Behavioral Variant Of Frontotemporal Dementia |
|
Restlessness, Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Emotional blu... |
ORPHA:275864 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Optic atrophy, Limb dystonia, Upper motor neuron dysfunction, Violent behavior, Frequent falls, D... |
ORPHA:216873 |
Familial Infantile Bilateral Striatal Necrosis |
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Optic atrophy, Choreoathetosis, Babinski sign, Frequent falls, Hypertonia, Dysphagia, Gait ataxia... |
ORPHA:225154 |
Huntington Disease |
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Poor fine motor coordination, Suicidal ideation, Inability to walk, Choking episodes, Irritabilit... |
ORPHA:399 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Restlessness, Inappropriate behavior, Frontotemporal dementia, Aggressive behavior, Rigidity, Myo... |
OMIM:600795 |
Huntington Disease-Like 1 |
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Chorea, Aggressive behavior, Basal ganglia gliosis, Rigidity, Incoordination, Dysmetria, Depressi... |
OMIM:603218 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
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Chorea, Inappropriate behavior, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction... |
ORPHA:401901 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Chorea, Aggressive behavior, Falls, Delayed speech and language development, Poor coordination, A... |
OMIM:619150 |
Spinocerebellar Ataxia 17 |
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Gait ataxia, Chorea, Aggressive behavior, Frontal lobe dementia, Parkinsonism, Rigidity, Myoclonu... |
OMIM:607136 |
Basal Ganglia Calcification, Idiopathic, 5 |
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Chorea, Cognitive impairment, Parkinsonism, Apathy, Dementia, Depression, Anxiety, Motor tics, At... |
OMIM:615483 |
Inherited Creutzfeldt-Jakob Disease |
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Abnormal autonomic nervous system physiology, Babinski sign, Spastic hemiparesis, Bradykinesia, G... |
ORPHA:282166 |
Optic Atrophy 2 |
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Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Ataxia 48 |
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Gait ataxia, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetria, Tremor, Depression... |
OMIM:618093 |
Huntington Disease-Like 2 |
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Chorea, Inertia, Weight loss, Rigidity, Apathy, Action tremor, Depression, Anxiety, Irritability,... |
OMIM:606438 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
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Somatic sensory dysfunction, Spasticity, Shuffling gait, Frontal lobe dementia, Parkinsonism, Rig... |
OMIM:221820 |
Huntington Disease-Like 1 |
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Poor fine motor coordination, Abnormal head movements, Frequent falls, Jerky head movements, Brad... |
ORPHA:157941 |
Huntington Disease-Like 2 |
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Chorea, Weight loss, Parkinsonism, Gait disturbance, Dementia, Dystonia, Involuntary movements, M... |
ORPHA:98934 |
Paroxysmal Exertion-Induced Dyskinesia |
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Chorea, Aggressive behavior, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal d... |
ORPHA:98811 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
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Gait ataxia, Spasticity, Aggressive behavior, Spastic ataxia, Gait imbalance, Torticollis, Apathy... |
OMIM:618369 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
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Chorea, Self-injurious behavior, Inability to walk, Stereotypical hand wringing, Dystonia |
OMIM:618760 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Paralysis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia, Athetosis, Dystonia |
OMIM:300857 |
Chorea, Benign Hereditary |
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Chorea, Gait disturbance, Dementia, Frequent falls, Anxiety |
OMIM:118700 |
Striatonigral Degeneration, Infantile, Mitochondrial |
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Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Freq... |
OMIM:500003 |
Sporadic Creutzfeldt-Jakob Disease |
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Spasticity, Abnormal pyramidal sign, Cognitive impairment, Abnormality of extrapyramidal motor fu... |
ORPHA:204 |
Juvenile Huntington Disease |
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Gait ataxia, Chorea, Hyperactivity, Weight loss, Rigidity, Myoclonus, Dementia, Ataxia, Depressio... |
ORPHA:248111 |
Huntington Disease |
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Gait ataxia, Chorea, Rigidity, Gliosis, Depression, Bradykinesia |
OMIM:143100 |
Sydenham Chorea |
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Chorea, Inappropriate behavior, Hemiballismus, Emotional lability, Compulsive behaviors, Unsteady... |
ORPHA:306731 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
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Chorea, Spasticity, Self-injurious behavior, Inability to walk, Stereotypical hand wringing, Ocul... |
OMIM:614254 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
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Chorea, Gait disturbance, Dementia, Emotional lability, Dysphagia |
OMIM:607674 |
Frontotemporal Dementia With Motor Neuron Disease |
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Parkinsonism, Apraxia, Abnormality of extrapyramidal motor function, Paraparesis, Weakness due to... |
ORPHA:275872 |
Paroxysmal Non-Kinesigenic Dyskinesia |
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Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... |
ORPHA:98810 |
Sandhoff Disease, Adult Form |
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Gait ataxia, Spasticity, Anxiety, Focal dystonia, Tremor, Mental deterioration, Dysphagia, Dyston... |
ORPHA:309169 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
Dystonia 3, Torsion, X-Linked |
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Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Neurodegeneration With Brain Iron Accumulation |
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Chorea, Spasticity, Optic atrophy, Rigidity, Abnormality of extrapyramidal motor function, Dystonia |
ORPHA:385 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Chorea, Delayed speech and language development, Torticollis, Ataxia, Tremor, Hyperkinetic moveme... |
OMIM:618425 |
Childhood-Onset Benign Chorea With Striatal Involvement |
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Chorea, Parkinsonism with favorable response to dopaminergic medication, Anxiety |
ORPHA:494541 |
Autosomal Dominant Spastic Ataxia Type 1 |
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Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
Dystonia 11, Myoclonic |
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Writer's cramp, Torticollis, Myoclonus, Tremor, Depression, Anxiety, Agoraphobia, Alcoholism, Pan... |
OMIM:159900 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... |
OMIM:213600 |
Episodic Kinesigenic Dyskinesia 2 |
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Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
Dentatorubral-Pallidoluysian Atrophy |
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Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Dementia, Ataxia, Dystonia |
OMIM:125370 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
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Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tr... |
OMIM:619491 |
Episodic Ataxia, Type 1 |
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Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Spinocerebellar Ataxia 7 |
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Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D... |
OMIM:164500 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Gait ataxia, Somatic sensory dysfunction, Abnormal pyramidal sign, Truncal ataxia, Myoclonus, Lim... |
ORPHA:95434 |
Pandas |
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Chorea, Abnormal fear/anxiety-related behavior, Separation insecurity, Tics, Clumsiness, Emotiona... |
ORPHA:66624 |
Guanidinoacetate Methyltransferase Deficiency |
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Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal head movements, Abn... |
ORPHA:382 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Chorea, Anxiety, Resting tremor, Parkinsonism, Delayed speech and language development, Myoclonus... |
OMIM:619725 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Poor fine motor coordination, Chorea, Spasticity, Cognitive impairment, Motor deterioration, Dela... |
ORPHA:79263 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Inappropriate behavior, Spasticity, Aggressive behavior, Frontal lobe dementia, Apraxia, Myoclonu... |
OMIM:221770 |
Spinocerebellar Ataxia Type 1 |
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Chorea, Abnormal nerve conduction velocity, Cognitive impairment, Inertia, Dysdiadochokinesis, Po... |
ORPHA:98755 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Spasticity, Aggressive behavior, Hyperactivity, Delayed speech and language development, Large fo... |
ORPHA:356996 |
Parkinsonism-Dystonia 3, Childhood-Onset |
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Chorea, Aggressive behavior, Dysphagia, Anxiety, Impaired social interactions, Parkinsonism, Atax... |
OMIM:619738 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
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Chorea, Abnormal pyramidal sign, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Slurred speech, D... |
OMIM:618317 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Delayed speech and language development, Upper limb spasticity, Gait disturbance, Abnormal repeti... |
ORPHA:457240 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Chorea, Spasticity, Abnormal pyramidal sign, Decreased body weight, Inability to walk, Parkinsoni... |
OMIM:617672 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
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Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Delayed speech and language developme... |
ORPHA:71277 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Delayed speech and language development, Limb ataxia, Incoordination, At... |
OMIM:213200 |
3-Methylglutaconic Aciduria, Type Iii |
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Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Ataxia, Babinski... |
OMIM:258501 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
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Chorea, Restlessness, Dysphagia, Falls, Rigidity, Delayed speech and language development, Oculog... |
ORPHA:13 |
Frontotemporal Dementia |
|
Diminished motivation, Frontotemporal dementia, Frontal lobe dementia, Parkinsonism, Apathy, Deme... |
OMIM:600274 |
Dystonia With Ringbinden |
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Chorea, Delayed speech and language development, Dystonia, Gait disturbance |
OMIM:224550 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
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Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Pick Disease Of Brain |
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Diminished motivation, Frontotemporal dementia, Emotional blunting, Echolalia, Apathy, Inappropri... |
OMIM:172700 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Extrapyramidal dyskinesia, Parkinsonism, Apraxia, Paraparesis, Apathy, Abnormal lower motor neuro... |
OMIM:105550 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
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Gait ataxia, Chorea, Spasticity, Aggressive behavior, Abnormal pyramidal sign, Hyperactivity, Lim... |
ORPHA:500180 |
Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Absent speech, Cogwhe... |
OMIM:616981 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
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Gait ataxia, Chorea, Spasticity, Self-injurious behavior, Inability to walk, Stereotypical hand w... |
OMIM:618917 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... |
OMIM:606777 |
Progressive Supranuclear Palsy |
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Blepharospasm, Cognitive impairment, Falls, Rigidity, Delayed speech and language development, De... |
ORPHA:683 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... |
ORPHA:240103 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Spasticity, Aggressive behavior, Hyperactivity, Delayed speech and language development, Bruxism |
OMIM:615493 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti... |
OMIM:606159 |
Basal Ganglia Calcification, Idiopathic, 6 |
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Palilalia, Cognitive impairment, Parkinsonism, Choreoathetosis, Dementia, Depression, Involuntary... |
OMIM:616413 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Hyperactivity, Aggressive behavior, Self-injurious behavior, Upper limb spasticity, Myocl... |
ORPHA:485350 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
Striatonigral Degeneration, Infantile |
|
Spasticity, Optic atrophy, Choreoathetosis, Failure to thrive, Dysphagia, Dystonia |
OMIM:271930 |
Foxg1 Syndrome |
|
Paroxysmal bursts of laughter, Spasticity, Cognitive impairment, Decreased body weight, Inability... |
ORPHA:561854 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Dysphagia, Self-injurious behavior, Absent speech, Involuntary movements, Hyp... |
OMIM:617493 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Frequent falls, Dysphagia, Unsteady gait |
OMIM:615945 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Ataxia, Hemiplegia, Agitation, Tremor, Anxiety |
OMIM:141500 |
Rabies |
|
Paresthesia, Cerebral palsy, Attention deficit hyperactivity disorder, Depression, Anxiety, Vocal... |
ORPHA:770 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Myoclonus, Gliosis, Hypertonia, Dysphagia |
OMIM:225753 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Cognitive impairment, Ataxia, Babinski sign, Tremor |
OMIM:611105 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Inability to wal... |
ORPHA:276435 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Abnormal repetitive mannerisms, Torsion dystonia, Fo... |
ORPHA:98807 |
Facial Onset Sensory And Motor Neuronopathy |
|
Dysphagia, Paresthesia, Fasciculations |
ORPHA:85162 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Increased body mass index, Anxiety, Small for gestational age, Delayed speech and lan... |
OMIM:300957 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Hand tremor, Gliosis, Tetraplegia, Distal sensory impairment... |
OMIM:604484 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Pica, Aggressive behavior, Self-injurious behavior, Spastic diplegia, Delayed speech and language... |
OMIM:617270 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Anxiety, Myoclonus, Choreoathetosis, Paroxysmal dyskines... |
OMIM:606703 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Postural tremor, Parkinsonism, Dementia, Kinetic tremor, Progressive cerebel... |
ORPHA:98756 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Porphyria, Acute Hepatic |
|
Failure to thrive, Paralysis, Paresthesia, Respiratory paralysis |
OMIM:612740 |
Developmental And Epileptic Encephalopathy 97 |
|
Delayed speech and language development, Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Spastic tetraplegia, Appendicular spasticity, Clonus, Irritability |
OMIM:613811 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Recurrent hand flapping, Hand tremor, Absent speech, Dysphagia, Broad-based gait |
OMIM:617862 |
Machado-Joseph Disease |
|
Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:109150 |
Hereditary Late-Onset Parkinson Disease |
|
Orthostatic hypotension due to autonomic dysfunction, Shuffling gait, Weight loss, Resting tremor... |
ORPHA:411602 |
Spinocerebellar Ataxia 50 |
|
Chorea, Froment sign, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor |
OMIM:620158 |
Atypical Rett Syndrome |
|
Inability to walk, Hand apraxia, Gait ataxia, Spasticity, Agitation, Inappropriate laughter, Pani... |
ORPHA:3095 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Inability to walk, Cachexia, Axial dystonia, Difficulty walking, Hypertonia, Dysphagia, Arm dysto... |
ORPHA:300605 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Spasticity, Blepharospasm, Optic atrophy, Optic disc pallor, Rigidity, Clumsiness, Myoclo... |
OMIM:617282 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Myoclonus, Agitation, Failure to thrive, Tremor, Anxiety, Dystonia |
OMIM:619651 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Myoclonus, Gait disturbance, Dementia, Lo... |
OMIM:168601 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Emotional lability, Tremor, Depression, Anxiety, Dysphagia, Unsteady g... |
OMIM:128235 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Motor deterioration, Clumsiness, Abnor... |
ORPHA:79262 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Dysphagia, Inability to walk, Rigidity, Paraparesis... |
OMIM:607483 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Myoclonus, Intractable, Neonatal |
|
Chorea, Optic disc pallor, Myoclonus, Impaired oral bolus formation, Dysphagia, Athetosis |
OMIM:617235 |
Focal Cortical Dysplasia, Type Ii |
|
Hemiparesis, Astrocytosis |
OMIM:607341 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Happy demeanor, Ataxia, Absent speech, Inappropriate laughter, Polyphagia, Obesity... |
ORPHA:411515 |
Mepan Syndrome |
|
Chorea, Spasticity, Optic atrophy, Limb dystonia, Hemidystonia, Myoclonus, Gait disturbance, Atax... |
ORPHA:508093 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Hemimegalencephaly |
|
Optic atrophy, Hemiparesis, Myoclonus, Gliosis, Abnormal neuron morphology |
ORPHA:99802 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Spasticity, Optic atrophy, Gait disturbance, Emotional lability, Gliosis, Unsteady gait, Lethargy... |
OMIM:603896 |
Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Tetraplegia, Gliosis, Clonus |
OMIM:614959 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Infantile Dystonia-Parkinsonism |
|
Chorea, Abnormal pyramidal sign, Limb hypertonia, Parkinsonism, Cerebral palsy, Oculogyric crisis... |
ORPHA:238455 |
Huntington Disease-Like 3 |
|
Chorea, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Extrapyramidal dyskinesia, Abn... |
ORPHA:157946 |
Infantile Convulsions And Choreoathetosis |
|
Chorea, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Dystonia |
ORPHA:31709 |
Myoclonus-Dystonia Syndrome |
|
Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus, Compulsive behaviors, D... |
ORPHA:36899 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Gait ataxia, Chorea, Inability to walk, Ataxia, Absent speech, Dysmetria |
OMIM:618501 |
Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Delayed speech and language development, Myoclonus, Choreoathetosis, Limb ... |
OMIM:616230 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Self-injurious behavior, Spastic tetraplegia, Absent speech, Anxiety, Athetosis, Dystonia |
OMIM:619922 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Progressive neurologic deterioration, Hypertonia, Dysphagia, ... |
OMIM:261630 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Aggressive behavior, Hyperactivity, Optic atrophy, Delayed speech and language develo... |
OMIM:300983 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Neuroferritinopathy |
|
Chorea, Blepharospasm, Cognitive impairment, Resting tremor, Frontal lobe dementia, Writer's cram... |
ORPHA:157846 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Neuromuscular dysphagia, Falls, Anxiety, Rigidity, Apathy, Parkinsonism with favorable response t... |
ORPHA:240085 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Orthostatic hypotension due to autonomic dysfunction, Spasticity, Pseudobulbar paralysis, Ataxia,... |
OMIM:169500 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... |
ORPHA:53351 |
Autosomal Dominant Cerebellar Ataxia |
|
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... |
ORPHA:99 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Hyperactivity, Delayed speech and language development, Myoc... |
OMIM:615924 |
Progressive Non-Fluent Aphasia |
|
Restlessness, Frontotemporal dementia, Memory impairment, Anxiety, Deficit in grammar, Parkinsoni... |
ORPHA:100070 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Delayed speech and language development, Spast... |
OMIM:619470 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Athetosis, Dystonia, Absent speech |
OMIM:615473 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor |
ORPHA:217012 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Truncal ataxia, Progressive gait ataxia, Paralysis, Limb ataxia, Bab... |
ORPHA:101112 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment, Gliosis |
OMIM:604218 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Frontolimbic dementia, Falls, Akinesia, Parkinsonism, Rigidity, Limb dystonia, Eyeli... |
OMIM:601104 |
Pelizaeus-Merzbacher Disease |
|
Inability to walk, Optic atrophy, Choreoathetosis, Spastic paraplegia, Dysphagia, Writer's cramp,... |
OMIM:312080 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Torticollis, Apathy, Ataxia, Irritability |
ORPHA:71518 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Delayed speech and language development, Myoclonus, Abnormal... |
OMIM:605407 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Aggressive behavior, Inability to walk, Emotional lability, Absent speech, Tremor, Inappropriate ... |
OMIM:616269 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Extrapyramidal dyskinesia, Optic atrophy, Dystonia, Gliosis, Dysphagia, Opisthotonus, Res... |
OMIM:277470 |
Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking |
ORPHA:423296 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Spasticity, Dystonia, Myoclonus |
OMIM:616139 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Paresthesia, Vocal cord paralysis |
ORPHA:640 |
2P21 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Hypocalcemia, Long eyelashes, Hypogonadism |
ORPHA:163693 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Hyperactivity, Cerebral palsy, Delayed speech and language development, Recurrent hand fl... |
OMIM:617600 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Emotional lability, Babinsk... |
OMIM:615362 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Inability to walk, Optic atrophy, Frequent falls, Speech articulati... |
ORPHA:845 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Cognitive impairment, Truncal ataxia, O... |
OMIM:208920 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
Dopa-Responsive Dystonia |
|
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Lethargy, Co... |
ORPHA:255 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
2Q23.1 Microdeletion Syndrome |
|
Paroxysmal bursts of laughter, Hyperactivity, Self-injurious behavior, Delayed speech and languag... |
ORPHA:228402 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Spasticity, Hyperactivity, Dysdiadochokinesis, Optic atrophy, Delayed speech... |
OMIM:610217 |
Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio... |
ORPHA:71517 |
Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Inability to walk, Myoclonus, Choreoathetosis, Ataxia, Absent speech, Hyperkinetic moveme... |
OMIM:619317 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis, Oral-pharyngeal dysphagia |
OMIM:616286 |
Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Dementia |
OMIM:118750 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Distal sensory impairment |
OMIM:605285 |
Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor, Optic atrophy, Optic disc pallor |
OMIM:165300 |
Early-Onset X-Linked Optic Atrophy |
|
Gait ataxia, Dysdiadochokinesis, Optic atrophy, Choreoathetosis, Emotional lability, Babinski sig... |
ORPHA:98890 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Folinic Acid-Responsive Seizures |
|
Chorea, Optic atrophy, Ataxia, Spastic tetraparesis, Difficulty walking, Hypertonia, Irritability... |
ORPHA:79097 |
Spinocerebellar Ataxia 1 |
|
Optic atrophy, Truncal ataxia, Babinski sign, Dysphagia, Spasticity, Decreased motor nerve conduc... |
OMIM:164400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, Hostility, Decreased body weight, Inability to walk, Progressive spasticity, Rigidity, Re... |
OMIM:300260 |
Gordon Holmes Syndrome |
|
Chorea, Ataxia, Dementia |
OMIM:212840 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Recurrent hand flapp... |
ORPHA:100973 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Myoclonus, Choreoathetosis, Absent speech, Failure to thrive, Irritability |
OMIM:609056 |
Leigh Syndrome |
|
Spasticity, Optic atrophy, Ataxia, Emotional lability, Failure to thrive, Gliosis, Dystonia |
OMIM:256000 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Frontotemporal dementia, Parkinsonism, Apraxia, Hypersexuality, Apathy, Repetitive compulsive beh... |
OMIM:607485 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Paroxysmal bursts of laughter, Spasticity, Hyperactivity, Self-injurious behavior, Inability to w... |
OMIM:618718 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Delayed speech and language development, Choreoathetosis, Absent speech, Ataxia, T... |
OMIM:619422 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Bradykinesia, Shuffling gait, Spastic tetraplegia, Spastic gait, Resting tremor, De... |
OMIM:300055 |
Developmental And Epileptic Encephalopathy 56 |
|
Poor coordination, Ataxia, Attention deficit hyperactivity disorder, Action tremor, Anxiety, Broa... |
OMIM:617665 |
Hsd10 Disease |
|
Optic atrophy, Rigidity, Delayed speech and language development, Myoclonus, Choreoathetosis, Abn... |
ORPHA:391417 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Spasticity, Inability to walk, Ataxia, Failure to thrive, Progressive neurologic deterior... |
ORPHA:70472 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Progressive spastic paraplegia, Spasticity, Shyness, Spastic dysarthria, Abnormal repetitive mann... |
ORPHA:280763 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Tip-... |
ORPHA:397946 |
Horner Syndrome, Congenital |
|
Paralysis, Congenital Horner syndrome |
OMIM:143000 |
Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Resting tremor, Optic atrophy, Ataxia, Progressive extrapyramidal movement disorder, Diff... |
ORPHA:401768 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Poor coordination, Delayed speech and language development, R... |
OMIM:309548 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Absent speech, Agitation, Tremor... |
OMIM:617435 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Hyperactivity, Inability to walk, Rigidity, Delayed speech and language development,... |
OMIM:618090 |
Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Delayed speech and language development, Oculomotor apra... |
ORPHA:251347 |
Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... |
ORPHA:98759 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cognitive impairment, Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response ... |
ORPHA:314632 |
Angelman Syndrome |
|
Inability to walk, Optic atrophy, Happy demeanor, Dysphagia, Aggressive behavior, Inappropriate l... |
ORPHA:72 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Hippocampal sclerosis, Myoclonus, Tremor |
OMIM:615400 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Chorea, Failure to thrive, Choreoathetosis, Athetosis |
OMIM:309541 |
Friedreich Ataxia |
|
Poor fine motor coordination, Gait ataxia, Spasticity, Chorea, Gait imbalance, Falls, Impaired vi... |
ORPHA:95 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dysphagia, Bradykinesia, Gait ataxia, Aggressive behavior, Dysmetria, Limb fascicu... |
OMIM:615157 |
Christianson Syndrome |
|
Gait ataxia, Truncal ataxia, Cachexia, Abnormal repetitive mannerisms, Absent speech, Inappropria... |
ORPHA:85278 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Paralysis, Amyotrophic lateral sclerosis, Parkinsonism |
OMIM:105500 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Stereotypical hand wringing, Myoclonus, Choreoathetosis, Absent speech, Hyperk... |
OMIM:618497 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Froment sign, Decreased motor nerve conduction velocity, Hypoesthesia, Vocal cord paralysis, Hand... |
OMIM:162500 |
Cln5 Disease |
|
Spasticity, Aggressive behavior, Hyperactivity, Anxiety, Dysdiadochokinesis, Truncal ataxia, Clum... |
ORPHA:228360 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Cognitive impairment, Tip-toe gait, Delayed speech and language developm... |
OMIM:617284 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... |
OMIM:616053 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Lethargy, Bradykinesia, Ataxia |
OMIM:618683 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Abnormal lower motor ... |
ORPHA:2590 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tr... |
OMIM:617225 |
X-Linked Creatine Transporter Deficiency |
|
Chorea, Hyperactivity, Delayed speech and language development, Aganglionic megacolon, Cachexia, ... |
ORPHA:52503 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Cognitive impairment, Parkinsonism, Motor deterioration, Clumsiness... |
ORPHA:79264 |
Early-Onset Schizophrenia |
|
Suicidal ideation, Lack of peer relationships, Low self esteem, No social interaction, Shyness, C... |
ORPHA:96369 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Abnormality of the s... |
ORPHA:90117 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Distal sensory impairment |
OMIM:613710 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Cognitive impairment, Tremor by anatomical... |
ORPHA:98762 |
Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Cognitive impairment, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia... |
ORPHA:101109 |
Choreoacanthocytosis |
|
Hair-pulling, Blepharospasm, Limb dystonia, Abnormal autonomic nervous system physiology, Self-mu... |
ORPHA:2388 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Spasticity, Exaggerated startle response, Spastic tetraplegia, Inability to walk, Absent ... |
OMIM:617864 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Absent speech, Babinski sign, Ataxia, Positive Romberg sign, Dysmetr... |
OMIM:618088 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Poor coordination, Recurrent hand flapping, Impulsivity, Irritability |
OMIM:619717 |
Baker-Gordon Syndrome |
|
Self-injurious behavior, Inability to walk, Choreoathetosis, Ataxia, Absent speech, Involuntary m... |
OMIM:618218 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions, Inappropriate... |
ORPHA:397933 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Myoclonus, Dementia, Tremor, Frequent falls, Difficulty walk... |
OMIM:159950 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Dysphagia, Unsteady gait, In... |
OMIM:302500 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Substantia nigra gliosis, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Orthostatic hypotension due to autonomic dysfunction, Spasticity, Optic atrophy, Progress... |
ORPHA:309271 |
Acute Peripheral Arterial Occlusion |
|
Impaired distal tactile sensation, Paralysis, Paresthesia |
ORPHA:90064 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Cognitive impairment, Truncal ataxia, Limb ataxia, Babinski sign, Tremo... |
OMIM:615768 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Chorea, Resting tremor, Parkinsonism, Titubation, Inappropriate crying, Gait disturb... |
ORPHA:225147 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, La... |
ORPHA:101075 |
Fragile X Tremor/Ataxia Syndrome |
|
Poor fine motor coordination, Gait ataxia, Impaired distal vibration sensation, Bradykinesia, Dys... |
OMIM:300623 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia, Mental deterioration |
OMIM:616187 |
Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Depressi... |
OMIM:604326 |
Leukodystrophy, Hypomyelinating, 16 |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Delayed speech and language development, Ch... |
OMIM:617964 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebral palsy, Spastic tetraplegia, Limb hypertonia, Ataxia, Babinski sign, Gliosis, Optic disc ... |
OMIM:612936 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Decreased motor nerve conduction velocity, Decreased amplitude of senso... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Optic atrophy, Decreased motor nerve conduction velocity, Babinski sign, Decreased se... |
OMIM:609260 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Delayed speech and language development, Oculomotor apra... |
OMIM:604391 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Limb hypertonia, Optic atrophy, Myoclonic spasms, Rigidity, Abnormal autonomic nervous system phy... |
OMIM:614498 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Ataxia, Trem... |
OMIM:261640 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Gliosis, Mental deterioration |
OMIM:613002 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Titubation, Ataxia, Absent speech, Dystonic gait, Failure to thrive, Difficult... |
ORPHA:280210 |
Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Mental deterioration, Dy... |
OMIM:614820 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Rigidity, Ataxia, Decreased nerve conduction velocity, Bradykinesia, Fasciculations |
OMIM:183050 |
Myopathy With Extrapyramidal Signs |
|
Chorea, Hyperactivity, Optic atrophy, Delayed speech and language development, Clumsiness, Choreo... |
OMIM:615673 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Poor fine motor coordination, Somatic sensory dysfunction, Paresthesia, Postural tremor, Optic at... |
ORPHA:99947 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Upper limb postural tremor, Limb dystonia, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
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 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Hyperactivity, Shuffling gait, Abnor... |
ORPHA:3077 |
Combined Saposin Deficiency |
|
Optic atrophy, Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations |
OMIM:611721 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Spastic tetraplegia, Cerebral palsy, Small for gestational age, Limb dystonia, Myoclo... |
OMIM:619847 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait, Fasciculations |
OMIM:606595 |
Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... |
ORPHA:454887 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal choreoathetosis, Torticollis, Paroxysmal dystonia, Dysphagia |
OMIM:118800 |
Sandhoff Disease, Juvenile Form |
|
Abnormal pyramidal sign, Cognitive impairment, Abnormality of extrapyramidal motor function, Gait... |
ORPHA:309162 |
Late-Infantile/Juvenile Krabbe Disease |
|
Upper motor neuron dysfunction, Frequent falls, Difficulty walking, Acroparesthesia, Neuromuscula... |
ORPHA:206443 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Inability to walk, Absent speech, Difficulty walking, Slender build, Astrocytosis |
OMIM:611087 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Delayed speech and language development, Myoclonus, Choreoathetosis, Dementia, At... |
OMIM:301020 |
Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Abnormal pyramidal sign, Cognitive impairment, Spastic at... |
OMIM:616795 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Apathy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia, Disinhi... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Apathy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Dysphagia, Disinhi... |
OMIM:616437 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Frontotemporal dementia, Motor neuron atrophy, Inertia, Falls, Parkinsoni... |
ORPHA:412066 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Sneddon Syndrome |
|
Chorea, Hemiparesis, Dementia, Tremor, Mental deterioration, Memory impairment |
ORPHA:820 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Isaacs Syndrome |
|
Distal sensory impairment, Weight loss, Fasciculations |
ORPHA:84142 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Progressive neurologic deterioration, Dysphag... |
OMIM:233910 |
L-2-Hydroxyglutaric Aciduria |
|
Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor function, Ataxia, Spa... |
OMIM:236792 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Impaired social interactions, Delayed speech and language development, Recurrent hand flapping, P... |
ORPHA:544254 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor, Enhancement of the C-reflex |
OMIM:615127 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Falls, Apathy, Short stepped shuffling ga... |
ORPHA:306692 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Dysmetria, Attention deficit hyperactivity disorder, Difficulty walking, Depre... |
OMIM:619191 |
Huntington Disease-Like 3 |
|
Chorea, Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia... |
OMIM:604802 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Tremor, Ataxia, Absent speech |
OMIM:618951 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Spasticity, Choreoathetosis, Expressive language delay, Irritability, Dystonia |
OMIM:614249 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Gait ataxia, Impaired distal vibration sensation, Abnormal pyramidal sign, Decreased motor nerve ... |
OMIM:616688 |
Riboflavin Transporter Deficiency |
|
Aggressive behavior, Abnormal autonomic nervous system physiology, Myoclonus, Cachexia, Ataxia, T... |
ORPHA:97229 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower lim... |
OMIM:617916 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Spastic tetraplegia, Impaired social interactions, Optic atrophy, Delaye... |
OMIM:256600 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Rigidity, Myoclonus, Limb ataxia,... |
ORPHA:98763 |
Myopathy, spheroid body |
|
Dysphagia, Tremor, Broad-based gait, Waddling gait |
OMIM:182920 |
Developmental And Epileptic Encephalopathy 69 |
|
Spastic tetraplegia, Inability to walk, Myoclonus, Absent speech, Hyperkinetic movements, Dystonia |
OMIM:618285 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cortical myoclonus, Spasticity, Aggressive behavior, Hyperactivity, Inability to walk, Motor dete... |
ORPHA:168491 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Enhancement of the C-reflex, Difficulty walking, Giant somatosensory evoked po... |
OMIM:613608 |
Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis, Lethargy |
OMIM:617065 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady ... |
OMIM:617917 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Progressive gait ataxia, Myoclonus, Emotional lability, Babinski sign, Spastic par... |
ORPHA:254343 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hirsutism, Hypercholesterolemia |
OMIM:612526 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Enhancement of the C-reflex, Giant somatosensory evoked potentials |
OMIM:601068 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Chorea, Spasticity, Cerebral palsy, Choreoathetosis, Absent speech, Babinski sign, Hypertonia, Dy... |
OMIM:618451 |
Nasu-Hakola Disease |
|
Chorea, Spasticity, Frontal lobe dementia, Oculomotor apraxia, Disinhibition, Irritability, Memor... |
ORPHA:2770 |
Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia |
ORPHA:100025 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Metachromatic Leukodystrophy |
|
Chorea, Tetraplegia, Spastic tetraplegia, Optic atrophy, Gait disturbance, Emotional lability, Ba... |
OMIM:250100 |
Multiple System Atrophy, Cerebellar Type |
|
Gait ataxia, Neuromuscular dysphagia, Orthostatic hypotension due to autonomic dysfunction, Abnor... |
ORPHA:227510 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Pontocerebellar Hypoplasia, Type 1A |
|
Basal ganglia gliosis, Degeneration of anterior horn cells, Hand tremor, Limb ataxia, Ataxia, Dys... |
OMIM:607596 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Cognitive impairment, Echolalia, Emotional lability, Abnormal repetitive mannerisms, Ataxia, Fail... |
ORPHA:927 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal vibration sensation, Decreased motor nerve conduction velocity, Decreased distal ... |
OMIM:607706 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Palilalia, Neuromuscular dysphagia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Ocu... |
ORPHA:240094 |
Developmental And Epileptic Encephalopathy 64 |
|
Chorea, Limb hypertonia, Inability to walk, Hemiparesis, Absent speech, Dystonia |
OMIM:618004 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Aggressive behavior, Weight loss, Parkinsonism, Truncal ataxia, Rigidity... |
OMIM:137440 |
Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Inappropriate behavior, Exaggerated startle response, Abnormal pyramidal sign, Abnormal f... |
ORPHA:309246 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Delayed speech and language dev... |
OMIM:614298 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
Urocanase Deficiency |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Chorea, Inability to walk, Spastic tetraplegia, Absent speech, Failure to thrive |
OMIM:620071 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Inability to walk, Decreased motor nerve conduction velocity, Gait d... |
ORPHA:101077 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Impulsivity, Lower limb spasticity |
OMIM:619028 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Small for gestational age, Spasticity, Gliosis, Hypertonia |
OMIM:615095 |
Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Frontolimbic dementia, Falls, Postural tremor, Parkinsonism, Rigidity, Eyelid apraxi... |
OMIM:609454 |
Hsd10 Mitochondrial Disease |
|
Spasticity, Aggressive behavior, Spastic tetraplegia, Optic atrophy, Delayed speech and language ... |
OMIM:300438 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Spasticity, Ankle clonus, Babinski sign, Abnormal lower motor neuron morphology, Tetraparesis, Am... |
OMIM:613954 |
Niemann-Pick Disease Type C |
|
Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Axial dystonia, Frequent falls, Dysphag... |
ORPHA:646 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Inappropriate behavior, Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Falls,... |
ORPHA:99750 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Limb hypertonia, Involuntary movements, Rigidity, Delayed speech and language develop... |
ORPHA:442835 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Aggressive behavior, Hyperactivity, Oculomotor apraxia, Choreoathetosis, Ataxia, Trem... |
OMIM:612716 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Gliosis, Lower limb spasticity |
OMIM:615119 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Generalized dystonia, Aggressive behavior, Spastic tetraplegia, Delayed spee... |
OMIM:618321 |
6Q16 Microdeletion Syndrome |
|
Poor coordination, Delayed speech and language development, Polyphagia, Obesity, Broad-based gait |
ORPHA:171829 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Cognitive impairment, Rigidity, Decreased motor nerve conduction vel... |
OMIM:603472 |
Developmental And Epileptic Encephalopathy 78 |
|
Chorea, Spasticity, Inability to walk, Cerebral palsy |
OMIM:618557 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking, Memory impairment |
OMIM:614018 |
Kufor-Rakeb Syndrome |
|
Spasticity, Aggressive behavior, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Park... |
OMIM:606693 |
Choreoacanthocytosis |
|
Progressive choreoathetosis, Aggressive behavior, Parkinsonism, Tics, Emotional lability, Dementi... |
OMIM:200150 |
Perry Syndrome |
|
Weight loss, Parkinsonism, Abnormality of extrapyramidal motor function, Apathy, Tremor, Depression |
ORPHA:178509 |
Rett Syndrome, Congenital Variant |
|
Chorea, Spasticity, Impaired social interactions, Apraxia, Inappropriate crying, Absent speech, A... |
OMIM:613454 |
Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Cognitive impairment, Postural tremor, Parkinsonism, Delaye... |
OMIM:612067 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Basal ganglia gliosis, Inability to walk, Small for gestational age, Cerebellar gliosis, Ataxia, ... |
ORPHA:79243 |
Nmda Receptor Encephalitis |
|
Chorea, Orthostatic hypotension, No social interaction, Involuntary movements, Rigidity, Hypersex... |
ORPHA:217253 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Optic atrophy, Choreoathetosis, Hemiplegia/hemiparesis, Lethargy, Dystonia |
ORPHA:289916 |
Rett Syndrome |
|
Inability to walk, Stereotypical hand wringing, Limb apraxia, Abnormal autonomic nervous system p... |
ORPHA:778 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Motor neuron atrophy, Paralysis, Emotional lability, Agitation, Amyotrophic lateral s... |
ORPHA:803 |
Amyotrophic Lateral Sclerosis 1 |
|
Spasticity, Degeneration of anterior horn cells, Pseudobulbar paralysis, Amyotrophic lateral scle... |
OMIM:105400 |
Infantile Neuroaxonal Dystrophy |
|
Spasticity, Abnormal pyramidal sign, Hyperactivity, Abnormality of peripheral nerve conduction, O... |
ORPHA:35069 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Dysdiadochokinesis, Postural tremor, Parkinsonism, Oculomotor apraxia, Rigidity, Myoc... |
OMIM:183090 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Progressive spastic paraparesis, Aggressive behavior, Hyperactivity,... |
ORPHA:43 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired vibration sensation at ankles, Ankle clonus, Postural tremor, Optic atrop... |
OMIM:615491 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Delayed speech and language development, Apraxia, Gait... |
OMIM:300423 |
Manganese Poisoning |
|
Aggressive behavior, Postural tremor, Akinesia, Abnormality of extrapyramidal motor function, Hyp... |
ORPHA:306682 |
Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Limb ataxia, Hand tremor, Gait distur... |
ORPHA:98764 |
Oromandibular Dystonia |
|
Blepharospasm, Weight loss, Lingual dystonia, Limb dystonia, Torticollis, Depression, Dysphagia, ... |
ORPHA:93958 |
Perry Syndrome |
|
Inappropriate behavior, Suicidal ideation, Parkinsonism, Rigidity, Weight loss, Apathy, Tremor, D... |
OMIM:168605 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Small for gestational age, Delayed speech and language development, Torticollis, Choreoathetosis,... |
OMIM:619054 |
Developmental And Epileptic Encephalopathy 110 |
|
Chorea, Spasticity, Absent speech, Pain insensitivity, Bruxism |
OMIM:620149 |
3-Methylglutaconic Aciduria Type 3 |
|
Spastic paraparesis, Choreoathetosis, Gait disturbance, Ataxia |
ORPHA:67047 |
Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Gait disturbance, Impaired pain sensation, Inappropriate laughter, D... |
ORPHA:505652 |
Amyotrophic Lateral Sclerosis 18 |
|
Dysphagia, Spasticity, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:614808 |
Hypotonia-Cystinuria Syndrome |
|
Macrotia, Long eyelashes, Hypergonadotropic hypogonadism, Hypocalcemia, Posteriorly rotated ears,... |
OMIM:606407 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Paraparesis, Gait disturbance, Ataxia, Impaire... |
ORPHA:99014 |
Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Aggressive behavior, Anxiety, Parkinsonism, Rigidity, Delayed speech and language development, Ak... |
OMIM:300894 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Distal sensory impairment, Neuromyotonia, Fasciculations |
OMIM:137200 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Motor conduction block, Abnormality of somatosensory evoked potentia... |
ORPHA:206594 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Impaired social interactions, Delayed speech and language development, Polyp... |
ORPHA:329249 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cognitive impairment, Shuffling gait, Paresthesia, Optic atrophy, Parkinsonism with favorable res... |
ORPHA:254886 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Spasticity, Inability to walk, Loss of ability to walk in early childhood, Facial diplegia, Failu... |
OMIM:612073 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Difficulty walking, Fasciculations |
OMIM:615575 |
Insulinoma |
|
Paresthesia, Abnormality of pain sensation, Tremor, Polyphagia, Anxiety, Lethargy, Transient glob... |
ORPHA:97279 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia |
OMIM:104290 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Substantia ... |
OMIM:168600 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
3-Methylglutaconic Aciduria, Type Ix |
|
Spasticity, Aggressive behavior, Optic atrophy, Delayed speech and language development, Choreoat... |
OMIM:617698 |
Spinocerebellar Ataxia 19 |
|
Gait ataxia, Cognitive impairment, Postural tremor, Truncal ataxia, Myoclonus, Limb ataxia, Cogwh... |
OMIM:607346 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Gait imbalance, Recurrent hand flapping, Myoclonus, Happy demeanor, Absent speech,... |
ORPHA:98794 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity |
ORPHA:101078 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Decreased motor nerve conduction velocity, Paraparesis, Hand tremor, Incoordination... |
OMIM:302800 |
Spinocerebellar Ataxia 47 |
|
Chorea, Spasticity, Delayed speech and language development, Ataxia, Dysmetria |
OMIM:617931 |
Brain-Lung-Thyroid Syndrome |
|
Chorea, Hyperactivity, Falls, Abnormal drinking behavior, Apraxia, Clumsiness, Myoclonus, Choreoa... |
ORPHA:209905 |
Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Truncal ataxia, Limb ataxia, Hand tremor, Ataxia, Babinski sign, Dysmetria, Head ... |
ORPHA:276198 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Impaired distal tactile s... |
OMIM:600882 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Gait disturbance, Tremor, Orthostatic hypotension, Bradykinesia |
OMIM:616710 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Cognitive impairment, Incoordination, Ataxia, Obsessive-compulsive ... |
ORPHA:36387 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Progressive ga... |
OMIM:606002 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Aggressive behavior, Rigidity, Delayed speech and language development, Paraparesis, Myoclonus, A... |
OMIM:612736 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Impaired distal proprioception, Impaired vibration sensation in the... |
ORPHA:137898 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Cognitive impairment, Dysdiadochokinesis, Oculomotor apraxi... |
OMIM:617145 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Optic atrophy, Delayed speech and language development, Abnormal social behavior, ... |
ORPHA:530983 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Poor fine motor coordination, Dysdiadochokinesis, Truncal ataxia, Rigidity, Gait disturbance, Spa... |
ORPHA:309854 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Pronoun reversal, Pica, Echolalia, Delayed speech and language development, Recurrent hand flappi... |
OMIM:615032 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Multiple System Atrophy, Parkinsonian Type |
|
Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Abnormal pyramidal sign, Postu... |
ORPHA:98933 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Palilalia, Optic atrophy, Limb dystonia, Choreoathetosis, Speech articulation difficulties, Spast... |
ORPHA:157850 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Abnormal pyramidal sign, Degeneration of anterior horn cells, Progressive gait ataxia... |
ORPHA:276244 |
Behr Syndrome |
|
Optic atrophy, Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babinski sign, D... |
OMIM:210000 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Pica, Hyperactivity, Progressive spasticity, Tics, Happy demeanor, Absent speech, Ataxia, Failure... |
OMIM:617865 |
Alternating Hemiplegia Of Childhood |
|
Chorea, Aggressive behavior, Abnormal pyramidal sign, Rigidity, Delayed speech and language devel... |
ORPHA:2131 |
Primary Angiitis Of The Central Nervous System |
|
Pseudopapilledema, Parkinsonism, Hemiparesis, Paraparesis, Paralysis, Ataxia, Tetraparesis |
ORPHA:140989 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Optic atrophy, Oculogyric crisis, Absent speech, Tremor, Difficulty walking, D... |
ORPHA:330050 |
Young-Onset Parkinson Disease |
|
Spasticity, Cognitive impairment, Gait imbalance, Frontal lobe dementia, Impaired social interact... |
ORPHA:2828 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Gait ataxia, Paroxysmal bursts of laughter, Aggressive behavior, Echolalia, Limb hypertonia, Inab... |
OMIM:619580 |
Valinemia |
|
Hyperkinetic movements, Failure to thrive |
OMIM:277100 |
Oculoskeletodental Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the frontal hairl... |
ORPHA:557003 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Spasticity, Inability to walk, Optic atrophy, Apraxia, Delayed speech and language d... |
OMIM:617810 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... |
OMIM:600363 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Spasticity, Hyperactivity, Cerebral palsy, Small for gestational age, Delayed speech and language... |
ORPHA:352490 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Spasticity, Tremor, Ataxia |
OMIM:278780 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Aggressive behavior, Optic atrophy, Parkinsonism, Rigidity, Abnormal autonomic nervous system phy... |
ORPHA:329284 |
Glioblastoma |
|
Paralysis, Emotional lability, Glioblastoma multiforme |
ORPHA:360 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Palilalia, Blepharospasm, Akinesia, Optic atrophy, Choreoathetosis, Babinski sign, Dysphagia, Bra... |
OMIM:234200 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Delayed speech and language developm... |
OMIM:271980 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Dysphagia, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:613435 |
Pontocerebellar Hypoplasia, Type 8 |
|
Gait ataxia, Chorea, Spasticity, Impaired social interactions, Absent speech, Hypertonia, Involun... |
OMIM:614961 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Apathy, Spastic tetrapa... |
OMIM:272750 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Delayed speech and language development, Tremor, Ataxia |
OMIM:619099 |
Bilateral Generalized Polymicrogyria |
|
Spasticity, Self-injurious behavior, Spastic tetraplegia, Eyelid myoclonus, Oculogyric crisis, Ab... |
ORPHA:208447 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
Alexander Disease Type I |
|
Spasticity, Abnormal pyramidal sign, Palatal tremor, Cachexia, Ataxia, Failure to thrive, Dysphagia |
ORPHA:363717 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Inability to walk, Rigidity, Choreoa... |
OMIM:620023 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Tetraplegia, Gliosis, Spastic tetraplegia, Hypertonia |
OMIM:608033 |
Aceruloplasminemia |
|
Chorea, Blepharospasm, Abnormality of extrapyramidal motor function, Torticollis, Dementia, Ataxi... |
OMIM:604290 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Generalized dystonia, Tip-toe gait, Inability to walk, Parkinsonism, Li... |
OMIM:617013 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Dysphagia |
OMIM:607734 |
Leukodystrophy, Hypomyelinating, 2 |
|
Cognitive impairment, Optic atrophy, Progressive spasticity, Rigidity, Decreased motor nerve cond... |
OMIM:608804 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Cognitive impairment, Decreased motor nerve conduction velocity, Ataxia, Babinski sign |
OMIM:604168 |
Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Attention deficit hyperactivity disorder, Ataxia |
OMIM:616421 |
Pontocerebellar Hypoplasia, Type 2B |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Limb hypertonia, Babinski sign, Clonus, Dysphagia,... |
OMIM:612389 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Cerebral palsy, Stereotypical hand wringing, Abnormal neuron ... |
ORPHA:163681 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Optic atrophy, Delayed speech and language development, Myoclonus, Ataxia, Babinski ... |
OMIM:616505 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Cognitive impairment, Akinesia, Parkinsonism, Rigidity, Torti... |
ORPHA:48818 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Abnormal autonomic nervous system physiology, Attention deficit hyperactivi... |
ORPHA:369873 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis |
OMIM:618328 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Tip-toe gait, Decreased motor nerve conduction velocity, Ste... |
OMIM:614436 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Dysphagia |
OMIM:618637 |
Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Gait disturbance, Emotional lability, ... |
ORPHA:542310 |
4H Leukodystrophy |
|
Dysdiadochokinesis, Optic atrophy, Progressive gait ataxia, Abnormality of extrapyramidal motor f... |
ORPHA:289494 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Abnormal pyramidal sign, Progressive gait ataxia, Delayed speech and language develop... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Abnormal pyramidal sign, Progressive gait ataxia, Delayed speech and language develop... |
ORPHA:276241 |
Developmental And Epileptic Encephalopathy 67 |
|
Gait disturbance, Recurrent hand flapping, Athetosis, Dystonia |
OMIM:618141 |
Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Optic atrophy, Apraxia,... |
ORPHA:52368 |
Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Optic atrophy, Rigidity, Ataxia, Tremor, Hypertonia |
ORPHA:33445 |
Leigh Syndrome With Cardiomyopathy |
|
Chorea, Spasticity, Basal ganglia gliosis, Optic atrophy, Involuntary movements, Ataxia, Failure ... |
ORPHA:70474 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Cryptorchidism, Low-set ears, Hypocalcemia, Micropenis,... |
OMIM:241410 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Cognitive impairment, Dysdiadochokinesis, Truncal ataxia, Myoclonus, ... |
ORPHA:101 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Stereotypical hand wringing, Small for gestational age, Delayed speech and languag... |
OMIM:614104 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Abnormal autonomic nervous system physiology, O... |
OMIM:618049 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Decreased nerve conduction velocity, Ataxia, Hypertonia |
ORPHA:1368 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Distal sensory impairment |
OMIM:618387 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Cerebrotendinous Xanthomatosis |
|
Somatic sensory dysfunction, Suicidal ideation, Optic atrophy, Abnormal auditory evoked potential... |
ORPHA:909 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
Systemic Lupus Erythematosus 17 |
|
Chorea, Anxiety |
OMIM:301080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired distal vibration sensation, Polyminimyoclonus, Impaired tandem gait, Impaired pain sensa... |
OMIM:619574 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Spasticity, Gliosis |
ORPHA:168486 |
Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Hypospadias, Abnormal pinna morphology, Cryptorchidism, Hypocal... |
OMIM:607143 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Inability to walk, Delayed speech and language development, Ataxia, Absent speech, Failure to thr... |
OMIM:619556 |
Oculoskeletodental Syndrome |
|
Cryptorchidism, Hypercalcemia, Low posterior hairline, Hypocalcemia, Hearing impairment, Low ante... |
OMIM:618440 |
Spinocerebellar Ataxia 10 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Abnormality of extrapyramidal motor fun... |
OMIM:603516 |
Chronic Hiccup |
|
Weight loss, Depression, Abnormal eating behavior |
ORPHA:396 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Spasticity, Dystonia |
OMIM:613970 |
Charcot-Marie-Tooth Disease Type 4A |
|
Poor fine motor coordination, Impaired distal vibration sensation, Motor conduction block, Impair... |
ORPHA:99948 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Delayed speech and language development, Babinski sign, Spastic paraplegia, Failure to thrive, Tr... |
ORPHA:477673 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Chorea, Inability to walk, Stereotypical hand wringing, Delayed speech and language development, ... |
OMIM:617804 |
Amyotrophic Lateral Sclerosis 8 |
|
Abnormal pyramidal sign, Cognitive impairment, Postural tremor, Loss of ambulation, Amyotrophic l... |
OMIM:608627 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Delayed speech and l... |
OMIM:614831 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Spasticity, Abnormal pyramidal sign, Babinski sign, Abnormal lower motor neuron morphology, Amyot... |
OMIM:602099 |
Ring Chromosome 10 Syndrome |
|
Abnormal antihelix morphology, Aganglionic megacolon, Large earlobe, Low-set ears, Hypocalcemia |
ORPHA:1438 |
X-Linked Intellectual Disability, Hedera Type |
|
Echolalia, Inability to walk, Apraxia, Delayed speech and language development, Gait disturbance,... |
ORPHA:93952 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Cognitive impairment, Rigidity, Limb dystonia, Poor motor coordination, Dementia, Ataxia,... |
ORPHA:25 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Delayed speech and language development, Polyphagia, Obesity, Self-mutilation |
OMIM:616521 |
Ritscher-Schinzel Syndrome 4 |
|
Chorea, Aggressive behavior, Absent speech, Ataxia, Impulsivity, Dysphagia, Athetosis |
OMIM:619435 |
Schaaf-Yang Syndrome |
|
Inability to walk, Delayed speech and language development, Absent speech, Impulsivity, Polyphagi... |
OMIM:615547 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Progressive spastic paraplegia, Spasticity, Delayed speech and language development, Ataxia, Wadd... |
ORPHA:464282 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Social and occupational deterioration, Impaired social interact... |
ORPHA:168782 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Depression, Dystonia, Bradykinesia |
ORPHA:306669 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cognitive impairment, Hyperactivity, Delayed sp... |
ORPHA:363400 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Cryptorchidism, Low-set ears, Micropenis |
OMIM:614732 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Choreoathetosis, Absent speech, Dysphagia, Facial palsy |
OMIM:617519 |
Familial Cervical Artery Dissection |
|
Paralysis, Paresthesia, Facial palsy |
ORPHA:36382 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Delayed speech and language development, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, Hemiballismus, Self-biting, Repetitive compulsive behavior, Choreoathetosis, Absent speec... |
ORPHA:522077 |
Carcinoma Of Esophagus |
|
Obesity, Weight loss, Dysphagia |
ORPHA:70482 |
Angelman Syndrome Due To A Point Mutation |
|
Gait imbalance, Recurrent hand flapping, Happy demeanor, Ataxia, Inappropriate laughter, Tongue t... |
ORPHA:411511 |
Dravet Syndrome |
|
Poor fine motor coordination, Bradykinesia, Cognitive impairment, Parkinsonism, Rigidity, Progres... |
ORPHA:33069 |
Optic Atrophy 11 |
|
Gait apraxia, Hyperactivity, Optic atrophy, Absent speech, Ataxia, Optic nerve hypoplasia, Facial... |
OMIM:617302 |
Spastic Paraplegia 86, Autosomal Recessive |
|
Inability to walk, Choreoathetosis, Ataxia, Babinski sign, Absent speech, Spastic paraplegia |
OMIM:619735 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Cognitive impairment, Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric... |
ORPHA:352649 |
Man1B1-Cdg |
|
Polyphagia, Broad-based gait, Resting tremor, Truncal obesity |
ORPHA:397941 |
Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Irritability, Dystonia |
OMIM:612126 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus, Bruxism |
OMIM:606840 |
Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... |
ORPHA:391411 |
Alexander Disease |
|
Chorea, Spasticity, Abnormal pyramidal sign, Tetraplegia, Self-injurious behavior, Abnormal auton... |
ORPHA:58 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Spastic tetraplegia, Absent brainstem auditory responses, Absent speech, Head titubation, Gliosis... |
ORPHA:3240 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Loss of ambulation, Tremor, Irritability, Dystonia |
OMIM:615010 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Spinocerebellar Ataxia 21 |
|
Gait ataxia, Aggressive behavior, Cognitive impairment, Postural tremor, Parkinsonism, Akinesia, ... |
OMIM:607454 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Social and occupational deterioration, Abnormal pyramidal... |
ORPHA:240071 |
48,Xxyy Syndrome |
|
Ataxia, Abnormal repetitive mannerisms, Tremor, Attention deficit hyperactivity disorder, Depress... |
ORPHA:10 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, T... |
OMIM:128100 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spasticity, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Failure to thrive, Dystonia |
OMIM:618238 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Oculomotor apraxia, Choreoathetosis, Ataxia, Generalized dystonia, Dystonia,... |
OMIM:245348 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Optic atrophy, Rigidity, Delayed speech and language development, Oculomotor apraxia,... |
OMIM:612438 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Anxiety, Weight loss, Dyse... |
ORPHA:221098 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Spasticity, Shuffling gait, Dysdiadochokinesis, Resting tremor, Parkinsonism, Rigidi... |
ORPHA:247234 |
Episodic Ataxia Type 4 |
|
Abnormal head movements, Incoordination, Ataxia, Frequent falls |
ORPHA:79136 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Optic atrophy, Ataxia, Babinski sign, Dysmetria, Tremor, Loss of amb... |
OMIM:607694 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypogonadism |
OMIM:612462 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Delayed speech and language development, Tremor, Ataxia |
OMIM:617831 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Paroxysmal dystonia, Suicidal ideation, Involuntary movements, Abnormal rep... |
ORPHA:98784 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Dysphagia |
OMIM:201550 |
Proximal 16P11.2 Microduplication Syndrome |
|
Anxiety, Delayed speech and language development, Bipolar affective disorder, Compulsive behavior... |
ORPHA:370079 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Myoclonus, Ataxia, Failure to thrive, Tremor |
OMIM:616494 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Truncal ataxia, Rigidity... |
OMIM:618877 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Cognitive impairment, Delayed speech and language development, Oculomoto... |
ORPHA:1170 |
Developmental And Epileptic Encephalopathy 29 |
|
Chorea, Spasticity, Blepharospasm, Limb dystonia, Failure to thrive |
OMIM:616339 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Spasticity, Shuffling gait, Optic atrophy, Parkinsonism, Rigidity, Hand tremor, Gait disturbance,... |
ORPHA:289560 |
Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Shuffling gait, Parkinsonism, Rigidity... |
ORPHA:171695 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Impaired social interactions, Delayed speech and language development, Moderate receptive languag... |
ORPHA:261197 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Tetraplegia, Choreoathetosis, Failure to thrive, Clonus, Dystonia |
OMIM:616034 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Leigh Syndrome |
|
Chorea, Spasticity, Dysphagia, Spastic diplegia, Optic atrophy, Abnormality of extrapyramidal mot... |
ORPHA:506 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Inability to walk, Optic atrophy, Delayed speech and language development, Upper limb spasticity,... |
OMIM:617193 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Dementia, Facial diplegia, Tremor, Decreased nerve conduction velocity, Frequent fa... |
ORPHA:329478 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Tip-toe gait, Babinski sign, Waddling gait, Steppage gait, Lower limb spasticity, Broad-based gai... |
OMIM:615290 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Myoclonus, Paralysis, Ataxia, Dementia, Failure to thrive, Tetraparesis, Gliosis, Hypertonia, Ast... |
OMIM:203700 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... |
OMIM:608643 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cognitive impairment, Limb hypertonia, Cerebral palsy, Small for gestational age, Delayed speech ... |
ORPHA:70594 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormal pyramidal sign, Cognitive impairment, Abnormality of somatosensory evoked po... |
ORPHA:280219 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonus, Tremor, Absent speech |
OMIM:616366 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Impaired social interactions, Recurrent hand flappi... |
OMIM:156200 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Paroxysmal bursts of laughter, Spastic diplegia, Optic atrophy, Delayed speech and ... |
ORPHA:391428 |
Schimke X-Linked Mental Retardation Syndrome |
|
Spasticity, Choreoathetosis |
OMIM:312840 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Abnormal auditory evoked potentials, Sensorineural hearing impa... |
ORPHA:320401 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Classic Galactosemia |
|
Gait imbalance, Anxiety, Deficit in grammar, Postural tremor, Delayed speech and language develop... |
ORPHA:79239 |
Continuous Spikes And Waves During Sleep |
|
Aggressive behavior, Cognitive impairment, Motor deterioration, Clumsiness, Speech articulation d... |
ORPHA:725 |
Charcot-Marie-Tooth Disease Type 1F |
|
Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Paresthesia, Inability to walk, A... |
ORPHA:101085 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Intermediate Osteopetrosis |
|
Optic atrophy from cranial nerve compression, Hypocalcemia, Cranial nerve compression |
ORPHA:210110 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Echolalia, Delayed speech and language development, Recurrent... |
OMIM:615516 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Nail dystrophy |
OMIM:175500 |
Idiopathic Achalasia |
|
Weight loss, Dysphagia |
ORPHA:930 |
Spinocerebellar Ataxia Type 3 |
|
Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, Vocal cord par... |
ORPHA:98757 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Generalized dystonia, Weight loss, Attention deficit hyperactivity disorder, Frequent... |
ORPHA:216866 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Truncal ataxia, Difficulty walking, Hyperkinetic movements |
ORPHA:369847 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Albinism, Aganglionic megacolon, Abnormal auditory evoked potenti... |
OMIM:600501 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Gait ataxia, Decreased motor nerve conduction velocity, Loss of ambulation, Difficulty walking, S... |
OMIM:614895 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia, Hearing impairment, Optic atrophy, Facial palsy |
ORPHA:53 |
Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy, Dysphagia |
ORPHA:230800 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Inappropriate crying, Recurrent hand flapping, Abnormal autonomic nervous system physiology, Gait... |
OMIM:617903 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Myoclonus, Paralysis, Depression, Anxiety |
ORPHA:83601 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Aggressive behavior, Gliosis, Parkinsonism |
OMIM:606688 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Myoclonus, Failure to thrive, Tetraparesis, Mental deterioration, Opisthotonus, Dystonia |
OMIM:616672 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Spasticity, Inability to walk, Parkinsonism, Apraxia, Delayed speech and language development, Ch... |
OMIM:619653 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormal autonomic nervous system physiology, Upper motor ne... |
ORPHA:99027 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Optic atrophy, Choreoathetosis, Absent speech, Tremor, Dysphagia, ... |
OMIM:617664 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Truncal ataxia, Absent speech, Difficulty walking, Waddling gait |
ORPHA:369840 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Gait ataxia, Inertia, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Gait ... |
ORPHA:93256 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Paresthesia, Limb ataxia, Impaired pain sensation, Tremor, Frequent fall... |
OMIM:616719 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia, Weight loss |
OMIM:275000 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Myoclonus, Inability to walk, Reduced eye contact, Abnormal repetitive mannerisms |
ORPHA:411986 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Emotional lability, Failure to thrive, Tremor, Polyphagia, Hyperkinetic movements,... |
ORPHA:525731 |
Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Leptin Receptor Deficiency |
|
Aggressive behavior, Emotional lability, Polyphagia, Abnormal eating behavior, Obesity |
OMIM:614963 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Myoclonus, Choreoathetosis, Paraparesis, Ataxia, Spastic para... |
ORPHA:726 |
Pettigrew Syndrome |
|
Gait ataxia, Spasticity, Choreoathetosis, Self-injurious behavior |
OMIM:304340 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:608030 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Lingual dystonia, Inability to walk, Small for gestational age, Oculomotor apraxia, Myocl... |
ORPHA:404454 |
Trisomy X |
|
Cognitive impairment, Tremor, Attention deficit hyperactivity disorder, Depression, Anxiety |
ORPHA:3375 |
Bardet-Biedl Syndrome 22 |
|
Delayed speech and language development, Obesity, Polyphagia, Large for gestational age |
OMIM:617119 |
Multiple System Atrophy |
|
Gait ataxia, Orthostatic hypotension due to autonomic dysfunction, Abnormal pyramidal sign, Postu... |
ORPHA:102 |
Poliomyelitis |
|
Paresthesia, Abnormal motor nerve conduction velocity, Paraparesis, Paralysis, Agitation, Low sel... |
ORPHA:2912 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Abnormality of the uterus, Vaginal atresia, Hypertrichosis, H... |
ORPHA:1655 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Truncal ataxia, Delayed speech and language development, Dysmetria, Tremor |
OMIM:610185 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior, Decreased body weight, Delayed speech and language developmen... |
OMIM:618342 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Cognitive impairment, Myoclonus, Ataxia, Dementia, Tremor, Enhancement of the C-re... |
OMIM:607876 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Absent speech, Babinski sign... |
OMIM:618598 |
Spinocerebellar Ataxia 36 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Incoordination, Ataxia, Babinski sign, Hypertonia, Dysp... |
OMIM:614153 |
Congenital Disorder Of Deglycosylation 1 |
|
Chorea, Decreased body weight, Impaired oropharyngeal swallow response, Myoclonus, Decreased sens... |
OMIM:615273 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Dystonia, Absent speech, Decreased nerve conduction velocity |
OMIM:614932 |
Parkinson Disease 14, Autosomal Recessive |
|
Frontotemporal dementia, Eyelid myoclonus, Axial dystonia, Bradykinesia, Spasticity, Aggressive b... |
OMIM:612953 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypoplasia of penis, External ear malformation, Cryptorchidism, Low-set, poste... |
ORPHA:2323 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Punding, Abnormal social behavior, Low self esteem, Attention deficit hyperactivi... |
ORPHA:64280 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Hemiparesis, Ataxia, Tremor, Depression, Intention tremor |
OMIM:614307 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Spasticity, Impaired distal vibration sensation, Pseudobulbar paralysis, Gait disturbance, Absent... |
OMIM:616586 |
Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Abnormal pyramidal sign, Paresthesia, Abnormal aggressive, impulsive o... |
ORPHA:97349 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Shyness, Delayed speech and language development, Slurred speech, Polyphagia... |
OMIM:616831 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Spasticity, Anxiety, Delayed speech and language development, Repetitive compulsive behavior, Fai... |
ORPHA:391372 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Ankle clonus, Truncal ataxia, Progressive gait ataxia, Limb ataxia, Dysmetria, Slurred speech, Pr... |
ORPHA:284289 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ankle clonus, Clumsiness, Ataxia, Knee clonus, Cranial nerve motor loss, Vocal cord paralysis, Dy... |
OMIM:211530 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Weight loss, Cachexia, Ataxia |
OMIM:613662 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Gait ataxia, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Familial Acute Necrotizing Encephalopathy |
|
Spasticity, Spastic tetraplegia, Rigidity, Gait disturbance, Gliosis, Hypertonia |
ORPHA:88619 |
Tonne-Kalscheuer Syndrome |
|
Spasticity, Aggressive behavior, Self-injurious behavior, Shyness, Delayed speech and language de... |
OMIM:300978 |
Fatal Familial Insomnia |
|
Weight loss, Abnormal autonomic nervous system physiology, Myoclonus, Ataxia, Dysphagia |
OMIM:600072 |
D-Glyceric Aciduria |
|
Chorea, Spasticity, Myoclonus |
ORPHA:941 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis |
OMIM:300215 |
X-Linked Agammaglobulinemia |
|
Alopecia, Hypocalcemia, Sensorineural hearing impairment |
ORPHA:47 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Hemiplegia, Ataxia, Absent speech, Agitation, Hypertonia, Generalized dystonia |
OMIM:272300 |
Developmental And Epileptic Encephalopathy 1 |
|
Erratic myoclonus, Abnormal pyramidal sign, Choreoathetosis, Spastic tetraparesis, Hypertonia, Dy... |
OMIM:308350 |
Oculopharyngodistal Myopathy |
|
Weight loss, Impaired oropharyngeal swallow response, Paraplegia, Vocal cord paresis, Oral-pharyn... |
ORPHA:98897 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Aggressive behavior, Self-injurious behavior, Recurrent hand flapping, Gait disturbance, Absent s... |
OMIM:300986 |
Dystonia 9 |
|
Abnormal pyramidal sign, Cognitive impairment, Paresthesia, Choreoathetosis, Episodic ataxia, Spa... |
OMIM:601042 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Saccharopinuria |
|
Gait ataxia, Cognitive impairment, Spastic diplegia, Tremor, Mental deterioration, Distal sensory... |
ORPHA:3124 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Gait ataxia, Impaired vibration sensation in the lower limbs, Postural tremor, Parkinsonism, Rigi... |
ORPHA:98808 |
Non-Functioning Paraganglioma |
|
Cranial nerve compression, Weight loss, Tremor, Vocal cord paralysis, Panic attack |
ORPHA:94080 |
Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles, Depression, Anxiety, Dystonia, Personality disorder |
OMIM:300842 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity, Polyphagia |
ORPHA:71529 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Optic atrophy, Delayed spee... |
OMIM:614381 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Polyphagia |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Polyphagia |
ORPHA:71526 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Gait ataxia, Aggressive behavior, Absent speech, Compulsive behaviors, Abnormal repetitive manner... |
ORPHA:476126 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia, Myoclonus |
OMIM:612016 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Spasticity, Limb hypertonia, Choreoathetosis, Ataxia, Absent speech, Involuntary movements, Dystonia |
OMIM:615905 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Micropenis, Cryptorchidism, Low-set ears, Hypocalcemia, Hypertrichosis |
OMIM:235255 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Delayed speech and language development, Myoclonus, Impaired tactile sensation, Atax... |
OMIM:619092 |
Developmental And Epileptic Encephalopathy 74 |
|
Choreoathetosis, Absent speech |
OMIM:618396 |
Allan-Herndon-Dudley Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Spastic tetraplegia, Limb hypertonia, Small fo... |
ORPHA:59 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Tremor, Lethargy, Dystonia |
OMIM:312170 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Cognitive impairment, Decreased body weight, Inability to walk, Dysphagia, Astrocytosis, Facial p... |
ORPHA:258 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy... |
ORPHA:96 |
Developmental And Epileptic Encephalopathy 46 |
|
Limb hypertonia, Absent speech, Failure to thrive, Tremor, Dysphagia |
OMIM:617162 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Chorea, Failure to thrive in infancy, Hemiparesis, Delayed speech and language development, Dystonia |
OMIM:618829 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Paralysis, Respiratory paralysis |
ORPHA:681 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Hyponatremia, Low-set ears, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, H... |
OMIM:618183 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Abnormal emotion/affect behavior, Abnormal pyramidal sign, Impaired social interac... |
ORPHA:1942 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Spasticity, Optic atrophy, Delayed speech and language development, Oculomotor aprax... |
ORPHA:529665 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
Crigler-Najjar Syndrome Type 1 |
|
Delayed speech and language development, Tremor, Memory impairment |
ORPHA:79234 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Abnormal vagina morphology |
ORPHA:2123 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Clumsiness, Delayed speech and language developmen... |
OMIM:619911 |
Developmental And Epileptic Encephalopathy 84 |
|
Chorea, Spasticity, Babinski sign, Opisthotonus, Dystonia |
OMIM:618792 |
Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:98293 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Limb ataxia, Ataxia, Intent... |
OMIM:133190 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy |
OMIM:125250 |
4Q21 Microdeletion Syndrome |
|
Delayed speech and language development, Tremor, Self-injurious behavior, Abnormal repetitive man... |
ORPHA:238750 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Spasticity, Pica, Limb hypertonia, Delayed speech and language development, Recurrent hand flappi... |
OMIM:618480 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Vocal cord paresis, Impaired tactile sensation, Impaired pain sensation, Decreased nerve conducti... |
ORPHA:101097 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Optic atrophy, Delayed speech and language developm... |
ORPHA:313892 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Hyperactivity, Aggressive behavior, Delayed speech and language development, Emotion... |
OMIM:300354 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Chorea, Tip-toe gait, Inability to walk, Brachial plexus neuropathy, Dysphagia |
ORPHA:268 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Spasticity, Gliosis, Optic atrophy |
OMIM:616239 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Colchicine Poisoning |
|
Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalc... |
ORPHA:31824 |
X-Linked Intellectual Disability, Schimke Type |
|
Spasticity, Choreoathetosis, Failure to thrive in infancy, Absent speech |
ORPHA:85285 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Impaired social interactions, Delaye... |
ORPHA:96121 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Agitation, Polyphagia, Lethargy |
ORPHA:324575 |
Developmental And Epileptic Encephalopathy 72 |
|
Hyperkinetic movements, Inability to walk, Dysphagia |
OMIM:618374 |
Tick-Borne Encephalitis |
|
Somatic sensory dysfunction, Abnormal glossopharyngeal nerve morphology, Facial palsy, Abnormal a... |
ORPHA:297 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Abnormal pyramidal sign, Gait imbalance, Postural tremor, Oculomotor... |
ORPHA:64753 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia |
OMIM:618406 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Generalized hirsutism |
ORPHA:1563 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Parkinsonism, Apraxia, Oculomotor apraxia, Myoclonus, Abnormal social behavior, Semantic dementia... |
ORPHA:1020 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Aggressive behavior, Spastic tetraplegia, Limb hypertonia, Optic atrophy, Absent speech, Ataxia, ... |
OMIM:617710 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Dysphagia, Tremor, Fasciculations |
OMIM:313200 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Refractory Celiac Disease |
|
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:398063 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Inability to walk, Truncal ataxia, Ataxia, Waddling gait, Tremor, Difficulty walking, Hyp... |
OMIM:615356 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Rett Syndrome |
|
Gait ataxia, Spasticity, Gait apraxia, Stereotypical hand wringing, Motor deterioration, Truncal ... |
OMIM:312750 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spasticity, Spastic ataxia, Spastic diplegia, Impaired social interactions, Spastic tetraplegia, ... |
ORPHA:300570 |
Japanese Encephalitis |
|
Opisthotonus, Respiratory paralysis, Facial palsy, Abnormality of extrapyramidal motor function, ... |
ORPHA:79139 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal pyramidal sign, Abnormal head movements, Truncal ataxia, Oculomotor apraxia, Progressive... |
ORPHA:247815 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Spasticity, Postural tremor, Truncal ataxia, Myoclonus, Absent speech, Babinski sign, Ataxia, Gli... |
OMIM:301072 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Delayed speech and language development, Oculomotor ap... |
OMIM:618060 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
Fragile X Syndrome |
|
Recurrent hand flapping, Abnormal head movements, Hyperactivity, Self-biting |
OMIM:300624 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Hearing impairment |
OMIM:601455 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Delayed speech and language development, Choreoathetosis, Ataxia, Frequent falls, Dystonia |
OMIM:618416 |
Classic Phenylketonuria |
|
Self-injurious behavior, Motor deterioration, Hemiplegia, Paraplegia, Tremor, Attention deficit h... |
ORPHA:79254 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Polyphagia |
OMIM:614962 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Spasticity, Involuntary movements, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Cognitive impairment, Akinesia, Rigidity, Abnormality of extrapyramidal motor functi... |
ORPHA:98773 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Failure to thrive, Progressive neurologic deterioration, Gliosis |
OMIM:214150 |
Isolated Succinate-Coq Reductase Deficiency |
|
Spasticity, Weight loss, Ataxia, Babinski sign, Spastic tetraparesis, Spastic paraparesis, Freque... |
ORPHA:3208 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Shyness, Impaired social interaction... |
ORPHA:449291 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Polyphagia, Large for gestational age, Agitation |
ORPHA:276556 |
Temple Syndrome |
|
Small for gestational age, Delayed speech and language development, Obesity, Polyphagia |
ORPHA:254516 |
Cimdag Syndrome |
|
Chorea, Spasticity, Delayed speech and language development, Ataxia, Absent speech, Dystonia |
OMIM:619273 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Agitation, Tremor, Progressive neurologic deterioration, Lethargy, Increased body weight |
ORPHA:276608 |
Alzheimer Disease 3 |
|
Memory impairment, Apraxia, Abnormality of extrapyramidal motor function, Myoclonus, Gait disturb... |
OMIM:607822 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Spasticity, Optic atrophy, Progressive spasticity, Cataplexy, Abnormal repetitive mannerisms, Ata... |
ORPHA:496641 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Delayed speech and language development, Recurrent hand flapping, Torticolli... |
OMIM:619680 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Gait disturbance, Babinski sign, Spastic paraplegia, Tremor, Abnormal astrocyte mor... |
ORPHA:83629 |
Cockayne Syndrome Type 3 |
|
Abnormality of peripheral nerve conduction, Cognitive impairment, Progressive neurologic deterior... |
ORPHA:90324 |
Parkinson Disease 20, Early-Onset |
|
Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Involuntary movements, Short stepped shuf... |
OMIM:615530 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Limb dystonia, Choreoathetosis, Absent speech, Failure to thrive, Decreased nerve conduction velo... |
ORPHA:319514 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Paralysis, Respiratory paralysis |
ORPHA:449285 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Micropenis |
OMIM:602361 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Facial paralysis, Hypocalcemia, Hearing impairment, Facial palsy |
OMIM:259700 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Polyphagia, Large for gestational age, Agitation |
ORPHA:276575 |
Leukodystrophy, Hypomyelinating, 4 |
|
Progressive spasticity, Choreoathetosis, Babinski sign, Spastic paraplegia, Head titubation |
OMIM:612233 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia |
OMIM:617106 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Dysphagia, Progressive cerebellar at... |
OMIM:608768 |
Rheumatic Fever |
|
Chorea, Gait disturbance, Hemiballismus, Fasciculations |
ORPHA:3099 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Polyphagia, Large for gestational age, Agitation |
ORPHA:276580 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Frontotemporal dementia, Fasciculations, Cranial nerve compression, Abnormal motor neuron morphol... |
ORPHA:52430 |
Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Dysphagia |
OMIM:619473 |
Jeavons Syndrome |
|
Limb myoclonus, Abnormal head movements, Anxiety |
ORPHA:139431 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Spasticity, Choreoathetosis, Self-mutilation |
OMIM:308950 |
Foodborne Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy, Dysphagia |
ORPHA:228371 |
Autosomal Recessive Ataxia, Beauce Type |
|
Spasticity, Ankle clonus, Clumsiness, Gait disturbance, Upper motor neuron dysfunction, Ataxia, B... |
ORPHA:88644 |
Porphyria, Acute Intermittent |
|
Paresthesia, Respiratory paralysis, Paralysis, Depression, Anxiety |
OMIM:176000 |
Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Depression, Anxiety, Polydipsia |
ORPHA:178029 |
Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, Somatic sensory dysfunction, Cognitive impairment, Paresthesia, Parkinsonism, Hemipl... |
ORPHA:217260 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Progressive sensorineural hearing impairment, Vaginal atresia, Aplasia of the uterus, Hypocalcemi... |
ORPHA:2237 |
Ataxia-Telangiectasia |
|
Spasticity, Cognitive impairment, Gait disturbance, Ataxia, Failure to thrive, Tremor |
ORPHA:100 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Limb dystonia, Lethargy, Gliosis, Basal ganglia gliosis |
OMIM:604377 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Sensorineural hearing impairment, Hypercalcemia |
ORPHA:2668 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:264700 |
Neutral Lipid Storage Disease With Myopathy |
|
Difficulty walking, Fasciculations |
OMIM:610717 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Aggressive behavior, Self-biting, Impaired social interactions, Delayed speech and... |
OMIM:300912 |
Pelizaeus-Merzbacher Disease |
|
Spasticity, Optic atrophy, Cachexia, Choreoathetosis, Ataxia, Dystonia, Failure to thrive in infancy |
ORPHA:702 |
Caribbean Parkinsonism |
|
Frontal lobe dementia, Parkinsonism, Rigidity, Myoclonus, Apraxia, Progressive gait ataxia, Abnor... |
ORPHA:97355 |
Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Gait disturbance, Ataxia, T... |
ORPHA:765 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Polyphagia |
ORPHA:177910 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Myopathy, Mitochondrial, And Ataxia |
|
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Delayed speech and language development, L... |
OMIM:617675 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Cognitive impairment, Delayed speech and language development, Compulsive behaviors, Failure to t... |
ORPHA:398069 |
Kleefstra Syndrome Due To A Point Mutation |
|
Self-injurious behavior, Delayed speech and language development, Moderate receptive language del... |
ORPHA:261652 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Decreased nerve conduction velocity, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Wagro Syndrome |
|
Aggressive behavior, Echolalia, Impaired social interactions, Emotional lability, Agitation, Poly... |
OMIM:612469 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torticollis, Torsion dystonia, Tremor, Dysphagia |
OMIM:224500 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Spasticity, Self-injurious behavior, Limb hypertonia, Inability to walk, Severe receptive languag... |
ORPHA:457351 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Craniofacial... |
ORPHA:420492 |
Peroxisome Biogenesis Disorder 5B |
|
Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:614867 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hemiparesis, Hypoesthesia, Tremor, Hypertonia, Impaired vibratory sensation, O... |
OMIM:619737 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Myoclonus, Basal ganglia gliosis, Gliosis |
OMIM:614946 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Spinocerebellar Ataxia Type 42 |
|
Gait ataxia, Impaired vibration sensation at ankles, Resting tremor, Spastic gait, Upper limb pos... |
ORPHA:458803 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia |
OMIM:614203 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Irritability, Polydipsia |
ORPHA:30925 |
Glutathionuria |
|
Tremor, Action tremor, Dysdiadochokinesis |
OMIM:231950 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Echolalia, Self-biting, Severe receptive language delay, Abno... |
ORPHA:3306 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Aggressive behavior, Emotional lability, Absent speech, Broad-based gait, Polyphagia, Hypertonia,... |
ORPHA:251028 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bruxism, Inability to walk, Absent speech, Involuntary movements |
OMIM:615716 |
Mannosidosis, Alpha B, Lysosomal |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Limb ataxia, Babinski sign, Gliosis |
OMIM:248500 |
Dystonia 26, Myoclonic |
|
Blepharospasm, Torticollis, Myoclonus, Depression, Anxiety, Laryngeal dystonia, Dystonia |
OMIM:616398 |
Mohr-Tranebjaerg Syndrome |
|
Spasticity, Tremor, Dysphagia, Mental deterioration, Dystonia |
OMIM:304700 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Gait disturbance, Progressive neurologic deterioration, Hypertonia |
ORPHA:1192 |
Oculorenocerebellar Syndrome |
|
Choreoathetosis, Spastic diplegia |
OMIM:257970 |
Pontocerebellar Hypoplasia Type 2 |
|
Spasticity, Paroxysmal dystonia, Impaired oropharyngeal swallow response, Choreoathetosis, Babins... |
ORPHA:2524 |
Rhabdoid Tumor |
|
Weight loss, Cerebral palsy, Irritability, Hemiplegia |
ORPHA:69077 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Limb hypertonia, Dysphagia |
OMIM:618247 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Smith-Magenis Syndrome |
|
Self-injurious behavior, Delayed speech and language development, Gait disturbance, Abnormal repe... |
ORPHA:819 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Primary Progressive Freezing Gait |
|
Gait imbalance, Shuffling gait, Postural tremor, Rigidity, Dementia, Babinski sign, Frequent fall... |
ORPHA:75567 |
Bardet-Biedl Syndrome 9 |
|
Delayed speech and language development, Polyphagia, Truncal obesity, Obesity, Polydipsia |
OMIM:615986 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gait ataxia, Impaired distal vibration sensation, Weight loss, Progressive gait ataxia, Myoclonus... |
OMIM:607459 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Self-injurious behavior, Small for gestational age, Bulimia, Failure to thrive, Impaired temperat... |
ORPHA:98793 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Delayed speech and language developme... |
OMIM:618056 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Spasticity, Ankle clonus, Spastic diplegia, Optic... |
ORPHA:206436 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Chorea, Spasticity, Optic atrophy, Ataxia, Failure to thrive, Hypertonia, Dysphagia,... |
ORPHA:255210 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Self-injurious behavior, Small for gestational age, Bulimia, Failure to thrive, Impaired temperat... |
ORPHA:177904 |
Chromosome 18Q Deletion Syndrome |
|
Chorea, Optic atrophy, Poor coordination, Tremor, Failure to thrive in infancy, Broad-based gait |
OMIM:601808 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Spasticity, Optic atrophy, Myoclonus, Vocal cord paralysis, Dysphagia, Dystonia, Increased cup-to... |
ORPHA:500144 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Self-injurious behavior, Small for gestational age, Bulimia, Failure to thrive, Impaired temperat... |
ORPHA:177901 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Tetraparesis, Absent speech |
ORPHA:85277 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94089 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Loss of ability to walk in first decade, Decreased body weight, Truncal ataxia, Happy demeanor, A... |
OMIM:300243 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Spastic tetraplegia, Myoclonic spasms, Gliosis, Hypertonia, Opisthotonus, Irritability |
OMIM:252160 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Choreoathetosis, Failure to thrive, Lethargy, Dystonia |
ORPHA:79312 |
Chromosome 22Q13 Duplication Syndrome |
|
Bipolar affective disorder, Emotional lability, Impulsivity, Attention deficit hyperactivity diso... |
OMIM:615538 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Inability to walk, Fasciculations |
ORPHA:206546 |
Cystinosis |
|
Abnormal pyramidal sign, Gait disturbance, Abnormal repetitive mannerisms, Failure to thrive, Pol... |
ORPHA:213 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Dementia, Decreased nerve conduction velocity, Difficulty walking, Amyotrophic lateral sclerosis,... |
ORPHA:600 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:29822 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Myoclonus, Pain insensitivity, Polyphagia, Obesity, Progressive psychomotor deterioration |
ORPHA:251004 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia, Long eyelashes, Optic atrophy |
OMIM:618476 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aggressive behavior, Stereotypical hand wringing, Small for gestational age, Gait disturbance, Ab... |
ORPHA:268261 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Hyperphosphatemia, Optic atrophy, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia |
ORPHA:90362 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Optic disc pallor, Long eyelashes, Low posterior hairline |
OMIM:617523 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Frequent falls, Ste... |
ORPHA:521411 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Inability to walk, Appendicular spasticity, Optic atrophy, Choreoathetosis, Failure ... |
OMIM:617988 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Gait disturbance, Failure to thrive, Hypertonia, Hyperkinetic movements, Lethargy |
OMIM:236270 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss, Parkinsonism |
OMIM:605543 |
Pontocerebellar Hypoplasia, Type 1D |
|
Spasticity, Fasciculations, Failure to thrive, Tongue fasciculations, Oral-pharyngeal dysphagia |
OMIM:618065 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Dysdiadochokinesis, Delayed speech and language development, Dysmetr... |
ORPHA:502423 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Pseudohypoparathyroidism Type 1A |
|
Paresthesia, Anxiety, Myoclonic spasms, Choreoathetosis, Obesity, Polyphagia, Laryngeal dystonia,... |
ORPHA:79443 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Dysphagia, Myoclonic spasms, Delayed speech and language development... |
ORPHA:447997 |
Episodic Ataxia Type 1 |
|
Tip-toe gait, Clumsiness, Delayed speech and language development, Poor coordination, Choreoathet... |
ORPHA:37612 |
Distal Xq28 Microduplication Syndrome |
|
Aggressive behavior, Tip-toe gait, Self-biting, Delayed speech and language development, Impulsiv... |
ORPHA:293939 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Delayed speech and language development, Absent speech, Tremor, Attent... |
ORPHA:506358 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Spasticity, Hemiparesis, Abnormal autonomic... |
OMIM:105210 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Inability to walk, Decreased motor nerve conduction velocity, Absent speech, Facial diplegia, Dec... |
OMIM:218000 |
Microtriplication 11Q24.1 |
|
Delayed speech and language development, Hyperkinetic movements, Obesity, Bruxism, Speech apraxia |
ORPHA:289522 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Abnormal autonomic nervous system physiology, Hyperkalemia, Ele... |
ORPHA:94093 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Truncal ataxia, Recurrent hand flapping, Limb ataxia, Broad-based gait |
OMIM:617101 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Aggressive behavior, Delayed speech and language development, Tics, Recurrent hand flapping, Abse... |
OMIM:617788 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Abnormal repetitive ... |
ORPHA:391307 |
Alazami Syndrome |
|
Anxiety, Stereotypical hand wringing, Abnormal repetitive mannerisms, Abnormal eating behavior, S... |
ORPHA:319671 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:619405 |
Lynch Syndrome |
|
Abnormal pyramidal sign, Paresthesia, Anxiety, Weight loss, Hemiplegia/hemiparesis, Attention def... |
ORPHA:144 |
Developmental And Epileptic Encephalopathy 4 |
|
Spastic tetraplegia, Choreoathetosis, Absent speech, Spastic paraplegia, Tremor |
OMIM:612164 |
Hereditary Hyperekplexia |
|
Spasticity, Rigidity, Myoclonus, Gait disturbance, Ataxia, Hypertonia, Fasciculations |
ORPHA:3197 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia |
OMIM:222100 |
Episodic Ataxia Type 7 |
|
Hyperkinetic movements, Cognitive impairment, Episodic ataxia |
ORPHA:209970 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Obesity, Polyphagia, Emotional lability |
ORPHA:179494 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypergonadotropic hypogonadism, Hypocalcemic ... |
ORPHA:79444 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Metachromatic Leukodystrophy |
|
Tip-toe gait, Progressive spasticity, Gait disturbance, Incoordination, Emotional lability, Ataxi... |
ORPHA:512 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Delayed speech and language development, Failure to thrive, Impaired temperature sensation, Skin-... |
ORPHA:398079 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemia, Hypocalcemic seizures |
ORPHA:289157 |
Cebalid Syndrome |
|
Delayed speech and language development, Polyphagia |
OMIM:618774 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Spasticity, Optic atrophy, Repetitive compulsive behavior, Absent speech, Compulsive behaviors, O... |
ORPHA:401777 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Delayed speech and language development, Absent speech, Abnormal repetitive ... |
ORPHA:457279 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Echolalia, Impaired social interactions, Happy demeanor, Obesity, Absent speech, F... |
OMIM:615873 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Tremor, Vocal cord paralysis... |
ORPHA:276621 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Resting tremor, Parkinsonism, Rigidity, Limb dystonia, Akine... |
OMIM:616840 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Spasticity, Cognitive impairment, Limb hypertonia, Inability to walk... |
ORPHA:191 |
Waisman Syndrome |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to d... |
OMIM:311510 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Abnormal pyramidal sign, Akinesia, Optic atrophy, Truncal ataxia, Choreoathetosis, Failure to thr... |
OMIM:618249 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis, Dysphagia |
OMIM:150260 |
Arnold-Chiari Malformation Type I |
|
Gait ataxia, Somatic sensory dysfunction, Abnormality of the eleventh cranial nerve, Cranial nerv... |
ORPHA:268882 |
Tetanus |
|
Rigidity, Abnormal autonomic nervous system physiology, Tremor, Autonomic bladder dysfunction, Hy... |
ORPHA:3299 |
Kohlschutter-Tonz Syndrome-Like |
|
Spasticity, Decreased body weight, Inability to walk, Stereotypical hand wringing, Delayed speech... |
OMIM:619229 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Aggressive behavior, Hair-pulling, Self-injurious behavior, Absent speech, Ataxia, Bruxism |
OMIM:616393 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Frontotemporal dementia, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favo... |
ORPHA:199351 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Tremor, Decreased body weight, Dementia |
OMIM:278760 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight, Optic atrophy |
ORPHA:1672 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Paraparesis, Choreoathetosis, Ataxia, Tetraparesis, Lethargy |
ORPHA:27 |
Familial Colorectal Cancer Type X |
|
Abnormal pyramidal sign, Paresthesia, Anxiety, Weight loss, Hemiplegia/hemiparesis, Attention def... |
ORPHA:440437 |
Snijders Blok-Fisher Syndrome |
|
Delayed speech and language development, Spasticity, Choreoathetosis, Opisthotonus |
OMIM:618604 |
Brody Disease |
|
Somatic sensory dysfunction, Fasciculations |
OMIM:601003 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Paresthesia, Cerebral palsy, Hypertonia, Fasciculations |
ORPHA:682 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Optic atrophy, Decreased motor nerve conduction velocity, Positive Romberg sign, Vocal cord pares... |
OMIM:601152 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Substantia nigra gliosis, Parkinsonism with favorable res... |
OMIM:607060 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Ataxia, Decreased nerve conduction velocity |
ORPHA:1933 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss, Dysphagia |
ORPHA:2198 |
Adnp Syndrome |
|
Aggressive behavior, Anxiety, Impaired social interactions, Delayed speech and language developme... |
ORPHA:404448 |
Thyrotoxic Periodic Paralysis |
|
Abnormality of peripheral nerve conduction, Respiratory paralysis, Weight loss, Paralysis, Tremor... |
ORPHA:79102 |
Birk-Landau-Perez Syndrome |
|
Limb hypertonia, Optic atrophy, Delayed speech and language development, Oculomotor apraxia, Chor... |
OMIM:617595 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Aggressive behavior, Inability to walk, Small for gestational age, Delayed speech and language de... |
OMIM:617799 |
3P25.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Ataxia, Absent speech, A... |
ORPHA:435638 |
Pyruvate Carboxylase Deficiency |
|
Abnormal pyramidal sign, Tip-toe gait, Basal ganglia gliosis, Recurrent hand flapping, Apathy, At... |
ORPHA:3008 |
Gitelman Syndrome |
|
Paresthesia, Paralysis, Ataxia, Failure to thrive, Salt craving, Polydipsia |
OMIM:263800 |
Serotonin Syndrome |
|
Anxiety, Rigidity, Myoclonus, Abnormality of the autonomic nervous system, Agitation, Tremor, Hyp... |
ORPHA:43116 |
Craniofacioskeletal Syndrome |
|
Microtia, Hypospadias, Cryptorchidism, Hypocalcemia, Posteriorly rotated ears |
OMIM:300712 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, Falls, Spastic gait, Sp... |
ORPHA:447753 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemi... |
ORPHA:529799 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait ataxia, Cognitive impairment, Dysphagia, Resting tremor, Rigidity, Abnormality of extrapyram... |
ORPHA:254892 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Microtia, Hyperbilirubinemia, Hypospadias, Cryptorchidism, Hypocalcemia, Micropenis, Posteriorly ... |
ORPHA:163979 |
Sneddon Syndrome |
|
Hemiplegia, Impaired distal tactile sensation, Tremor, Mental deterioration, Facial palsy |
OMIM:182410 |
Gm1 Gangliosidosis |
|
Oral aversion, Spasticity, Cognitive impairment, Weight loss, Optic atrophy, Abnormality of extra... |
ORPHA:354 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis, Dysphagia |
ORPHA:142 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Spasticity, Cachexia, Babinski sign, Facial diplegia, Dystonia |
OMIM:618186 |
Charcot-Marie-Tooth Disease Type 4C |
|
Gait ataxia, Impaired distal vibration sensation, Optic atrophy, Decreased motor nerve conduction... |
ORPHA:99949 |
Ogden Syndrome |
|
Shuffling gait, Abnormal head movements, Torticollis, Hypertonia, Lethargy |
ORPHA:276432 |
Trisomy 18P |
|
Attention deficit hyperactivity disorder, Polyphagia, Facial palsy |
ORPHA:1715 |
Double Outlet Right Ventricle |
|
Hypocalcemia, Abnormality of cartilage of external ear |
ORPHA:3426 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Abnormal pyramidal sign, Cognitive impairment, Optic atrophy, Optic disc pallor, Delayed speech a... |
OMIM:614947 |
Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Optic atrophy, Oculomotor apraxia, Myoclonus, Choreoathetosis, Absent speech, Spastic... |
OMIM:614969 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Decreased prealbumin level, Abnormal blood ion concentration, Hypocalcemia, Hypomagnese... |
ORPHA:37042 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss, Irritability, Ataxia |
ORPHA:79242 |
Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
OMIM:613280 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Inability to walk, Dysphagia |
ORPHA:26791 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraplegia, Myoclonic spasms, Spastic tetraparesis, Gliosis, Opisthotonus |
OMIM:252150 |
Sialidosis Type 1 |
|
Myoclonus, Gait disturbance, Ataxia, Slurred speech, Tremor, Decreased nerve conduction velocity |
ORPHA:812 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Dysphagia |
OMIM:619790 |
Myopathy, Myofibrillar, 2 |
|
Dysphagia, Fasciculations |
OMIM:608810 |
Neuroblastoma, Susceptibility To, 1 |
|
Horner syndrome, Weight loss, Myoclonus, Ataxia, Failure to thrive |
OMIM:256700 |
Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Repetitive compulsive behavior, Ataxia, Action tremor, Lower limb spasticity, Dyst... |
ORPHA:66634 |
Sandhoff Disease |
|
Exaggerated startle response, Spasticity, Upper motor neuron dysfunction, Ataxia, Impaired temper... |
OMIM:268800 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Aganglionic megacolon, Weight loss |
ORPHA:95427 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Somatic sensory dysfunction, Tip-toe gait, Inability to walk, Impaired tactile sensation, Gait di... |
ORPHA:466768 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
5Q14.3 Microdeletion Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Papilledema, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Paresthesia, Weight loss, Decreased motor nerve conduction velocity, Cachexia, Decreased sensory ... |
ORPHA:298 |
Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Wilson Disease |
|
Aggressive behavior, Weight loss, Clumsiness, Hypersexuality, Failure to thrive, Depression, Incr... |
ORPHA:905 |
Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Poor fine motor coordination, Tip-toe gait, Paresthesia, Inability to walk, Optic atrophy, Decrea... |
ORPHA:99956 |
Paragangliomas 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Hypogonadism, Fair hair, Hypospadias, Cryptorchidism, Red hair, Hypocalcemia |
ORPHA:280651 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Temporal optic disc pallor, Sensorineural hearing impairment... |
ORPHA:1215 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Gait ataxia, Spasticity, Optic atrophy, Ataxia, Babinski sign, Loss of ambulation, Hyperkinetic m... |
OMIM:620089 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Hypocalcemia |
OMIM:212750 |
Prader-Willi Syndrome |
|
Poor fine motor coordination, Self-injurious behavior, Delayed speech and language development, P... |
OMIM:176270 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism |
OMIM:103580 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Delayed speech and language development, Dysmetria, Tremor |
OMIM:615578 |
Developmental And Epileptic Encephalopathy 100 |
|
Gait ataxia, Chorea, Myoclonus, Choreoathetosis, Dysphagia |
OMIM:619777 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Rigidity, Torticollis, Ataxia, Tetraparesis, Tremor, Irritability, Restlessness |
OMIM:617186 |
Isotretinoin-Like Syndrome |
|
Anotia, Microtia, Aplasia/Hypoplasia of the inner ear, Bilateral sensorineural hearing impairment... |
ORPHA:2306 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Aggressive behavior, Echolalia, Tremor, Decreased body mass index, A... |
ORPHA:247585 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Aggressive behavior, Spastic tetraplegia, Limb hypertonia, Limb dystonia, Absent speech, Ataxia, ... |
ORPHA:572798 |
O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Tremor, Fasciculations |
ORPHA:99965 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia |
OMIM:617913 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Polyphagia |
OMIM:617885 |
Macrocephaly-Developmental Delay Syndrome |
|
Delayed speech and language development, Self-injurious behavior, Abnormal repetitive mannerisms,... |
ORPHA:397612 |
Leukodystrophy, Hypomyelinating, 10 |
|
Spasticity, Inability to walk, Absent speech, Babinski sign, Failure to thrive, Hyperkinetic move... |
OMIM:616420 |
Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Macrotia, EEG abnormality, Aganglionic megacolon, Low-set, posteriorly rotated ea... |
ORPHA:175 |
Acrocraniofacial Dysostosis |
|
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:201050 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Self-injurious behavior, Impaired social interactions, Abnormal autonomic ne... |
ORPHA:293987 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Abnormal auditory evoked potentials, Optic disc pallor, Sensorineural hearing impairment, Synophrys |
OMIM:619260 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor, Facial palsy |
OMIM:259720 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Ataxia, Failure to thrive, Tremor, Lethargy, Irritability |
OMIM:201100 |
22Q11.2 Duplication Syndrome |
|
Delayed speech and language development, Abnormal repetitive mannerisms, Compulsive behaviors, At... |
ORPHA:1727 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Dysphagia |
ORPHA:684 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Hyperlysinemia |
|
Hyperactivity, Tip-toe gait, Spastic diplegia, Delayed speech and language development, Clumsines... |
ORPHA:2203 |
D-Glyceric Aciduria |
|
Spasticity, Spastic tetraplegia, Myoclonus, Optic nerve hypoplasia, Failure to thrive, Tongue thr... |
OMIM:220120 |
Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:391 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Mental deterioration, Memory impairment |
ORPHA:79095 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatinine concentration, Hypocalcemia, Hypoalbuminemia, Elevated circulatin... |
ORPHA:36234 |
Beta-Ketothiolase Deficiency |
|
Oral aversion, Spasticity, Extrapyramidal dyskinesia, Weight loss, Apathy, Ataxia, Agitation |
ORPHA:134 |
White-Sutton Syndrome |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Optic atrophy, Delayed speech and la... |
ORPHA:468678 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Suicidal ideation, Repetitive compulsive behavior, Violent behavior, Hyper... |
OMIM:619475 |
Glutaric Acidemia I |
|
Spastic diplegia, Rigidity, Delayed speech and language development, Choreoathetosis, Failure to ... |
OMIM:231670 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Hypertonia |
ORPHA:1389 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Aggressive behavior, Paresthesia, Anxiety, Weight loss, Hemiparesis,... |
ORPHA:3385 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Spasticity, Small for gestational age, Delayed speech and language development, Truncal ataxia, A... |
OMIM:220111 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Self-injurious behavior, Small for gestational age, Bulimia, Failure to thrive, Impaired temperat... |
ORPHA:98754 |
Velocardiofacial Syndrome |
|
Hypocalcemia, Cryptorchidism |
OMIM:192430 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Lesch-Nyhan Syndrome |
|
Spasticity, Self-injurious behavior, Abnormality of extrapyramidal motor function, Choreoathetosi... |
OMIM:300322 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Weight loss, Small for gestational age, Hand tremor, Agitation |
ORPHA:424 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
Aicardi-Goutieres Syndrome 9 |
|
Spasticity, Spastic tetraplegia, Spastic diplegia, Weight loss, Optic atrophy, Spastic tetrapares... |
OMIM:619487 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Gliosis |
OMIM:602613 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Fasciculations, Babinski sign |
OMIM:619733 |
X-Linked Acrogigantism |
|
Increased body mass index, Ataxia, Polyphagia |
ORPHA:300373 |
Obesity Due To Congenital Leptin Deficiency |
|
Orthostatic hypotension due to autonomic dysfunction, Obesity, Polyphagia |
ORPHA:66628 |
Flynn-Aird Syndrome |
|
Impaired pain sensation, Cachexia, Ataxia |
ORPHA:2047 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
Infantile Myofibromatosis |
|
Abnormal hair morphology, Hypercalcemia |
ORPHA:2591 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Cachexia, Absent speech, Tremor, Obesity, Broad-based gait |
ORPHA:85293 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Inability to walk, Broad-based gait, Vocal cord paralysis |
OMIM:615490 |
Wolfram Syndrome 1 |
|
Optic atrophy, Tremor, Ataxia, Dysphagia |
OMIM:222300 |
Typhoid |
|
Lethargy, Ataxia, Tremor, Hypertonia |
ORPHA:99745 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Spasticity, Ataxia, Emotional lability, Failure to thrive, Gliosis, Depression |
OMIM:124000 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic paroxysmal anxiety, Cranial nerve compression, Weight loss, Tremor, Vocal cord paralysis... |
ORPHA:29072 |
Mogs-Cdg |
|
Alopecia, Sensorineural hearing impairment, Optic atrophy, External genital hypoplasia, Absent br... |
ORPHA:79330 |
Ocular Motor Apraxia |
|
Oculomotor apraxia, Jerky head movements |
OMIM:257550 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia, Facial palsy |
ORPHA:31826 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Choreoathetosis, Progressive spastic quadriplegia, Failure to thrive, Dystonia, Nonprogressive ce... |
ORPHA:431361 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Myoclonus, Ataxia, Right hemiplegia, Loss of ambulation, Tremor, Dysphagia |
OMIM:607426 |
Prader-Willi-Like Syndrome |
|
Self-injurious behavior, Small for gestational age, Bulimia, Failure to thrive, Impaired temperat... |
ORPHA:398073 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor, Optic disc pallor |
OMIM:618527 |
1P36 Deletion Syndrome |
|
Self-injurious behavior, Optic atrophy, Delayed speech and language development, Hemiplegia/hemip... |
ORPHA:1606 |
Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Gait ataxia, Postural tremor, Myoclonus, Action tremor, Mental deterioration, Dysphagia, Unsteady... |
OMIM:254900 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Spasticity, Resting tremor, Optic atrophy, Ataxia, Babinski sign, Head tremor, Depression, Mental... |
ORPHA:314404 |
Multiple System Atrophy 1, Susceptibility To |
|
Cognitive impairment, Parkinsonism, Rigidity, Abnormal autonomic nervous system physiology, Ataxi... |
OMIM:146500 |
Dpagt1-Cdg |
|
Aggressive behavior, Head-banging, Emotional blunting, Akinesia, Inability to walk, Optic atrophy... |
ORPHA:86309 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Self-injurious behavior, Spastic tetraplegia, Cachexia, Hyperesthesia, Severe failure to thrive, ... |
ORPHA:371364 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Spasticity, Cachexia, Failure to thrive in infancy, Hypertonia |
OMIM:616801 |
Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment, Cryptorchidism |
OMIM:193700 |
Familial Gestational Hyperthyroidism |
|
Weight loss, Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea, Dementia |
ORPHA:464343 |
Postpoliomyelitis Syndrome |
|
Dysphagia, Fasciculations |
ORPHA:2942 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Autosomal Recessive Malignant Osteopetrosis |
|
Optic nerve compression, Abnormality of hair texture, Hypophosphatemia, Hypocalcemia, Hearing imp... |
ORPHA:667 |
Gangliocytoma |
|
Paresthesia, Dementia, Polyphagia |
ORPHA:251937 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Sensorineural hearing impairment, Increased VLDL cholesterol concentration, Fa... |
OMIM:243800 |
22Q11.2 Deletion Syndrome |
|
Small earlobe, Conductive hearing impairment, Optic atrophy, Aganglionic megacolon, Abnormality o... |
ORPHA:567 |
Hennekam Syndrome |
|
Conductive hearing impairment, Sparse axillary hair, External ear malformation, Low-set ears, Hyp... |
ORPHA:2136 |
3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Myoclonus, Choreoathetosis, Ataxia, Tremor, Hyperkinetic movements, Opisthotonus, Dys... |
OMIM:616271 |
Congenital Myopathy 15 |
|
Vocal cord paralysis |
OMIM:620161 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Abnormal repetitive mannerisms |
ORPHA:2479 |
Transketolase Deficiency |
|
Self-injurious behavior, Delayed speech and language development, Abnormal repetitive mannerisms,... |
ORPHA:488618 |
Weaver Syndrome |
|
Poor fine motor coordination, Spasticity, Delayed speech and language development, Slurred speech... |
OMIM:277590 |
Cranioectodermal Dysplasia 1 |
|
Short nail, Fine hair, Low-set ears, Hypocalcemia, Sparse hair, Protruding ear, Slow-growing hair |
OMIM:218330 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Fasciculations |
ORPHA:1143 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Agitation, Tremor, Progressive neurologic deterioration, Lethargy, Inc... |
ORPHA:263455 |
Ataxia-Telangiectasia |
|
Dysdiadochokinesis, Inability to walk, Delayed speech and language development, Myoclonus, Choreo... |
OMIM:208900 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Speech apraxia |
ORPHA:529965 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Delayed speech and language development, Tremor, Ataxia |
ORPHA:713 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Whipple Disease |
|
Abnormal pyramidal sign, Myoclonus, Cachexia, Ataxia, Depression, Polydipsia |
ORPHA:3452 |
Hirschsprung Disease |
|
Aganglionic megacolon, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Sensorineural hearing impairment, Abnormal autonomic nervous system physiology, Aganglionic megac... |
OMIM:609136 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Decreased testicular size, Hypocalcemic seizures, Papille... |
ORPHA:93325 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Pearson Syndrome |
|
Hyperalaninemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hearing impairment |
ORPHA:699 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
3-Methylglutaconic Aciduria Type 7 |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Cho... |
ORPHA:445038 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Delayed speech and language development, Gait disturbance, Absent spee... |
ORPHA:464311 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Paragangliomas 3 |
|
Episodic paroxysmal anxiety, Vocal cord paralysis |
OMIM:605373 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Holoprosencephaly |
|
Chorea, Spasticity, Cognitive impairment, Optic atrophy, Dystonia, Failure to thrive in infancy |
ORPHA:2162 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Liver Disease, Severe Congenital |
|
Dry hair, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Hydrocele tes... |
OMIM:619991 |
Prader-Willi Syndrome |
|
Delayed speech and language development, Failure to thrive, Polyphagia, Impaired temperature sens... |
ORPHA:739 |
Cockayne Syndrome Type 1 |
|
Macrotia, Abnormality of peripheral nerve conduction, Optic atrophy, Absent brainstem auditory re... |
ORPHA:90321 |
Spondyloenchondrodysplasia |
|
Chorea, Spasticity |
ORPHA:1855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Spasticity, Gait imbalance, Spastic diplegia, Delayed speech and language development, Gait distu... |
OMIM:300966 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Vocal cord paresis, Distal sensory impairment, Decreased distal sensory nerve action potential |
OMIM:606071 |
Wiedemann-Steiner Syndrome |
|
Hyperactivity, Aggressive behavior, Delayed speech and language development, Psychomotor deterior... |
ORPHA:319182 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Joubert Syndrome With Renal Defect |
|
Oculomotor apraxia, Aganglionic megacolon, Gait disturbance, Ataxia, Tremor |
ORPHA:220497 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Choreoathetosis, Ataxia, Failure to thrive, Dysphagia, Dystonia |
OMIM:615471 |
Osteopetrosis With Renal Tubular Acidosis |
|
Macrotia, Conductive hearing impairment, Cranial nerve compression, Optic atrophy, Elevated circu... |
ORPHA:2785 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, High anterior hairline, Horizontal eyebrow, Macrotia, Medial flaring of the e... |
OMIM:619503 |
Gabriele-De Vries Syndrome |
|
Tip-toe gait, Delayed speech and language development, Tremor, Attention deficit hyperactivity di... |
OMIM:617557 |
Gitelman Syndrome |
|
Hypokalemia, Hypermagnesemia, Tinnitus, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Unconjugated hyperbilirubinemia, Hypocalcemia, Small scrotum, Hypoalbuminemia |
OMIM:613658 |
Joubert Syndrome |
|
Oculomotor apraxia, Aganglionic megacolon, Gait disturbance, Ataxia, Tremor |
ORPHA:475 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Polyphagia |
OMIM:609734 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
D-Bifunctional Protein Deficiency |
|
Failure to thrive, Decreased nerve conduction velocity, Gliosis |
OMIM:261515 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Spasticity, Choreoathetosis, Spastic diplegia |
ORPHA:2715 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia, Hearing impairment |
OMIM:156400 |
Giant Cell Arteritis |
|
Paresthesia, Weight loss, Optic atrophy, Ataxia, Depression |
ORPHA:397 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:500159 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Prader-Willi Syndrome Due To Translocation |
|
Head-banging, Impaired social interactions, Delayed speech and language development, Happy demean... |
ORPHA:177907 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Ataxia |
ORPHA:42 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis |
OMIM:231680 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Small for gestational age, Delayed speech and language development, Gait disturban... |
ORPHA:464306 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Spasticity, Upper limb spasticity, Large for gestational age, Absent speech, Gliosis, Lower limb ... |
OMIM:300868 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Periodic hypokalemic paresis, Depression |
OMIM:170390 |
Brucellosis |
|
Chorea, Weight loss, Small for gestational age, Failure to thrive, Depression, Abnormality of the... |
ORPHA:1304 |
Papillorenal Syndrome |
|
Optic disc coloboma, Gliosis |
OMIM:120330 |
Paragangliomas 1 |
|
Episodic paroxysmal anxiety, Vocal cord paralysis |
OMIM:168000 |
Encephalocraniocutaneous Lipomatosis |
|
Spasticity, Hemiparesis, Rigidity, Paralysis, Hemiplegia, Hypertonia, Tetraplegia |
ORPHA:2396 |
Andersen-Tawil Syndrome |
|
Periodic paralysis, Periodic hypokalemic paresis, Periodic hyperkalemic paralysis |
ORPHA:37553 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Oculomotor apraxia, Paralysis, Limb ataxia, Cachexia, Spastic paraplegia, Hypertonia, Papilledema |
ORPHA:2072 |
Acute Intermittent Porphyria |
|
Restlessness, Somatic sensory dysfunction, Respiratory paralysis, Pseudobulbar paralysis, Tremor,... |
ORPHA:79276 |
Monosomy 13Q34 |
|
Horizontal eyebrow, Hypercalcemia, Abnormal earlobe morphology, Posteriorly rotated ears |
ORPHA:96168 |
Paget Disease Of Bone 2, Early-Onset |
|
Bilateral conductive hearing impairment, Hypercalcemia |
OMIM:602080 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Multifocal epileptiform discharges, EEG with generalized sharp slow waves, He... |
ORPHA:369837 |
Hydroxykynureninuria |
|
Abnormal repetitive mannerisms, Hypertonia |
ORPHA:79155 |
De Sanctis-Cacchione Syndrome |
|
Spasticity, Optic atrophy, Choreoathetosis, Ataxia, Babinski sign, Scissor gait, Hypertonia, Ment... |
OMIM:278800 |
Xeroderma Pigmentosum, Complementation Group A |
|
Spasticity, Choreoathetosis, Ataxia, Mental deterioration, Distal sensory impairment |
OMIM:278700 |
Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
Early Infantile Epileptic Encephalopathy |
|
Spasticity, Hyperactivity, Self-injurious behavior, Myoclonus, Choreoathetosis, Episodic ataxia, ... |
ORPHA:1934 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Abnormal repetitive mannerisms, Absent speech, Hypertonia, Opisthotonus, No so... |
ORPHA:508533 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Weight loss, Myoclonus, Apathy, Ataxia, Spastic hemiparesis |
ORPHA:20 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Spasticity, Abnormal pyramidal sign, Self-injurious behavior, Abnormal repetitive mannerisms, Opt... |
ORPHA:468631 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
Addison Disease |
|
Hyperuricemia, Primary testicular failure, Sparse axillary hair, Hyperkalemia, Increased circulat... |
ORPHA:85138 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Delayed speech and language development, Repetitive compulsive behavior, Absent spee... |
ORPHA:513456 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, Ataxia, Tremor, Dysphagia, Facial palsy |
OMIM:164310 |
Charge Syndrome |
|
Sensorineural hearing impairment, Microtia, External genital hypoplasia, Aplasia of the semicircu... |
OMIM:214800 |
Von Hippel-Lindau Syndrome |
|
Sensorineural hearing impairment, Papillary cystadenoma of the epididymis, Tinnitus, Epididymal cyst |
OMIM:193300 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality |
ORPHA:206448 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Choreoathetosis, Ataxia, Difficulty walking, Dystonia, Broad-based gait |
OMIM:610978 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypophosphatemia, Hypercalcemia, Testicular neoplasm, Ovarian cyst... |
ORPHA:249 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Sparse axillary hair, Hyperkalemia, Increased circulating renin level, Hypercalcem... |
ORPHA:95409 |
Rift Valley Fever |
|
Hemiparesis, Paraparesis, Paralysis, Decerebrate rigidity |
ORPHA:319251 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Okur-Chung Neurodevelopmental Syndrome |
|
Delayed speech and language development, Recurrent hand flapping, Ataxia, Absent speech, Failure ... |
OMIM:617062 |
Sialuria |
|
Hyperkinetic movements, Attention deficit hyperactivity disorder, Memory impairment, Expressive l... |
ORPHA:3166 |
Primary Sjögren Syndrome |
|
Chorea, Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Cognitive impa... |
ORPHA:289390 |
New-Onset Refractory Status Epilepticus |
|
Cognitive impairment, Abnormal head movements |
ORPHA:363558 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Hyperkalemia, Hypercalcemia, Hyponatremia, Orthostatic hypotension |
ORPHA:199299 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Paralysis, Polydipsia |
ORPHA:18 |
Diets-Jongmans Syndrome |
|
Delayed speech and language development, Aggressive behavior, Attention deficit hyperactivity dis... |
OMIM:618846 |
2Q37 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive beh... |
ORPHA:1001 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Spasticity, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal motor function,... |
OMIM:612199 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Cockayne Syndrome B |
|
Dry hair, Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, D... |
OMIM:133540 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Gait disturbance, Vocal cord paralysis, Obesity, Waddling gait |
ORPHA:98863 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Cognitive impairment, Optic atrophy, Apathy, Ataxia, Tremor, Optic neuropathy, Dystonia |
OMIM:610505 |
Triosephosphate Isomerase Deficiency |
|
Spasticity, Failure to thrive, Tremor, Unsteady gait, Optic disc pallor, Dystonia |
OMIM:615512 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiolog... |
ORPHA:330001 |
Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Gait disturbance, Vocal cord paralysis, Obesity, Waddling gait |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Tip-toe gait, Gait disturbance, Vocal cord paralysis, Obesity, Waddling gait |
ORPHA:98853 |
Cockayne Syndrome A |
|
Dry hair, Sensorineural hearing impairment, Optic atrophy, Hypogonadism, Abnormal auditory evoked... |
OMIM:216400 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
Kleefstra Syndrome |
|
Aggressive behavior, Self-injurious behavior, Delayed speech and language development, Abnormal r... |
ORPHA:261494 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Alopecia universalis, Hearing impairment, Hypocalcemic seizures |
OMIM:277440 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma, Failure to thrive, Irritability, Weight loss |
ORPHA:92050 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal repetitive mannerisms, Absent speech |
ORPHA:261144 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Optic atrophy, Spasticity, Cachexia, Ataxia |
ORPHA:220295 |
Trisomy 10P |
|
Macrotia, Low voltage EEG, EEG with burst suppression, EEG with focal spikes, Abnormal auditory e... |
ORPHA:171929 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Pineoblastoma |
|
Cognitive impairment, Papilledema, Paralysis, Progressive neurologic deterioration, Lethargy, Mem... |
ORPHA:251909 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol, Cr... |
ORPHA:401973 |
Craniopharyngioma |
|
Papilledema, Obesity, Polyphagia, Optic atrophy |
ORPHA:54595 |
Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
Fabry Disease |
|
Abnormal autonomic nervous system physiology, Paresthesia, Fasciculations |
OMIM:301500 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Aggressive behavior, Myoclonus, Choreoathetosis, Failure to thrive, Hypertonia, Hyperkinetic move... |
ORPHA:17 |
Xeroderma Pigmentosum, Complementation Group D |
|
Spasticity, Choreoathetosis, Ataxia, Mental deterioration |
OMIM:278730 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Rigidity, Dementia, Tremor, Progressive neurologic deterioration, Hypertonia |
OMIM:176500 |
Peripheral Primitive Neuroectodermal Tumor |
|
Somatic sensory dysfunction, Torticollis, Weight loss |
ORPHA:370348 |
Menkes Disease |
|
Chorea, Spasticity, Hypertonia |
ORPHA:565 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... |
ORPHA:353281 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia, Irritability |
ORPHA:1578 |
Sandifer Syndrome |
|
Torticollis, Abnormal head movements |
ORPHA:71272 |
Acquired Central Diabetes Insipidus |
|
Weight loss, Polydipsia |
ORPHA:95626 |
Adrenocortical Carcinoma |
|
Weight loss, Anxiety, Panic attack, Irritability, Increased body weight |
ORPHA:1501 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Visceral Steatosis, Congenital |
|
Hypocalcemia |
OMIM:228100 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Riddle Syndrome |
|
Poor hand-eye coordination, Weight loss, Clumsiness, Emotional lability, Ataxia |
ORPHA:420741 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypospadias, Elevated ci... |
OMIM:137920 |
Familial Hypocalciuric Hypercalcemia |
|
Hypocalcemic seizures, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:405 |
Digeorge Syndrome |
|
Low-set ears, Ovarian cyst, Hypocalcemia, Hydrocele testis |
OMIM:188400 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Hemiplegia/hemiparesis, Weight loss, Dysphagia |
ORPHA:183 |
Eosinophilic Gastroenteritis |
|
Weight loss, Dysphagia |
ORPHA:2070 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Weight loss, Cachexia, Hypoesthesia, Dysphagia, Slender build, Distal sensory impairment |
OMIM:603041 |
Mucopolysaccharidosis Type 3 |
|
Spasticity, Abnormal pyramidal sign, Aggressive behavior, Hyperactivity, Optic atrophy, Hypersexu... |
ORPHA:581 |
Medullary Thyroid Carcinoma |
|
Weight loss, Dysphagia |
ORPHA:1332 |
Norrie Disease |
|
Self-injurious behavior, Optic atrophy, Cachexia, Abnormal repetitive mannerisms, Failure to thri... |
ORPHA:649 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypocalcemic tetany, Hypophosphatemic rickets, Sensorineural hearing impa... |
ORPHA:289176 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Repetitive compulsive behavior, Abno... |
ORPHA:805 |
Xfe Progeroid Syndrome |
|
Poor coordination, Cachexia, Failure to thrive, Optic atrophy |
OMIM:610965 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Delayed speech and language development, Impaired pain sensation, Ob... |
ORPHA:48652 |
Poems Syndrome |
|
Papilledema, Hyperesthesia, Paresthesia, Weight loss |
ORPHA:2905 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Hypercalcemia |
ORPHA:99880 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Aicardi-Goutieres Syndrome 7 |
|
Tetraplegia, Limb hypertonia, Weight loss, Spastic tetraparesis, Tetraparesis, Lower limb spastic... |
OMIM:615846 |
Mucopolysaccharidosis Type 2 |
|
Hyperactivity, Aggressive behavior, Cognitive impairment, Optic atrophy, Abnormal repetitive mann... |
ORPHA:580 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc coloboma, Aggressive behavior, Optic atrophy, Impaired social interactions, Optic disc... |
OMIM:607872 |
Al Amyloidosis |
|
Weight loss, Abnormal autonomic nervous system physiology, Dysphagia, Autonomic erectile dysfunct... |
ORPHA:85443 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Parathyroid Carcinoma |
|
Testicular neoplasm, Hypophosphatemia, Uterine leiomyoma, Hypercalcemia |
ORPHA:143 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Delayed speech and language development, Gliosis |
OMIM:617403 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Aggressive behavior, Delayed speech and language development, Ataxia, Impulsivity, Tremor, Slende... |
OMIM:300967 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Erdheim-Chester Disease |
|
Weight loss, Polydipsia, Ataxia |
ORPHA:35687 |
Floating-Harbor Syndrome |
|
Conductive hearing impairment, Congenital posterior urethral valve, Low posterior hairline, Gener... |
OMIM:136140 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss, Tetraplegia |
ORPHA:361 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Hyperchloriduri... |
OMIM:601678 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Apathy, Weight loss |
ORPHA:465508 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Weight loss, Failure to thrive, Ataxia |
ORPHA:99885 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
Tyrosinemia, Type I |
|
Periodic paralysis, Failure to thrive |
OMIM:276700 |
Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors, Failure to thrive,... |
ORPHA:534 |
Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Cervical neoplasm, Ganglioneuromatosis, Hypercalcemia |
ORPHA:653 |
Multiple Endocrine Neoplasia Type 4 |
|
Testicular neoplasm, Hypercalcemia, Cervix cancer |
ORPHA:276152 |
Alveolar Echinococcosis |
|
Hemiparesis, Weight loss, Ataxia |
ORPHA:284 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Social and occupational deterioratio... |
ORPHA:353277 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Scorpion Envenomation |
|
Paresthesia, Myoclonus, Ataxia, Tremor, Hyperkinetic movements, Hemifacial spasm, Restlessness |
ORPHA:466677 |
Acute Promyelocytic Leukemia |
|
Alcoholism, Weight loss |
ORPHA:520 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Hemiplegia |
ORPHA:3217 |
Acrodermatitis Enteropathica |
|
Weight loss, Failure to thrive, Emotional lability |
ORPHA:37 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Tsh-Secreting Pituitary Adenoma |
|
Periodic hypokalemic paresis, Tremor, Weight loss |
ORPHA:91347 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Hypophosphatemic Rickets |
|
Hypophosphatemia, Precocious puberty, Hypercalcemia |
ORPHA:437 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Esophageal Atresia |
|
Oral aversion, Small for gestational age, Hypertonia, Dysphagia, Vocal cord paresis, Failure to t... |
ORPHA:1199 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Schinzel-Giedion Syndrome |
|
Spasticity, Aganglionic megacolon, Ependymoma, Vocal cord paralysis, Hypertonia, Dysphagia, Failu... |
ORPHA:798 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Behçet Disease |
|
Abnormal pyramidal sign, Paresthesia, Weight loss, Hemiparesis, Ataxia, Irritability |
ORPHA:117 |
Polymyositis |
|
Weight loss |
ORPHA:732 |
Simple Cryoglobulinemia |
|
Paresthesia, Weight loss, Spontaneous pain sensation |
ORPHA:91139 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Carney-Stratakis Syndrome |
|
Weight loss, Dysphagia |
ORPHA:97286 |
Schwartz-Jampel Syndrome |
|
Blepharospasm, Decreased body weight, Cachexia, Attention deficit hyperactivity disorder, Hyperto... |
ORPHA:800 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Von Hippel-Lindau Disease |
|
Papilledema, Papillary cystadenoma of the epididymis, Epididymal cyst |
ORPHA:892 |
Camurati-Engelmann Disease |
|
Optic nerve compression, Optic atrophy, Cachexia, Ataxia, Slender build, Facial palsy |
ORPHA:1328 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss, Dysphagia |
ORPHA:1018 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:71273 |
Silver-Russell Syndrome |
|
Cachexia, Failure to thrive in infancy, Obesity |
ORPHA:813 |
Vipoma |
|
Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Mowat-Wilson Syndrome |
|
Spasticity, Decreased body weight, Inability to walk, Impaired social interactions, Aganglionic m... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Poor fine motor coordination, Spasticity, Inability to walk, Aganglionic megacolon, Happy demeano... |
ORPHA:261537 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis, Optic atrophy |
ORPHA:324540 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
Floating-Harbor Syndrome |
|
Precocious puberty, Conductive hearing impairment, Congenital posterior urethral valve, Cochlear ... |
ORPHA:2044 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Van Esch-O'Driscoll Syndrome |
|
Spasticity, Impulsivity, Unilateral vocal cord paralysis, Attention deficit hyperactivity disorder |
OMIM:301030 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss |
ORPHA:2126 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Macrotia, Sensorineural hearing impairment, Precocious ... |
ORPHA:904 |
Ppoma |
|
Hypercalcemia |
ORPHA:97278 |
Pontocerebellar Hypoplasia Type 7 |
|
Spasticity, Optic atrophy, Myoclonus, Hypertonia, Involuntary movements, Fasciculations |
ORPHA:284339 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Facial palsy, Abnormal optic disc morphology, Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:508498 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Toxic Epidermal Necrolysis |
|
Weight loss, Polydipsia, Dysphagia |
ORPHA:537 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Somatostatinoma |
|
Hypercalcemia |
ORPHA:97283 |
Juvenile Dermatomyositis |
|
Weight loss, Dysphagia |
ORPHA:93672 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Poor fine motor coordination, Spasticity, Inability to walk, Optic atrophy, Aganglionic megacolon... |
ORPHA:261552 |
Grfoma |
|
Hypercalcemia |
ORPHA:97261 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Trisomy 18 |
|
Cachexia, Hypertonia |
ORPHA:3380 |
Sotos Syndrome |
|
Conductive hearing impairment, Congenital posterior urethral valve, Aganglionic megacolon, Phimos... |
ORPHA:821 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Glucagonoma |
|
Hypercalcemia |
ORPHA:97280 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Polyphagia |
OMIM:608594 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Sarcoidosis |
|
Alopecia, Abnormal reproductive system morphology, Hypercalcemia, Facial palsy |
ORPHA:797 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Polyphagia |
OMIM:269700 |
Neutral Lipid Storage Myopathy |
|
Obesity, Difficulty walking, Fasciculations |
ORPHA:98908 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Sensorineural hearing impairment, Premature graying of hair, Large... |
OMIM:194050 |
Stevens-Johnson Syndrome |
|
Weight loss, Dysphagia |
ORPHA:36426 |
Osteopetrosis, Autosomal Recessive 7 |
|
Optic nerve compression, Optic atrophy, Hypocalcemic seizures |
OMIM:612301 |
Degcags Syndrome |
|
Small for gestational age, Choking episodes, Failure to thrive, Vocal cord paralysis, Oral-pharyn... |
OMIM:619488 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight |
ORPHA:2298 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss, Ependymoma, Cranial nerve compression, Depression |
ORPHA:652 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Alström Syndrome |
|
Poor fine motor coordination, Somatic sensory dysfunction, Cognitive impairment, Optic disc pallo... |
ORPHA:64 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Nijmegen Breakage Syndrome |
|
Glioma, Cachexia, Attention deficit hyperactivity disorder |
ORPHA:647 |
Cystinosis, Nephropathic |
|
Weight loss, Dysphagia, Failure to thrive in infancy, Polydipsia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Kikuchi-Fujimoto Disease |
|
Weight loss, Ataxia |
ORPHA:50918 |
Codas Syndrome |
|
Vocal cord paresis |
OMIM:600373 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss, Dysphagia |
ORPHA:2020 |
Granulomatosis With Polyangiitis |
|
Weight loss, Hemiplegia |
ORPHA:900 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Feingold Syndrome 1 |
|
Vocal cord paralysis |
OMIM:164280 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Primary Sclerosing Cholangitis |
|
Weight loss, Depression |
ORPHA:171 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Fanconi Anemia |
|
Aganglionic megacolon, Weight loss |
ORPHA:84 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Mucolipidosis Type Ii |
|
Weight loss |
ORPHA:576 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Postinfectious Vasculitis |
|
Weight loss, Abnormality of the peripheral nervous system |
ORPHA:48435 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Suicidal ideation, Weight loss, Increased body weight, Emotional lability, Truncal obesity, Depre... |
ORPHA:99889 |
Crimean-Congo Hemorrhagic Fever |
|
Agitation, Emotional lability, Fasciculations |
ORPHA:99827 |
Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100077 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Weight loss |
ORPHA:79078 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Sarcoidosis, Susceptibility To, 1 |
|
Optic neuropathy, Weight loss |
OMIM:181000 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Stickler Syndrome |
|
Cachexia, Hemiplegia/hemiparesis, Slender build |
ORPHA:828 |
Marfan Syndrome |
|
Slender build, Cachexia, Attention deficit hyperactivity disorder |
ORPHA:558 |
Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
Chronic Graft Versus Host Disease |
|
Weight loss, Dysphagia |
ORPHA:99921 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Weight loss |
ORPHA:91500 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Low-set ears, Sparse hair |
OMIM:619910 |