittent |
|
Depression, Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Dysphagia |
ORPHA:2198 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation, Babins... |
OMIM:607459 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Impaired temperature sensation, Increased body weight, Abdominal obesity, Compulsive... |
ORPHA:398069 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Niemann-Pick Disease, Type C2 |
|
Dystonia, Ataxia, Dementia, Dysphagia, Cataplexy, Spasticity, Abnormal repetitive mannerisms |
OMIM:607625 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Long eyelashes, Hypocalcemia |
OMIM:618476 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention defici... |
OMIM:619680 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gliosis, Dysphagia |
ORPHA:26791 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... |
OMIM:617061 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Steppage gait, Fasc... |
ORPHA:521411 |
| Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Delirium, Confusion, Aggressive behavior, Abnormal eating behavior, ... |
ORPHA:247585 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Cachexia, Decreased nerve ... |
ORPHA:206436 |
| Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... |
ORPHA:3299 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:613443 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tetraparesis |
ORPHA:85277 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Torticollis, Ataxia, Tremor, Rigidity, Irritability, Tetraparesis |
OMIM:617186 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Dystonia, Tremor, Unsteady gait, Optic atrophy, Weight loss, Gait d... |
ORPHA:354 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... |
OMIM:617988 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy, Failure to thrive |
OMIM:236270 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
| Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Babinski sign, Vocal cord pa... |
ORPHA:268882 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
| Microtriplication 11Q24.1 |
|
Speech apraxia, Hyperkinetic movements, Obesity, Bruxism |
ORPHA:289522 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Obesity, Abdominal obesity, Abnormal temper tantrums, Skin-pickin... |
ORPHA:398079 |
| Pseudohypoparathyroidism Type 1C |
|
Confusion, Obesity, Depression, Irritability, Paresthesia, Myoclonic spasms, Laryngeal dystonia, ... |
ORPHA:79444 |
| Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight |
OMIM:618347 |
| Myopathy, Myofibrillar, 2 |
|
Fasciculations, Dysphagia |
OMIM:608810 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
| Hereditary Hyperekplexia |
|
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity |
ORPHA:3197 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
| Cystinosis |
|
Abnormal pyramidal sign, Gait disturbance, Polydipsia, Failure to thrive, Abnormal repetitive man... |
ORPHA:213 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia, Obesity |
OMIM:617885 |
| Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements, Cognitive impairment |
ORPHA:209970 |
| Hyperlysinemia |
|
Short attention span, Hyperactivity, Neck hypertonia, Poor motor coordination, Spastic tetrapares... |
ORPHA:2203 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Hyperactivity, Clonus, Hair-pulling, Irritability, Hypertonia, Myoclonic s... |
ORPHA:447997 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Aggressive behavior, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg ... |
ORPHA:314647 |
| X-Linked Acrogigantism |
|
Increased body mass index, Ataxia, Polyphagia |
ORPHA:300373 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Loss of ability to walk in first decade, Truncal ataxia, Dysphagia, Hyperkinetic movement... |
OMIM:300243 |
| Fragile X Syndrome |
|
Abnormal head movements, Hyperactivity, Recurrent hand flapping, Self-biting |
OMIM:300624 |
| Gitelman Syndrome |
|
Salt craving, Ataxia, Paralysis, Paresthesia, Polydipsia, Failure to thrive |
OMIM:263800 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Pain insensitivity, Broad-based gait, Optic nerve hypoplasia, Aggressive behavior, H... |
OMIM:620330 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Dysphagia |
ORPHA:142 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Lower limb spasticity, Akinesia, Optic neuropathy, Optic atrophy, Abnormal pyr... |
OMIM:618249 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis, Lethargy |
ORPHA:27 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Optic atrophy, Self-injurious behavior, Attention deficit hyperactivity diso... |
ORPHA:313892 |
| Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... |
OMIM:311510 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations |
ORPHA:682 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Abnormal aut... |
OMIM:616840 |
| Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairment, Depression,... |
OMIM:617675 |
| Wolfram Syndrome 1 |
|
Tremor, Optic atrophy, Ataxia, Dysphagia |
OMIM:222300 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Small for gestational age, Oral-pharyngeal dysphagia, Tremor, Gliosis, Attention d... |
ORPHA:506358 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Facial palsy, Abnormal repetitive mannerisms, Obesity, Bruxism, Dysphagia, Truncal... |
OMIM:615873 |
| Brody Disease |
|
Somatic sensory dysfunction, Fasciculations |
OMIM:601003 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Dilated Cardiomyopathy With Ataxia |
|
Lower limb spasticity, Ataxia, Repetitive compulsive behavior, Optic atrophy, Dystonia, Action tr... |
ORPHA:66634 |
| Cholera |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration |
ORPHA:173 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... |
OMIM:607060 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Failure to thrive, Frequent falls, Impaired pain sensa... |
ORPHA:99949 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Aganglionic megacolon, Polyphagia, Weight loss |
ORPHA:95427 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Cachexia |
ORPHA:1933 |
| Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia, Obesity, Orthostatic hypotension due to autonomic dysfunction |
ORPHA:66628 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Dementia, Ataxia, Decreased body weight |
OMIM:278760 |
| Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
| Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:615637 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:620292 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Small for gestational age, Ataxia, Aggressive behavior, Inability to walk,... |
OMIM:617799 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Ataxia, Aggressive beh... |
ORPHA:268261 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Cachexia, Weight loss, Paresthesia, Dysphagia, Decreas... |
ORPHA:298 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... |
OMIM:610883 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Dysphagia |
ORPHA:684 |
| Cockayne Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Cachexia, Action tremor, Decreased nerve ... |
ORPHA:191 |
| East Syndrome |
|
Salt craving, Ataxia, Inability to walk, Difficulty walking, Polydipsia, Action tremor |
ORPHA:199343 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Hypernatr... |
ORPHA:529799 |
| Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Lynch Syndrome |
|
Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Depression, Weight loss... |
ORPHA:144 |
| Joubert Syndrome 6 |
|
Oculomotor apraxia, Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Nail dystrophy, Hypoma... |
ORPHA:37042 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
| Sneddon Syndrome |
|
Facial palsy, Tremor, Mental deterioration, Impaired distal tactile sensation, Hemiplegia |
OMIM:182410 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, Self-injurious behav... |
ORPHA:98793 |
| Prader-Willi Syndrome |
|
Failure to thrive in infancy, Impaired pain sensation, Poor gross motor coordination, Obesity, Po... |
OMIM:176270 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Dysphagia, Mental deterior... |
OMIM:254900 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Tremor, Myoclonus, Dysphagia, Loss of ambulation, Right hemiplegia |
OMIM:607426 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, Self-injurious behav... |
ORPHA:177904 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Depression, Clumsiness, Weight loss, ... |
ORPHA:905 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, Self-injurious behav... |
ORPHA:177901 |
| Lesch-Nyhan Syndrome |
|
Dystonia, Opisthotonus, Choreoathetosis, Self-injurious behavior, Abnormality of extrapyramidal m... |
OMIM:300322 |
| Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, Pr... |
OMIM:268800 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Horner syndrome, Weight loss, Myoclonus, Failure to thrive |
OMIM:256700 |
| Double Outlet Right Ventricle |
|
Abnormality of cartilage of external ear, Hypocalcemia |
ORPHA:3426 |
| Pyruvate Carboxylase Deficiency |
|
Dystonia, Ataxia, Anorexia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Tip-toe gait, Co... |
ORPHA:3008 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Ataxia, Facial palsy, Tremor, Rigidity, Gait ataxia, Bradykinesia, Facial diplegi... |
ORPHA:254892 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Attention deficit hyperact... |
ORPHA:401777 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Gliosis, Myoclonic spasms |
OMIM:252150 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Hypocalcemia |
OMIM:212750 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Hand tremor, Weight loss, Agitation |
ORPHA:424 |
| Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, Gait disturbance, Myoclonus |
ORPHA:812 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Abnormal repetitive mannerisms |
OMIM:618067 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Impaired temperature sensation, Bulimia, Obesity, Self-injurious behav... |
ORPHA:98754 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... |
ORPHA:99956 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
| Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
| Episodic Ataxia Type 1 |
|
Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Abnormality of peripheral somatosensory evoked potentials, Somatic ... |
ORPHA:466768 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... |
ORPHA:457279 |
| Gangliocytoma |
|
Dementia, Paresthesia, Polyphagia |
ORPHA:251937 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Papilledema, Hypocalcemia |
OMIM:127000 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, Self-injurious behavior, Limb dystonia, Spasticity, Abnormal repetitive manner... |
ORPHA:457351 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... |
OMIM:617796 |
| Full Schwannomatosis |
|
Hypoesthesia, Paresthesia, Fasciculations, Bilateral vestibular schwannoma |
ORPHA:93921 |
| Isotretinoin-Like Syndrome |
|
Aplasia/Hypoplasia of the inner ear, Microtia, Anotia, Hypocalcemia, Bilateral sensorineural hear... |
ORPHA:2306 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Optic atrophy, Gait ataxia, Hyperkinetic movements, Loss of ambulation, Sp... |
OMIM:620089 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Microtia, Hypocalcemia, Hyperbilirubinemia... |
ORPHA:163979 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
| Craniofacioskeletal Syndrome |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Microtia, Hypocalcemia |
OMIM:300712 |
| Familial Colorectal Cancer Type X |
|
Glioblastoma multiforme, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Depression, Weight loss... |
ORPHA:440437 |
| Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Gait dis... |
ORPHA:819 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Intention tremor,... |
OMIM:619475 |
| Aicardi-Goutieres Syndrome 9 |
|
Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Weight loss, Irritabi... |
OMIM:619487 |
| Developmental And Epileptic Encephalopathy 4 |
|
Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia |
OMIM:612164 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Optic atrophy, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Impulsivity, Aggressive behavior, Self-injurious behavior, Hypertonia, Abnormal r... |
OMIM:618914 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Small for gestational age, Ataxia, Tremor, Dysmetria, Dysphagia, Gliosis, Truncal ataxi... |
OMIM:220111 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
| Adnp Syndrome |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Hypertonia, Abnormal temper tant... |
ORPHA:404448 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Limb dystonia, Ataxia, Aggressive behavior, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Di... |
ORPHA:572798 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:103580 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Synophrys, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Optic atrophy, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
| Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Optic atrophy, Limb ataxia, Choreoathetosis, Difficulty walking, Dy... |
OMIM:617595 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Progressive neurologic deterioration, Large for gestational age, Tremor, Increased body weight, A... |
ORPHA:263455 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Sparse eyebrow, EEG abnormality, Hypoca... |
ORPHA:175 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
| Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Depression, Progressive cerebe... |
ORPHA:502423 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Emotional lability, Irritability, Lethargy, Failure to thrive |
OMIM:201100 |
| 48,Xxxy Syndrome |
|
Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior... |
ORPHA:96263 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Optic nerve hypoplasia, Aggressive behavior, Obesity, Self-injuriou... |
OMIM:616364 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Babinski sign, Hypertonia, Inappropriate laughter, Spasticity, Failure to thrive, Abnormal repeti... |
OMIM:615802 |
| Snijders Blok-Fisher Syndrome |
|
Choreoathetosis, Spasticity, Opisthotonus |
OMIM:618604 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Inability to walk, Abnormal repetitive mannerisms, Dysphagia |
OMIM:617802 |
| Jeavons Syndrome |
|
Limb myoclonus, Abnormal head movements |
ORPHA:139431 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Spastic paraplegia, Optic atrophy, Opisthotonus, Choreoathetosis, Hypertonia, Tongue fasc... |
OMIM:614969 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cachexia, Babinski sign, Facial diplegia, Dystonia, Sp... |
OMIM:618186 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Anorexia, Weight loss, Agitation, Extrapyramidal dyskinesia, Oral aversion, Spasticity |
ORPHA:134 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Coffin-Siris Syndrome 6 |
|
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder |
OMIM:617808 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder |
ORPHA:435638 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
| Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Abnormal repetitive mannerisms, Myoclonus |
OMIM:300672 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Mental deterioration, Memory impairment |
ORPHA:79095 |
| Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
ORPHA:529965 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Aggressive behavior, Unsteady gait, Hypertonia, Failure to thrive, Abnormal repetitive mannerisms... |
OMIM:212066 |
| Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady... |
OMIM:614947 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor, Weight loss |
ORPHA:99819 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
| Ogden Syndrome |
|
Abnormal head movements, Torticollis, Hypertonia, Shuffling gait, Lethargy |
ORPHA:276432 |
| Postpoliomyelitis Syndrome |
|
Fasciculations, Dysphagia |
ORPHA:2942 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Inability to walk, Broad-based gait, Vocal cord paralysis |
OMIM:615490 |
| Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation |
ORPHA:2047 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
| Infantile Myofibromatosis |
|
Abnormal hair morphology, Hypercalcemia |
ORPHA:2591 |
| Typhoid |
|
Tremor, Lethargy, Hypertonia, Ataxia |
ORPHA:99745 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Cachexia, Aggressive behavior, Tremor, Obesity |
ORPHA:85293 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Impaired pain sensation, Aggressive behavior, Unsteady gait, Tongue thrusting, ... |
OMIM:606232 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Ataxia, Depression, Gliosis, Emotional lability, Spasticity, Failure to thrive |
OMIM:124000 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Ethylene Glycol Poisoning |
|
Facial palsy, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Impaired pain sensation, Obesity, Depression, Self-injurious behavior, Abnor... |
ORPHA:293987 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Dystonia, Fa... |
ORPHA:431361 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
| Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, Babinski sign, Hyperkinetic movements, Spasticity, Failure to thrive |
OMIM:616420 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
| Velocardiofacial Syndrome |
|
Cryptorchidism, Hypocalcemia |
OMIM:192430 |
| Pilarowski-Bjornsson Syndrome |
|
Speech apraxia, Abnormal repetitive mannerisms |
OMIM:617682 |
| Weaver Syndrome |
|
Slurred speech, Poor fine motor coordination, Hypertonia, Spasticity, Polyphagia |
OMIM:277590 |
| Alazami Syndrome |
|
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... |
ORPHA:319671 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Spasticity, Hypertonia, Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting |
ORPHA:3306 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Spastic tetraplegia, Self-injurious behavior, Hyperesthesia, Severe failure to thrive |
ORPHA:371364 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Dystonia, Ataxia, Small for gestational age, Choreoathetosis, Dysphagia, Failure to thrive |
OMIM:615471 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Alopecia, External genital hypoplasia, Sensorineural hearing... |
ORPHA:79330 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
| Megalocornea-Intellectual Disability Syndrome |
|
Abnormal repetitive mannerisms, Ataxia |
ORPHA:2479 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... |
OMIM:619293 |
| Whipple Disease |
|
Ataxia, Anorexia, Cachexia, Abnormal pyramidal sign, Depression, Myoclonus, Polydipsia |
ORPHA:3452 |
| Glutaric Acidemia I |
|
Rigidity, Spastic diplegia, Opisthotonus, Choreoathetosis, Dystonia, Failure to thrive |
OMIM:231670 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Catastrophic Antiphospholipid Syndrome |
|
Chorea, Dementia |
ORPHA:464343 |
| Mercury Poisoning |
|
Tremor, Confusion, Anorexia, Dystonia |
ORPHA:330021 |
| Prader-Willi Syndrome |
|
Impaired temperature sensation, Abdominal obesity, Attention deficit hyperactivity disorder, Fail... |
ORPHA:739 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Congenital Myopathy 15 |
|
Vocal cord paralysis |
OMIM:620161 |
| Brucellosis |
|
Small for gestational age, Anorexia, Abnormality of the peripheral nervous system, Chorea, Weight... |
ORPHA:1304 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Giant Cell Arteritis |
|
Ataxia, Anorexia, Optic atrophy, Depression, Weight loss, Paresthesia |
ORPHA:397 |
| Dpagt1-Cdg |
|
Ataxia, Akinesia, Aggressive behavior, Tremor, Inability to walk, Optic atrophy, Head-banging, St... |
ORPHA:86309 |
| Hennekam Syndrome |
|
Sparse axillary hair, External ear malformation, Hypocalcemia, Low-set ears, Conductive hearing i... |
ORPHA:2136 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture, Hypocalcemia, Hypophosphatemia, Optic nerve compression, Hearing imp... |
ORPHA:667 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Hypertonia, Aggressive behavior |
OMIM:608093 |
| Chromosome 5P13 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Small for gestational age, Compulsive be... |
OMIM:613174 |
| Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Fine hair, Protruding ear, Hypocalcemia, Low-set ears, Sparse hair |
OMIM:218330 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Opisthotonus, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Spast... |
OMIM:616271 |
| Arthrogryposis, Distal, Type 2A |
|
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Aganglionic megacolon, Cryptorchidism, Optic atrophy, Overfolded helix, Abnormality ... |
ORPHA:567 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Hirschsprung Disease |
|
Aganglionic megacolon, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Cachexia, Paralysis, Spastic paraplegia, Limb ataxia, Hypertonia, Abnormal temper ta... |
ORPHA:2072 |
| Rift Valley Fever |
|
Anorexia, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
| Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
| Hydroxykynureninuria |
|
Hypertonia, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Acute Intermittent Porphyria |
|
Restlessness, Somatic sensory dysfunction, Confusion, Tremor, Depression, Pseudobulbar paralysis,... |
ORPHA:79276 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnormality of ex... |
ORPHA:445038 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia, Hearing impairment |
ORPHA:699 |
| Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, White eyelashes, White eyebrow, Aganglionic megacolon, Short... |
OMIM:609136 |
| Coffin-Siris Syndrome 7 |
|
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors |
OMIM:618027 |
| Houge-Janssens Syndrome 3 |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618354 |
| 1P36 Deletion Syndrome |
|
Hemiplegia/hemiparesis, Optic atrophy, Obesity, Polyphagia, Self-injurious behavior, Gait disturb... |
ORPHA:1606 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Holoprosencephaly |
|
Failure to thrive in infancy, Chorea, Optic atrophy, Cognitive impairment, Dystonia, Spasticity |
ORPHA:2162 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short attention span, Aggressive behavior, Unsteady gait, Choreoathetosis, Hypertonia, Hyperkinet... |
ORPHA:17 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Immunodeficiency 27A |
|
Anorexia, Weight loss |
OMIM:209950 |
| Spondyloenchondrodysplasia |
|
Chorea, Spasticity |
ORPHA:1855 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Vocal cord paresis, Decreased distal sensory nerve action potential, Distal sensory impairment |
OMIM:606071 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Dry hair, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Increa... |
OMIM:619991 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Somatic sensory dysfunction, Anorexia, Weight loss |
ORPHA:370348 |
| Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Tremor, Choreoathetosis, Self-injurious behavior, Myoclonus, Dystonia, Episodic at... |
ORPHA:1934 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Optic nerve hypoplasia, Compulsive behaviors, Attention deficit hyperactivity d... |
ORPHA:93932 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia |
ORPHA:220497 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Congenital Horner sy... |
OMIM:619503 |
| Bainbridge-Ropers Syndrome |
|
Inability to walk, Self-injurious behavior, Hypertonia, Recurrent hand flapping, Failure to thriv... |
OMIM:615485 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elevated circulating creatine kinase concentration, Cranial nerve compression, Optic atrophy, Hyp... |
ORPHA:2785 |
| Pitt-Hopkins Syndrome |
|
Self-injurious behavior, Incoordination, Abnormal repetitive mannerisms, Gait ataxia |
OMIM:610954 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Cryptorchidism, Optic atrophy, Increased blood urea nitrogen... |
ORPHA:90321 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:617751 |
| Gitelman Syndrome |
|
Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Tinnitus |
ORPHA:358 |
| Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Tremor, Weight loss, Difficulty walking, Dysphagia |
OMIM:164310 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia |
ORPHA:42 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
| Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
| D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Failure to thrive, Gliosis |
OMIM:261515 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Weight loss |
ORPHA:65682 |
| Joubert Syndrome |
|
Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia |
ORPHA:475 |
| Takayasu Arteritis |
|
Anorexia, Weight loss |
ORPHA:3287 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis, Weight loss |
ORPHA:29072 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Hyperphosphatemia, Hypocalcemic tetany, Decreased testicular size, Hypocalcemic seiz... |
ORPHA:93325 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Choreoathetosis, Spasticity, Optic atrophy, Spastic diplegia |
ORPHA:2715 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hearing impairment, Hypophosphatemia |
OMIM:156400 |
| Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Speech apraxia, Broad-based gait, Pain insensitivity, Ataxia, Dysmetria, Gait ataxia, Dysphagia, ... |
OMIM:617330 |
| Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
| Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Broad-based gait, Hyperactivity, Ataxia, Aggressive behavior, Unsteady gait, Poor gross motor coo... |
OMIM:614756 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Sialuria |
|
Memory impairment, Hyperkinetic movements, Attention deficit hyperactivity disorder |
ORPHA:3166 |
| Craniopharyngioma |
|
Papilledema, Polyphagia, Optic atrophy, Obesity |
ORPHA:54595 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Anorexia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity |
ORPHA:20 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Tip-toe gait, Attention deficit hyperactivity disorder, Dystonia |
OMIM:617557 |
| Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis |
ORPHA:37553 |
| Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms |
ORPHA:397612 |
| Papillorenal Syndrome |
|
Optic disc coloboma, Gliosis |
OMIM:120330 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment, Hypercalcemia |
OMIM:602080 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Large for gestational age, Upper limb spasticity, Gliosis, Spasticity |
OMIM:300868 |
| 22Q11.2 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors |
ORPHA:1727 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Multifocal epileptiform discharges, EEG ... |
ORPHA:369837 |
| White-Sutton Syndrome |
|
Hyperactivity, Incoordination, Aggressive behavior, Optic atrophy, Obesity, Self-injurious behavi... |
ORPHA:468678 |
| Monosomy 13Q34 |
|
Hypercalcemia, Posteriorly rotated ears, Horizontal eyebrow, Abnormal earlobe morphology |
ORPHA:96168 |
| Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Paralysis |
ORPHA:18 |
| Leishmaniasis |
|
Anorexia, Weight loss |
ORPHA:507 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Depression, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
| De Sanctis-Cacchione Syndrome |
|
Ataxia, Babinski sign, Optic atrophy, Scissor gait, Choreoathetosis, Hypertonia, Mental deteriora... |
OMIM:278800 |
| Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Choreoathetosis, Difficulty walking, Dystonia |
OMIM:610978 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Ataxia, Distal sensory impairment, Choreoathetosis, Mental deterioration, Spasticity |
OMIM:278700 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms |
ORPHA:500159 |
| Diets-Jongmans Syndrome |
|
Gliosis, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618846 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Hypospadias, Increased VLDL cholesterol concentration, Septate vagina, Conjuga... |
OMIM:243800 |
| Charge Syndrome |
|
Mixed hearing impairment, Hypogonadotropic hypogonadism, External genital hypoplasia, Facial pals... |
OMIM:214800 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Fasciculations, Limb hypertonia |
OMIM:620327 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Sparse axillary hair, Hyperkalemia, Increas... |
ORPHA:95409 |
| Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Sensorineural hearing impairment, Tinnitus, Epididymal cyst |
OMIM:193300 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... |
OMIM:619103 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hyperuricemia |
ORPHA:199299 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Mental deterioration, Abnormality of extr... |
OMIM:612199 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620073 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Ovarian cyst, Hypophosphatemia... |
ORPHA:249 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| 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 |
| Rauch-Steindl Syndrome |
|
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:619695 |
| Congenital Tufting Enteropathy |
|
Irritability, Failure to thrive, Optic disc coloboma, Weight loss |
ORPHA:92050 |
| Van Esch-O'Driscoll Syndrome |
|
Impulsivity, Shyness, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder, ... |
OMIM:301030 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Primary testicular failure, Hypercalcemia, Sparse axillary... |
ORPHA:85138 |
| Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Abnormal pyramidal sign, Self-injurious behavior, Hype... |
ORPHA:468631 |
| Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Unsteady gait, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
| 2Q37 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... |
ORPHA:1001 |
| Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
| Cockayne Syndrome B |
|
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Abnormal hair morpholog... |
OMIM:133540 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Familial Glucocorticoid Deficiency |
|
Weight loss, Failure to thrive, Tetraplegia, Anorexia |
ORPHA:361 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Spasticity, Optic atrophy, Ataxia |
ORPHA:220295 |
| Cockayne Syndrome A |
|
Dry hair, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:216400 |
| Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hearing impairment, Hypocalcemic seizures, Alopecia universalis, Hypophosphatemia |
OMIM:277440 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur... |
ORPHA:513456 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Primary Sjögren Syndrome |
|
Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Chorea, Depression, De... |
ORPHA:289390 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia |
ORPHA:2930 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Overweight, Head-banging, Self-injurious behavior, Attention deficit hypera... |
OMIM:619575 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Hypertonia, Abnormal repetitive mannerisms, Opisthotonus |
ORPHA:508533 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Attention deficit hyperactivity disorder, Decreased body weight, Abnorma... |
OMIM:619005 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal head movements, Confusion, Cognitive impairment |
ORPHA:363558 |
| Pineoblastoma |
|
Papilledema, Progressive neurologic deterioration, Paralysis, Cognitive impairment, Memory impair... |
ORPHA:251909 |
| Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... |
ORPHA:319182 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
| Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
| Eosinophilic Gastroenteritis |
|
Weight loss, Dysphagia |
ORPHA:2070 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Mental deterioration, Spasticity, Ataxia |
OMIM:278730 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
| Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Abnormal temper tantrums, Compulsive behaviors, Attention deficit hyperact... |
ORPHA:177907 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Dysphagia, Slender build |
OMIM:603041 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity |
OMIM:176500 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Small for gestational age, Gait disturbance, Attention deficit hyperactivity d... |
ORPHA:464311 |
| Menkes Disease |
|
Chorea, Hypertonia, Spasticity |
ORPHA:565 |
| Fabry Disease |
|
Paresthesia, Abnormal autonomic nervous system physiology, Fasciculations |
OMIM:301500 |
| Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:1332 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
| Wilson Disease |
|
Limb dystonia, Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Hypoesthes... |
OMIM:277900 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Vocal cord paralysis |
OMIM:605373 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
ORPHA:488618 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hemiplegia/hemiparesis, Weight loss, Dysphagia |
ORPHA:183 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms |
ORPHA:261144 |
| Kinsship Syndrome |
|
Spastic tetraparesis, Myoclonus, Bruxism, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619297 |
| Ménétrier Disease |
|
Anorexia, Weight loss |
ORPHA:2494 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)... |
ORPHA:401973 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Aggressive Systemic Mastocytosis |
|
Anorexia, Weight loss |
ORPHA:98850 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
| Systemic Lupus Erythematosus |
|
Chorea, Depression |
ORPHA:536 |
| Riddle Syndrome |
|
Ataxia, Weight loss, Clumsiness, Poor hand-eye coordination, Emotional lability |
ORPHA:420741 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Elevated circulating creatinine concentration, Hypoplasia of the uterus, Bicornuate ... |
OMIM:137920 |
| Acrodermatitis Enteropathica |
|
Emotional lability, Failure to thrive, Anorexia, Weight loss |
ORPHA:37 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Aggressive behavior, Optic disc coloboma, Optic atrophy, Obesity, Impaired soc... |
OMIM:607872 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Hyperactivity, Ataxia, Aggressive behavior, Hypersexuality, Optic atrophy, Ab... |
ORPHA:581 |
| Acute Promyelocytic Leukemia |
|
Addictive alcohol use, Anorexia, Weight loss |
ORPHA:520 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vocal cord paralysis |
OMIM:168000 |
| Al Amyloidosis |
|
Weight loss, Abnormal autonomic nervous system physiology, Dysphagia, Postural hypotension with c... |
ORPHA:85443 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hyperactivity, Small for gestational age, Gait disturbance, Failure to thrive,... |
ORPHA:464306 |
| Polymyositis |
|
Anorexia, Weight loss |
ORPHA:732 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Irritability, Hypertonia, Abnormal social behavior, Abnormal aggressive, impul... |
ORPHA:1675 |
| Digeorge Syndrome |
|
Hydrocele testis, Ovarian cyst, Hypocalcemia, Low-set ears |
OMIM:188400 |
| Kleefstra Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutil... |
ORPHA:261494 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Erdheim-Chester Disease |
|
Polydipsia, Ataxia, Weight loss |
ORPHA:35687 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Poor coordination, Optic atrophy, Cachexia |
OMIM:610965 |
| Poems Syndrome |
|
Papilledema, Paresthesia, Hyperesthesia, Weight loss |
ORPHA:2905 |
| Scorpion Envenomation |
|
Restlessness, Hemifacial spasm, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus |
ORPHA:466677 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Aicardi-Goutieres Syndrome 7 |
|
Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Irritability, Hypertonia, ... |
OMIM:615846 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Clonus, Tremor, Hypertonia, Dysphagia, Failure to thrive |
OMIM:617248 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Impaired pain sensation, Hair-pulling, Obesity, Bruxism |
ORPHA:48652 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impairment, Renal hypophosph... |
ORPHA:289176 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Hyperactivity, Short attention span, Impulsivity, Aggressive behavior, Decreased ner... |
ORPHA:580 |
| Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Subependymal gia... |
ORPHA:805 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Neuroendocrine Tumor Of The Colon |
|
Anorexia, Weight loss |
ORPHA:100080 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Hyperactivity, Optic atrophy, Self-injurious behavior, Compulsive behaviors, Frequent temper tant... |
OMIM:619512 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Sandifer Syndrome |
|
Abnormal head movements, Torticollis |
ORPHA:71272 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Gliosis |
OMIM:617403 |
| Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Uterine leiomyoma, Hypercalcemia, Testicular neoplasm, Hypophosphatemia |
ORPHA:99880 |
| Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Spasticity, Abnormal repetitive mannerisms |
OMIM:301040 |
| Parathyroid Carcinoma |
|
Uterine leiomyoma, Hypercalcemia, Testicular neoplasm, Hypophosphatemia |
ORPHA:143 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Behçet Disease |
|
Ataxia, Anorexia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Irritability, Paresthesia |
ORPHA:117 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In... |
OMIM:601678 |
| Camurati-Engelmann Disease |
|
Ataxia, Facial palsy, Anorexia, Cachexia, Optic atrophy, Optic nerve compression, Slender build |
ORPHA:1328 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Arboleda-Tham Syndrome |
|
Dystonia, Optic atrophy, Lower limb hypertonia, Gait imbalance, Dysphagia, Abnormal repetitive ma... |
OMIM:616268 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Abnormal repetitive mannerisms, Obesity, Difficulty walking |
OMIM:618653 |
| Bronchial Neuroendocrine Tumor |
|
Anorexia, Weight loss |
ORPHA:97287 |
| Floating-Harbor Syndrome |
|
Hypospadias, Posteriorly rotated ears, Cryptorchidism, Glandular hypospadias, Low posterior hairl... |
OMIM:136140 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Failure to thrive, Ataxia, Apraxia |
ORPHA:99885 |
| Tyrosinemia, Type I |
|
Failure to thrive, Periodic paralysis |
OMIM:276700 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Weight loss |
ORPHA:100082 |
| Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia |
ORPHA:97286 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353281 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Adrenocortical Carcinoma |
|
Irritability, Increased body weight, Weight loss |
ORPHA:1501 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Small for gestational age, Poor coordination, Optic atrophy, Spastic diplegia, Abn... |
OMIM:309590 |
| Esophageal Atresia |
|
Small for gestational age, Failure to thrive in infancy, Hypertonia, Dysphagia, Oral aversion, Vo... |
ORPHA:1199 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Alveolar Echinococcosis |
|
Hemiparesis, Ataxia, Weight loss |
ORPHA:284 |
| Norrie Disease |
|
Clonus, Cachexia, Optic atrophy, Self-injurious behavior, Irritability, Hypertonia, Attention def... |
ORPHA:649 |
| Multiple Endocrine Neoplasia Type 2 |
|
Cervical neoplasm, Aganglionic megacolon, Hypercalcemia, Ganglioneuromatosis |
ORPHA:653 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Multiple Myeloma |
|
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Short attention span, Abnormal repetitive mannerisms, Obesity, Aggressive behavior |
OMIM:301066 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Weight loss |
ORPHA:100085 |
| Schinzel-Giedion Syndrome |
|
Aganglionic megacolon, Failure to thrive in infancy, Ependymoma, Vocal cord paralysis, Hypertonia... |
ORPHA:798 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Polyphagia |
OMIM:608594 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Small for gestational age, Optic atrophy, Inappropriate laughter, Attention defic... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Small for gestational age, Optic atrophy, Inappropriate laughter, Attention defic... |
ORPHA:363958 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Multiple Endocrine Neoplasia Type 4 |
|
Cervix cancer, Hypercalcemia, Testicular neoplasm |
ORPHA:276152 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Polyphagia |
OMIM:269700 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Failure to thrive, Dysphagia |
ORPHA:1018 |
| Simple Cryoglobulinemia |
|
Weight loss, Paresthesia, Spontaneous pain sensation |
ORPHA:91139 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivit... |
ORPHA:534 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss |
ORPHA:465508 |
| Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Blepharospasm, Irritability, Hypertonia, Attention deficit hyperactivity disorder, Decr... |
ORPHA:800 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Papilledema, Epididymal cyst |
ORPHA:892 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms |
OMIM:616682 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Weight loss |
ORPHA:100086 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:71273 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis, Optic atrophy |
ORPHA:324540 |
| Toxic Epidermal Necrolysis |
|
Polydipsia, Weight loss, Dysphagia |
ORPHA:537 |
| Williams Syndrome |
|
Ataxia, Failure to thrive in infancy, Involuntary movements, Tremor, Obesity, Dysmetria, Depressi... |
ORPHA:904 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Weight loss |
ORPHA:100075 |
| Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Tremor, Truncal obesity, Self-injurious behavior, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:612474 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
| Ogden Syndrome |
|
Torticollis, Irritability, Hypertonia, Dysphagia, Abnormal repetitive mannerisms |
OMIM:300855 |
| Juvenile Dermatomyositis |
|
Weight loss, Dysphagia |
ORPHA:93672 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Caroli Disease |
|
Anorexia, Weight loss |
ORPHA:53035 |
| Kikuchi-Fujimoto Disease |
|
Ataxia, Anorexia, Weight loss |
ORPHA:50918 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
| Q Fever |
|
Anorexia, Weight loss |
ORPHA:781 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Abnormal optic disc morphology, Abnormal repetitive mannerisms, Facial palsy |
ORPHA:508498 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... |
ORPHA:353277 |
| Familial Pancreatic Carcinoma |
|
Anorexia, Weight loss |
ORPHA:1333 |
| Primrose Syndrome |
|
Restlessness, Ataxia, Aggressive behavior, Truncal obesity, Self-injurious behavior, Tics, Attent... |
OMIM:259050 |
| Pontocerebellar Hypoplasia Type 7 |
|
Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculations, Spasticity |
ORPHA:284339 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Weight loss |
ORPHA:49041 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
| Hermansky-Pudlak Syndrome |
|
Anorexia, Weight loss |
ORPHA:79430 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Stevens-Johnson Syndrome |
|
Weight loss, Dysphagia |
ORPHA:36426 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Floating-Harbor Syndrome |
|
Hypospadias, Precocious puberty, Cryptorchidism, Cochlear malformation, Low-set ears, Epididymal ... |
ORPHA:2044 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Cranial nerve compression, Ependymoma, Weight loss, Depression |
ORPHA:652 |
| Thymoma |
|
Weight loss |
ORPHA:99867 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Trisomy 18 |
|
Hypertonia, Cachexia |
ORPHA:3380 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Hypertonia, Abnormal repetitive mannerisms, Spastic tetraparesis |
OMIM:301044 |
| Neutral Lipid Storage Myopathy |
|
Obesity, Difficulty walking, Fasciculations |
ORPHA:98908 |
| Degcags Syndrome |
|
Small for gestational age, Oral-pharyngeal dysphagia, Vocal cord paralysis, Choking episodes, Fai... |
OMIM:619488 |
| Sarcoidosis |
|
Abnormal reproductive system morphology, Alopecia, Facial palsy, Hypercalcemia |
ORPHA:797 |
| Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
| Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
| Postinfectious Vasculitis |
|
Weight loss, Anorexia, Abnormality of the peripheral nervous system |
ORPHA:48435 |
| Alström Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Incoordination, Ataxia, Obesity, Poor fine motor ... |
ORPHA:64 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Optic nerve compression, Optic atrophy, Hypocalcemic seizures |
OMIM:612301 |
| Sotos Syndrome |
|
Hypospadias, Hypercalcemia, Aganglionic megacolon, Phimosis, Cryptorchidism, Sparse anterior scal... |
ORPHA:821 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Anorexia |
ORPHA:1969 |
| Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
| Nijmegen Breakage Syndrome |
|
Cachexia, Glioma, Attention deficit hyperactivity disorder |
ORPHA:647 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Crimean-Congo Hemorrhagic Fever |
|
Confusion, Anorexia, Agitation, Fasciculations, Emotional lability |
ORPHA:99827 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Polydipsia |
OMIM:219800 |
| Microsporidiosis |
|
Cachexia, Anorexia, Weight loss |
ORPHA:2552 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Weight loss, Failure to thrive, Dysphagia |
ORPHA:2020 |
| Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Hypercalcemia, Sensorineural hearing impairment, Premature graying... |
OMIM:194050 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| Mowat-Wilson Syndrome |
|
Broad-based gait, Ataxia, Aganglionic megacolon, Impaired pain sensation, Inability to walk, Brux... |
ORPHA:2152 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Optic neuropathy, Anorexia |
OMIM:181000 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
| Granulomatosis With Polyangiitis |
|
Hemiplegia, Weight loss |
ORPHA:900 |
| Codas Syndrome |
|
Vocal cord paresis |
OMIM:600373 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Broad-based gait, Aganglionic megacolon, Impaired pain sensation, Inability to walk, Dysphagia, P... |
ORPHA:261537 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Primary Sclerosing Cholangitis |
|
Weight loss, Depression |
ORPHA:171 |
| Coffin-Siris Syndrome 12 |
|
Failure to thrive, Abnormal repetitive mannerisms, Facial palsy |
OMIM:619325 |
| Feingold Syndrome 1 |
|
Vocal cord paralysis |
OMIM:164280 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
| Fanconi Anemia |
|
Aganglionic megacolon, Weight loss |
ORPHA:84 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Broad-based gait, Aganglionic megacolon, Impaired pain sensation, Inability to walk, Optic atroph... |
ORPHA:261552 |
| Mucolipidosis Type Ii |
|
Weight loss |
ORPHA:576 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:309000 |
| Nocardiosis |
|
Anorexia, Weight loss |
ORPHA:31204 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal repetitive mannerisms, Failure to thrive, Small for gestational age |
OMIM:194190 |
| Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Anorexia, Weight loss |
ORPHA:91500 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Weight loss |
ORPHA:79078 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Anorexia, Increased body weight, Weight loss, Depression, Truncal obesity, Abdominal obesity, Emo... |
ORPHA:99889 |
| Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Marfan Syndrome |
|
Cachexia, Slender build, Attention deficit hyperactivity disorder |
ORPHA:558 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Chronic Graft Versus Host Disease |
|
Weight loss, Anorexia, Dysphagia |
ORPHA:99921 |
| Stickler Syndrome |
|
Hemiplegia/hemiparesis, Slender build, Cachexia |
ORPHA:828 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anorexia, Weight loss |
OMIM:619381 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
| Dermatomyositis |
|
Weight loss |
ORPHA:221 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair, Low-set ears |
OMIM:619910 |
