| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Becker Muscular Dystrophy |
|
Tip-toe gait, Falls, Elevated hepatic transaminase, Abnormal urinary color, Skeletal muscle atrop... |
ORPHA:98895 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Hoffmann sign, Spasticity, Tip-toe gait, Urinary... |
OMIM:615625 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Elevated circulating creatine kinas... |
OMIM:160120 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Gait ataxia, Ankle clonus, Lower limb muscle weakness, Limb ataxia, Ataxia, Babinski sign, Skelet... |
ORPHA:488594 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Hand tremor, Babinski sign, L... |
ORPHA:401840 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukodystrophy... |
OMIM:614561 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Huntington Disease-Like 2 |
|
Chorea, Weight loss, Parkinsonism, Gait disturbance, Involuntary movements, Dystonia |
ORPHA:98934 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Chorea, Rigidity, Torticollis, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Hyp... |
ORPHA:98810 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Chorea, 3-Methylglutaconic aciduria, Spasticity, Abnormality of extrapyramidal motor function, At... |
OMIM:258501 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Parkinsonism, Myoclonus, Choreoathetosis, Ataxia, Dystonia |
OMIM:125370 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Hemiparesis, Apraxia, Myoclonus, Choreoathetosis, ... |
ORPHA:71277 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Chorea, Paresthesia, Choreoathetosis, Ataxia, Torsion dystonia, Paroxysmal dyskinesia, Lower limb... |
ORPHA:98811 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity... |
OMIM:213600 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Chorea, Choreoathetosis, Failure to thrive, Homocystinuria, Delayed CNS myelination, Methylmaloni... |
OMIM:309541 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Chorea, Lingual dystonia, Myoclonus, Poor motor coordination, Incoordination, Babinski sign, Diff... |
OMIM:500003 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... |
ORPHA:216873 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Urinary incontinence, Chorea, Parkinsonism, Cachexia, Ataxia, Babinski sign, Dysmetr... |
OMIM:618093 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Dystonia, Involuntary movements |
OMIM:611031 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Spinocerebellar Ataxia 17 |
|
Gait ataxia, Chorea, Urinary incontinence, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxi... |
OMIM:607136 |
| Spinocerebellar Ataxia Type 2 |
|
Gait ataxia, Chorea, Postural tremor, Parkinsonism, Spinal cord posterior columns myelin loss, Ki... |
ORPHA:98756 |
| Genetic Recurrent Myoglobinuria |
|
Lower limb muscle weakness, Abnormality of jaw muscles, Acute kidney injury, Exercise-induced myo... |
ORPHA:99845 |
| Hyperbiliverdinemia |
|
Decreased liver function, Green urine, Cholestasis, Cholelithiasis |
OMIM:614156 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Abnormal urinary color, Hepatomegaly |
ORPHA:234 |
| Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Akinesia, Inability to walk, Resting tremor... |
ORPHA:391411 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Juvenile Huntington Disease |
|
Gait ataxia, Chorea, Weight loss, Rigidity, Myoclonus, Ataxia, Progressive cerebellar ataxia, Dys... |
ORPHA:248111 |
| Dystonia With Ringbinden |
|
Chorea, Dystonia, Gait disturbance |
OMIM:224550 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Chorea, Spasticity, Abnormal pyramidal sign, Decreased body weight, Inability to walk, Parkinsoni... |
OMIM:617672 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Falls, Poor coordination, Ataxia, Paroxysmal dyskinesia, Dystonia |
OMIM:619150 |
| Chorea, Benign Hereditary |
|
Chorea, Gait disturbance, Frequent falls |
OMIM:118700 |
| Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Athetosis, Dystonia, Delayed myelination |
OMIM:615473 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Chorea, Spasticity, Delayed myelination, Cerebral palsy, Choreoathetosis, Babinski sign, Ptosis, ... |
OMIM:618451 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Ataxia, Hypoesthesia, Dysmetria, Slurred speech, D... |
OMIM:618317 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Chorea, Writer's cramp, Involuntary movements, Athetosis, Dystonia |
ORPHA:98809 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment, Mildly elevated creatine kinase |
OMIM:614369 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Ptosis, Head tremor, Action tremor |
OMIM:620158 |
| Developmental And Epileptic Encephalopathy 37 |
|
Chorea, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Cogwheel rigidity, Hy... |
OMIM:616981 |
| Glycogen Storage Disease V |
|
Exercise-induced rhabdomyolysis, Myoglobinuria, Dark urine, Rhabdomyolysis |
OMIM:232600 |
| Neurodegeneration With Brain Iron Accumulation |
|
Chorea, Spasticity, Rigidity, Abnormality of extrapyramidal motor function, Dystonia |
ORPHA:385 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ankle clonus, Urinary bladder sphincter dysfunction, Spastic gait, Lower limb muscle weakness, At... |
OMIM:610357 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Truncal ataxia, Oculomotor apraxia, Lim... |
OMIM:208920 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... |
ORPHA:397946 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Chorea, Anemia, Choreoathetosis, Hemiplegia/hemiparesis, Thrombocytopenia, Hepatomegaly, Lethargy... |
ORPHA:289916 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Chorea, Resting tremor, Ataxia, Mildly elevated creatine kinase, Ptosis, Progressive extrapyramid... |
ORPHA:401768 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
| 3-Methylglutaconic Aciduria Type 3 |
|
3-Methylglutaconic aciduria, Choreoathetosis, Gait disturbance, Ataxia, Spastic paraparesis |
ORPHA:67047 |
| Harderoporphyria |
|
Increased urine harderoporphyrin level, Red urine, Hepatomegaly, Increased urinary porphobilinoge... |
OMIM:618892 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Abnormal eyelid morphology, Spastic ataxia, Spas... |
ORPHA:251282 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Delayed myelination, Spastic tetraplegia, Appendicular spasticity, Clonus |
OMIM:613811 |
| Huntington Disease-Like 2 |
|
Chorea, Weight loss, Rigidity, Action tremor, Dystonia, Bradykinesia |
OMIM:606438 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Ankle clonus, Urinary blad... |
OMIM:604187 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Muscle fiber atrophy, Rhabdomyolysis, Stage 5 chronic kidney diseas... |
ORPHA:228302 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Rhabdomyolysis, Acute kidney injury, Exercise-induced myoglobinuria, Glycogen accumulation in mus... |
ORPHA:368 |
| Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Difficulty walking, Distal sensory im... |
OMIM:615048 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Elevated circulating creatine kinase concentration, Focal dystonia, Trem... |
ORPHA:309169 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Inability to walk, Cachexia, Axial dystonia, Difficulty walking, Hypertonia, Arm dystonia, Spasti... |
ORPHA:300605 |
| Infantile Convulsions And Choreoathetosis |
|
Chorea, Choreoathetosis, Paroxysmal dyskinesia, Involuntary movements, Athetosis, Dystonia |
ORPHA:31709 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor |
ORPHA:217012 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Urocanic aciduria, Broad-based gait |
OMIM:276880 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Spastic gait, Abnormal myelination, Babinski sign, Difficulty wal... |
ORPHA:401820 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Dark urine |
OMIM:301015 |
| Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
| Hereditary Coproporphyria |
|
Porphyrinuria, Hepatocellular carcinoma, Nephropathy, Proximal muscle weakness in upper limbs, In... |
ORPHA:79273 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... |
ORPHA:240094 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking |
ORPHA:423296 |
| Myopathy With Extrapyramidal Signs |
|
Chorea, Epicanthus, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis, El... |
OMIM:615673 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Autosomal Dominant Cerebellar Ataxia |
|
Somatic sensory dysfunction, Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuro... |
ORPHA:99 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Chorea, Falls, Rigidity, Abnormality of extrapyramidal motor function, Oculogyric crisis, Choreoa... |
ORPHA:13 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Poor fine motor coordination, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Chorea, Dystonia, Inability to walk |
OMIM:618760 |
| Myoclonus, Intractable, Neonatal |
|
Chorea, Myoclonus, Ptosis, Delayed CNS myelination, Athetosis |
OMIM:617235 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Gait ataxia, Chorea, Inability to walk, Ataxia, Dysmetria |
OMIM:618501 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Chorea, Bradykinesia, Lethargy, Ataxia |
OMIM:618683 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Huntington Disease-Like 1 |
|
Chorea, Rigidity, Incoordination, Dysmetria, Unsteady gait |
OMIM:603218 |
| Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb apraxia... |
ORPHA:454887 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, CNS demyelination, Limb ataxia, Bab... |
OMIM:610245 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Chorea, Spasticity, Delayed CNS myelination, Involuntary movements, Hyperkinetic movements, Athet... |
OMIM:617493 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Elevated circulating creatine kinase concentration, Demyelinating sensory ne... |
OMIM:618387 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Hand tremor, Tremor, Diffic... |
ORPHA:98764 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... |
ORPHA:53351 |
| Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Chorea, Inability to walk, Spastic tetraplegia, Failure to thrive, Duplicated collecting system, ... |
OMIM:620071 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance |
OMIM:607674 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Chorea, Abnormality of extrapyramidal motor function, Ataxia, Progressive extrapyramidal movement... |
ORPHA:382 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Chorea, Spasticity, Blepharospasm, Rigidity, Clumsiness, Myoclonus, Gait disturbance, Ataxia, Bab... |
OMIM:617282 |
| Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
| Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Spasticity, Dystonia, Myoclonus |
OMIM:616139 |
| Infantile Dystonia-Parkinsonism |
|
Chorea, Abnormal pyramidal sign, Limb hypertonia, Parkinsonism, Cerebral palsy, Oculogyric crisis... |
ORPHA:238455 |
| Hartnup Disease |
|
Neutral hyperaminoaciduria, Abnormal urinary color, Ataxia |
ORPHA:2116 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatic failure, Rhabdomyolysis, Elevated hepatic transaminase, Hepatic steatosis, Myopathy, Red-... |
ORPHA:228305 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
| Spinocerebellar Ataxia Type 1 |
|
Chorea, Gait imbalance, Dysdiadochokinesis, Postural tremor, Gait disturbance, Impaired proprioce... |
ORPHA:98755 |
| Folinic Acid-Responsive Seizures |
|
Chorea, Delayed myelination, Cerebral hypomyelination, Ataxia, Spastic tetraparesis, Difficulty w... |
ORPHA:79097 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Nephrotic syndrome, Abnormal myelination, Hand tremor, Lower limb... |
ORPHA:401835 |
| Ataxia-Telangiectasia-Like Disorder |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Myoclonus, Ataxia, Dysmetria, Freque... |
ORPHA:251347 |
| Developmental And Epileptic Encephalopathy 64 |
|
Chorea, Delayed myelination, Limb hypertonia, Inability to walk, Epicanthus, Hemiparesis, Dystonia |
OMIM:618004 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Huntington Disease |
|
Gait ataxia, Rigidity, Bradykinesia, Chorea |
OMIM:143100 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Spinocerebellar Ataxia Type 17 |
|
Chorea, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Rigidity, Writer's cram... |
ORPHA:98759 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Chorea, Athetosis, Parkinsonism |
OMIM:615483 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ... |
OMIM:607483 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Hepatic fibrosis, Hepatic failure, Paresthesia, Spasticity, Limb ataxia, Hepatic bri... |
OMIM:616719 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
| Huntington Disease |
|
Chorea, Poor fine motor coordination, Gait imbalance, Weight loss, Inability to walk, Rigidity, C... |
ORPHA:399 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Failure to thrive, Tremor, Ataxia, Epicanthus |
OMIM:618951 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Spasticity, Inability to walk, Oculogyric crisis, Myoclonus, Hyperkinetic movements, Dyst... |
OMIM:614254 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Delayed CNS myelination, Cogwheel rigidi... |
OMIM:619725 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Dysdiadochokinesis, Postural tremor... |
OMIM:128230 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Chorea, Poor fine motor coordination, Weight loss, Clumsiness, Gait disturbance, Inc... |
ORPHA:157941 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Paroxysmal dystonia, Hemiparesis, Myoclonus, Choreoathetosis, Paralysis, Ataxia, Babi... |
OMIM:606777 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Gait disturbance, Parkins... |
OMIM:606693 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia |
OMIM:614203 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Gordon Holmes Syndrome |
|
Chorea, Ataxia |
OMIM:212840 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Porphyria |
|
Abnormal urinary color, Paresthesia, Dupuytren contracture, Cerebral palsy |
ORPHA:738 |
| Cold Agglutinin Disease |
|
Abnormal urinary color, Splenomegaly, Hepatomegaly |
ORPHA:56425 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Gait ataxia, Chorea, Dysdiadochokinesis, Oculomotor apraxia, Choreoathetosis, Ataxia, Dysmetria, ... |
OMIM:604391 |
| Mepan Syndrome |
|
Chorea, Spasticity, Limb dystonia, Hemidystonia, Myoclonus, Gait disturbance, Ataxia, Failure to ... |
ORPHA:508093 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Renal cyst, Hepatic steatosis, Giant ce... |
ORPHA:79303 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Urinary bladder sphincter ... |
OMIM:600363 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Developmental And Epileptic Encephalopathy 6B |
|
Chorea, Inability to walk, Myoclonus, Choreoathetosis, Ataxia, Hyperkinetic movements, Dystonia |
OMIM:619317 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia |
OMIM:264070 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Spasticity, Inability to walk, Ataxia, Hepatic steatosis, Failure to thrive, Decreased li... |
ORPHA:70472 |
| Developmental And Epileptic Encephalopathy 78 |
|
Chorea, Spasticity, Cerebral palsy, Inability to walk, CNS hypomyelination |
OMIM:618557 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Leukodystrophy, Choreoathetosis, Intention ... |
OMIM:617964 |
| Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
| Huntington Disease-Like 3 |
|
Chorea, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Extrapyramidal dyskinesia, Pro... |
ORPHA:157946 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Difficulty walking, Ankle flexion contracture, Increased urinary porphobilinogen, L... |
ORPHA:100924 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Urocanic aciduria, Broad-based gait |
ORPHA:210128 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
| Huntington Disease-Like 3 |
|
Chorea, Urinary incontinence, Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal ... |
OMIM:604802 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Spastic dysarthria, Abnormal myelination, Hand tremor, Lower limb... |
ORPHA:401830 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... |
ORPHA:276435 |
| Developmental And Epileptic Encephalopathy 84 |
|
Chorea, Short palpebral fissure, Spasticity, Epicanthus, Blepharophimosis, Synophrys, Babinski si... |
OMIM:618792 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Small for gestational age, Limb dystonia, Torticollis, Choreoathetosis, Ataxia, Elevated circulat... |
OMIM:619054 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Gait ataxia, Chorea, Spasticity, Abnormal pyramidal sign, Inability to walk, Limb hypertonia, Abn... |
ORPHA:500180 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Hepatic fibrosis, Blepharospasm, Cirrhosis, Akinesia, Parkinsonism, Rigidity... |
ORPHA:48818 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Akinesia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressiv... |
ORPHA:98773 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Alternating Hemiplegia Of Childhood 2 |
|
Choreoathetosis, Episodic quadriplegia, Hemiplegia, Ataxia, Tetraplegia, Dystonia |
OMIM:614820 |
| Sydenham Chorea |
|
Chorea, Unsteady gait, Hemiballismus |
ORPHA:306731 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Peritonitis, Minimal change glomerulonephritis, Foamy urine, Diff... |
ORPHA:656 |
| Metachromatic Leukodystrophy |
|
Chorea, Urinary incontinence, Spastic tetraplegia, Gait disturbance, Ataxia, Babinski sign, Chole... |
OMIM:250100 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hepatomegaly, Dystonia |
OMIM:615924 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Leukodystrophy, Myoclonus, Ataxia, Failure to thrive, Tremor, CNS hypomyelination |
OMIM:616494 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Sneddon Syndrome |
|
Chorea, Hemiparesis, Nephropathy, Tremor |
ORPHA:820 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Ptos... |
OMIM:618049 |
| Friedreich Ataxia |
|
Gait ataxia, Chorea, Poor fine motor coordination, Spasticity, Gait imbalance, Urinary bladder sp... |
ORPHA:95 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Urinary incontinence, Spasticity, Shuffling gait, Dysdiadochokinesis, Akinesia, Rest... |
ORPHA:247234 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Leukodystrophy, Loss of ambulation, Tremor, Hepatomegaly, Thrombocyto... |
OMIM:615010 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Abnormal pyramidal sign, Falls, Spastic tetraplegia, Resting tremor, Parkinsonism, U... |
OMIM:617225 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Striatonigral Degeneration, Infantile |
|
Failure to thrive, Spasticity, Choreoathetosis, Dystonia |
OMIM:271930 |
| Acute Intermittent Porphyria |
|
Urinary incontinence, Somatic sensory dysfunction, Porphyrinuria, Proximal muscle weakness in low... |
ORPHA:79276 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia |
OMIM:619738 |
| Developmental And Epileptic Encephalopathy 40 |
|
Spasticity, Small for gestational age, Myoclonus, Choreoathetosis, Spastic tetraparesis, Lethargy |
OMIM:617065 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Spasticity, Hyperlysinuria, Tetraplegia, Leukodystrophy, Choreoathetosis, Failure to thrive, Clon... |
OMIM:616034 |
| Dystonia-Aphonia Syndrome |
|
Myoclonus, Gait disturbance, Macroglossia, Abnormal urinary odor, Unsteady gait |
ORPHA:412217 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
| Aceruloplasminemia |
|
Chorea, Anemia, Blepharospasm, Abnormality of extrapyramidal motor function, Torticollis, Ataxia,... |
OMIM:604290 |
| Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
| Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myoclonus, Babinski... |
ORPHA:282166 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Gait disturbance, Limb ataxia, Action myoclonus |
OMIM:616230 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Elevated hepatic transaminase |
ORPHA:94086 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Resting tremor, Akinesia, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ... |
OMIM:619911 |
| Spinocerebellar Ataxia 47 |
|
Chorea, Spasticity, Ataxia, Ptosis, Dysmetria |
OMIM:617931 |
| Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Akinesia, Nemaline bodies, Hypospadias, Arthrogry... |
OMIM:619334 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Microcornea |
ORPHA:231736 |
| Spinocerebellar Ataxia 1 |
|
Chorea, Spasticity, Paresthesia, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Trunc... |
OMIM:164400 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired vibration sensation in the lower limbs, Poor fine motor coordination, Spastic ataxia, Pr... |
ORPHA:137898 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper ... |
OMIM:180800 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Acute kidney injury, Stage 5 chronic kidney disease, Peritonitis, Minimal ... |
ORPHA:567548 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Hepatic failure, Rhabdomyolysis, Stage 5 chronic kidney disease, Po... |
ORPHA:157 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Babinsk... |
OMIM:609260 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Chorea, Delayed myelination, Upper limb spasticity, Myoclonus, Unsteady gait, Lower limb spastici... |
ORPHA:485350 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Dark yellow urine, Jaundice, Elevated hepati... |
ORPHA:30391 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Urinary incontinence, Chorea, Resting tremor, Parkinsonism, Titubation, Gait disturb... |
ORPHA:225147 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... |
ORPHA:98763 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Chorea, Athetosis, Dystonia, Spastic tetraplegia |
OMIM:619922 |
| Baker-Gordon Syndrome |
|
Inability to walk, Epicanthus, Choreoathetosis, Ataxia, Involuntary movements, Hyperkinetic movem... |
OMIM:618218 |
| Spinocerebellar Ataxia 21 |
|
Gait ataxia, Akinesia, Postural tremor, Parkinsonism, Abnormality of extrapyramidal motor functio... |
OMIM:607454 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy, Ataxia, Dysmetria, Loss of ambulation, Tremor, Lower limb spasticity, Dystonia |
OMIM:617916 |
| Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Splenomegaly |
ORPHA:98375 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Inability to walk, Demyelinating peripheral neuropathy, Gait disturb... |
ORPHA:101077 |
| Morm Syndrome |
|
Retinal atrophy, Hyperactivity, Cataract |
ORPHA:75858 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Spasticity, Inability to walk, Abnormal myelination, Babinski sign, Spastic paraplegia |
ORPHA:431329 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Chorea, Spasticity, Inability to walk, Dystonia |
OMIM:618917 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxi... |
OMIM:617145 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Elevated circulating creatine kinase concentration, Loss of ambulation, Tremor... |
OMIM:614018 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait |
OMIM:617917 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dystonia, Splenomegaly |
OMIM:612126 |
| Neuroferritinopathy |
|
Chorea, Blepharospasm, Resting tremor, Parkinsonism, Writer's cramp, Palatal tremor, Babinski sig... |
ORPHA:157846 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Progressive ga... |
OMIM:606002 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... |
ORPHA:391417 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
| Developmental And Epileptic Encephalopathy 29 |
|
Chorea, Spasticity, Blepharospasm, Limb dystonia, Failure to thrive, CNS hypomyelination |
OMIM:616339 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tremor, Segmental p... |
OMIM:607734 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic hemiplegia, Dystonia, Choreoathetosis, Episodic quadriplegia |
OMIM:104290 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Diffuse peripheral demyelination, Choreoathetosis, Gait disturbance,... |
ORPHA:206594 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Jaundice, Abnormal urinary color, Splenomegaly |
ORPHA:90033 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Spasticity, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, Ataxia, Babinski... |
ORPHA:225154 |
| Leigh Syndrome |
|
Choreoathetosis, Upper motor neuron dysfunction, Lacticaciduria, 3-Methylglutaconic aciduria, Spa... |
ORPHA:506 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Jaundice, Ataxia, Hepatosplenomegaly, Myopathy |
ORPHA:33574 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Inability to walk, Truncal ataxia, Elevated hepatic transaminase, Ataxia, Elevated circul... |
OMIM:615356 |
| Leigh Syndrome With Cardiomyopathy |
|
Chorea, Anemia, Spasticity, Renal tubular acidosis, Bilateral ptosis, Renal dysplasia, Abnormal r... |
ORPHA:70474 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract |
ORPHA:85288 |
| Myopathy, spheroid body |
|
Waddling gait, Tremor, Broad-based gait, Elevated circulating creatine kinase concentration |
OMIM:182920 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Choreoathetosis, Positive Romberg sign, Ataxia, Babinski sign, Dysmetria, Loss of amb... |
OMIM:618088 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor |
OMIM:615362 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Downslanted palpebral fissures, Spasticity, Limb hypertonia, Rigidity, Myoclonus, Abnormal myelin... |
ORPHA:442835 |
| Saccharopinuria |
|
Gait ataxia, Hyperlysinuria, Spastic diplegia, Citrullinuria, Abnormality of circulating enzyme l... |
ORPHA:3124 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Hematuria, Nephritis, Hemiplegia, Myositis, Proteinuria, Abnormality of the u... |
ORPHA:93552 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Delayed CNS myelination, Tremor, Ataxia |
OMIM:616421 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Chorea, Truncal ataxia, Elevated hepatic tran... |
ORPHA:369840 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Parox... |
ORPHA:53583 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Sudanophilic leukodystrophy, Inability to walk, Writer's cramp, Urinary ... |
OMIM:312080 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Elevated circulating creatine kinase concentratio... |
ORPHA:90117 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of ambulation, Tremor, ... |
ORPHA:521406 |
| Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Urinary incontinence, Spasticity, Progressive gait ataxia, Clumsiness, Leukodystrophy, Ba... |
ORPHA:309271 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apr... |
ORPHA:240103 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Spasticity, Tremor, Ataxia |
OMIM:300983 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Parap... |
OMIM:302800 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Chorea, Ataxia, Peripheral hypomyelination, Babinski sign, Peripheral demyelination |
OMIM:604168 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Axial muscle stiffness, Gait imbalance, Falls, Akinesia, Abnormal pyramidal sign, ... |
ORPHA:240071 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Urinary incontinence, 3-Methylglutaconic aciduria, Spasticity, Choreoathetosis, Long eyelashes, F... |
OMIM:617698 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| X-Linked Creatine Transporter Deficiency |
|
Chorea, Cachexia, Ataxia, Ptosis, Hypertonia, Athetosis, Dystonia |
ORPHA:52503 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Failure to thrive, Myoclonus, Tremor, Dystonia |
OMIM:619651 |
| Spinocerebellar Ataxia 42 |
|
Urinary incontinence, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Spastic at... |
OMIM:616795 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Ptosis, Tremor, Ataxia |
OMIM:618637 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Urinary incontinence, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Tr... |
OMIM:618877 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Ptosis, Dysm... |
OMIM:614831 |
| Carcinoma Of Esophagus |
|
Obesity, Weight loss |
ORPHA:70482 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color |
ORPHA:90036 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Hepatosplenomegaly, A... |
ORPHA:2590 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Rigidity, Leukodystrophy, Cerebral hypomyelination, Choreoathetosis, Atax... |
OMIM:608804 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:213200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Chorea, Decreased body weight, Inability to walk, Epicanthus, Progressive spasticity, Rigidity, A... |
OMIM:300260 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hepatic failure, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Cerebral hypomyelination, Choreoathetosis, Leukodystrop... |
OMIM:612438 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
| Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
| Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination, Babinski sign, Spastic paraplegia, Failure to thrive, Tremor, Difficult... |
ORPHA:477673 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Hepatic failure, Polycystic kidney dysplasia, Cystic renal dysplasi... |
ORPHA:228308 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Choreoathetosis, Pancreatitis, Failure to thrive, Thrombocytopenia, Hepatomegaly, Letharg... |
ORPHA:79312 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Akinesia, Hydronephrosis |
OMIM:607598 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Small for gestational age, Rigidity, Choreoathetosis, Ataxia, Trem... |
OMIM:261640 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia |
ORPHA:101075 |
| Systemic Lupus Erythematosus 17 |
|
Chorea, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Narrow palpebral fissure, Inability to walk, Waddling gait |
OMIM:616269 |
| Aniridia 2 |
|
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Paraparesis, Choreoathetosis, Ataxia, Thrombocytopenia, Tetraparesis, Hepatom... |
ORPHA:27 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Myoclonus, Choreoathetosis, Ataxia, Frequent falls, Unsteady gait |
OMIM:301020 |
| Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Elevated hepatic transaminase, Cholelithiasis, Abnormality of t... |
ORPHA:521219 |
| Early-Onset X-Linked Optic Atrophy |
|
Gait ataxia, Dysdiadochokinesis, Choreoathetosis, Babinski sign, Intention tremor |
ORPHA:98890 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Progressive spasticity, Leukodystrophy, Choreoathetosis, Babinski sign, Spastic paraplegia, Head ... |
OMIM:612233 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Spasticity, Inability to walk, Parkinsonism, Apraxia, Choreoathetosis, CNS demyelination, Spastic... |
OMIM:619653 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Spasticity, Dystonia |
OMIM:613970 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Chorea, Sparse eyebrow, Multicystic kidney dysplasia, Hemiparesis, Long palpebral fissure, Dyston... |
OMIM:618829 |
| Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Ataxia, Elevated circulating creatine kinase concentration, Increased urinary su... |
OMIM:272300 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Chorea, Downslanted palpebral fissures, Inability to walk, Epicanthus, Synophrys, Thin eyebrow, A... |
OMIM:617804 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spasticity, Spastic tetraplegia, Choreoathetosis, Ptosis, Failure to thrive, Dystonia |
OMIM:618238 |
| Allan-Herndon-Dudley Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Delayed myelination, Spastic tetraplegia, Limb... |
ORPHA:59 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Optic atrophy |
OMIM:619470 |
| Congenital Myopathy 9A |
|
Tongue fasciculations, Akinesia, EMG: myopathic abnormalities |
OMIM:618822 |
| Dopa-Responsive Dystonia |
|
Urinary incontinence, Generalized dystonia, Delayed myelination, Inability to walk, Parkinsonism,... |
ORPHA:255 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... |
OMIM:225200 |
| Mcleod Syndrome |
|
Chorea, Impaired vibration sensation at ankles, Elevated circulating alanine aminotransferase con... |
OMIM:300842 |
| Galactosemia |
|
Cirrhosis, Hepatic failure, Gait imbalance, Postural tremor, Abnormality of extrapyramidal motor ... |
ORPHA:352 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Gait ataxia, Chorea, Spasticity, Synophrys, Long eyelashes, Hypertonia, Involuntary movements, Th... |
OMIM:614961 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea, Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Myoclonus, Ataxia, Ptosis, Tremor |
OMIM:612016 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia |
ORPHA:101078 |
| Congenital Disorder Of Deglycosylation 1 |
|
Chorea, Chondroitin sulfate excretion in urine, 3-Methylglutaconic aciduria, Hepatic fibrosis, De... |
OMIM:615273 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Hereditary Methemoglobinemia |
|
Spasticity, Delayed myelination, Spastic tetraplegia, Small for gestational age, Limb dystonia, C... |
ORPHA:621 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Spasticity, Delayed myelination, Limb hypertonia, Choreoathetosis, Ataxia, Involuntary movements,... |
OMIM:615905 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Cerebral palsy, Small for gestational age, Rigidity, Oculogyric crisis, Ptosis, ... |
ORPHA:70594 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
| Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Dysdiadochokinesis, Post... |
OMIM:183090 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Myoclonus, Choreoathetosis, Episodic ataxia, Ptosis, Tremor, Lethargy,... |
OMIM:312170 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Myoclonus, Elevated circulating creatine kinase concentratio... |
OMIM:159950 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Leukodystrophy, Ataxia, Babinski sign, Dysmetria, Loss of ambulation... |
OMIM:607694 |
| Developmental And Epileptic Encephalopathy 110 |
|
Chorea, Ptosis, Spasticity, Pain insensitivity |
OMIM:620149 |
| Glutathionuria |
|
Urinary incontinence, Dysdiadochokinesis, Glutathionuria, Tremor, Action tremor |
OMIM:231950 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Abnormality of the liver, Hemiparesis, Ataxia, Tremor, Intention tremor |
OMIM:614307 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Bilateral ptosis, Oculogyric crisis, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Microvesicular hepatic steatosis, Myoclonus, Failure to thrive, Tetraparesis, Opisthotonu... |
OMIM:616672 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Lagophthalmos, Inability to walk, Oculomotor apraxia, Abnormal myelination, Elevated hepatic tran... |
ORPHA:404454 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Chorea, Spasticity, Exaggerated startle response, Inability to walk, Spastic tetraplegia, Failure... |
OMIM:617864 |
| Salt And Pepper Developmental Regression Syndrome |
|
Failure to thrive, Myoclonus, Choreoathetosis |
OMIM:609056 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking |
OMIM:613608 |
| Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Cirrhosis, Parkinsonism, Rigidity, Abnormality of extrapyramidal mo... |
OMIM:613280 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Gait disturba... |
ORPHA:352649 |
| Schimke X-Linked Mental Retardation Syndrome |
|
Spasticity, Choreoathetosis |
OMIM:312840 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Rigidity, Limb dystonia, Poor motor coordination, Ataxia, Tremor, Glutaric aciduria, Athe... |
ORPHA:25 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Neuronal Intranuclear Inclusion Disease |
|
Urinary incontinence, Somatic sensory dysfunction, Rigidity, Gait disturbance, Ataxia, Tremor |
OMIM:603472 |
| Crigler-Najjar Syndrome Type 1 |
|
Prolonged neonatal jaundice, Tremor, Abnormality of the liver, Biliary tract abnormality |
ORPHA:79234 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Spasticity, Choreoathetosis, Dystonia |
OMIM:614249 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Abnormal pyramidal sign, Gait imbalance, Urinary bladder sphincter d... |
ORPHA:64753 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Choreoathetosis, Spastic diplegia, Glomerular sclerosis |
OMIM:257970 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Limb hypertonia, Oculomotor apraxia... |
OMIM:617595 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Chorea, Spasticity, Dysdiadochokinesis, Babinski sign, Dysmetria, Hypertonia, Dyston... |
OMIM:610217 |
| 4H Leukodystrophy |
|
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Cerebr... |
ORPHA:289494 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Abnormal pyramidal sign, Cerebral palsy, Epicanthus, Choreoathetosis, Gait disturbanc... |
ORPHA:765 |
| Foxg1 Syndrome |
|
Spasticity, Delayed myelination, Decreased body weight, Inability to walk, Myoclonus, Choreoathet... |
ORPHA:561854 |
| Niemann-Pick Disease Type C |
|
Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Hepatosplenomegaly, Axial dystonia, Bon... |
ORPHA:646 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tetraplegia, Spastic diplegia, Clumsiness, Impaired tactile sensation, Abnormal CNS myelination, ... |
ORPHA:206443 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Chorea, Spasticity, Extrapyramidal dyskinesia, Limb hypertonia, Babinski sign, Clonus, Opisthoton... |
OMIM:612389 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia |
OMIM:617270 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Inability to walk, Ataxia, Failure to thrive, Tremor, Delayed CNS myelination, Hypertonia |
OMIM:619556 |
| Brain-Lung-Thyroid Syndrome |
|
Chorea, Vesicoureteral reflux, Falls, Involuntary movements, Apraxia, Clumsiness, Myoclonus, Chor... |
ORPHA:209905 |
| Nasu-Hakola Disease |
|
Chorea, Oculomotor apraxia, Spasticity, Acute leukemia |
ORPHA:2770 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Gait ataxia, Chorea, Hepatic failure, Spasticity, Demyelinating peripheral neuropathy, Abnormal r... |
ORPHA:255210 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Truncal ataxia, Difficulty walking, Hyperkinetic movements |
ORPHA:369847 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Spastic Paraplegia 86, Autosomal Recessive |
|
Inability to walk, Choreoathetosis, Ataxia, Babinski sign, Spastic paraplegia |
OMIM:619735 |
| D-Glyceric Aciduria |
|
Chorea, Spasticity, Hyperglycinuria, Myoclonus |
ORPHA:941 |
| Glutaric Acidemia I |
|
Delayed myelination, Spastic diplegia, Ketonuria, Rigidity, Choreoathetosis, Failure to thrive, G... |
OMIM:231670 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Cachexia, Failure to thrive in infancy |
OMIM:616801 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Progressive spasticity, Myoclonus, Choreoathetosis, Paraparesis, Ataxia, Spastic para... |
ORPHA:726 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Cirrhosis, Spasticity, Abnormal pyramidal sign, Limb dystonia, Myoclonus, Poor motor... |
ORPHA:363400 |
| Pandas |
|
Chorea, Enuresis, Clumsiness |
ORPHA:66624 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Leukodystrophy, Choreoathetosis, Pancreatitis, Progressive spastic quadri... |
ORPHA:431361 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Oculomotor apraxia, Choreoathetosis, Ataxia, Ptosis, Generalized dystonia, D... |
OMIM:245348 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Nephrotic syndrome, Gait disturbance, Nephropathy, Tremor, Hypertonia, Proteinuria |
ORPHA:1192 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Shuffling gait, Spastic gait, Spastic tetraplegia, Resting tremor, Parkinsonism, Apraxia, Choreoa... |
OMIM:300055 |
| Developmental And Epileptic Encephalopathy 74 |
|
Delayed CNS myelination, Choreoathetosis |
OMIM:618396 |
| Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Hyaloid vascular remnan... |
ORPHA:91495 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Spasticity, Inability to walk, Apraxia, Dysmetria, Tremor |
OMIM:617810 |
| Chromosome 18Q Deletion Syndrome |
|
Chorea, Downslanted palpebral fissures, Short palpebral fissure, Epicanthus, Blepharophimosis, Po... |
OMIM:601808 |
| Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babinski sign, Dysmetria, Tremo... |
OMIM:210000 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Impaired tactile sensation, Myoclonus, Ataxia, Tremor, Hypertonia, Upslanted palpebr... |
OMIM:619092 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration |
OMIM:193230 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
| Manganese Poisoning |
|
Akinesia, Postural tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Cogwhe... |
ORPHA:306682 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy, Dystonia |
OMIM:233910 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb dystonia, Clumsines... |
OMIM:617013 |
| Developmental And Epileptic Encephalopathy 1 |
|
Erratic myoclonus, Abnormal pyramidal sign, Choreoathetosis, Spastic tetraparesis, Delayed CNS my... |
OMIM:308350 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Choreoathetosis, Ataxia, Elevated circulating creatine kinase concentration, Frequent falls, Dyst... |
OMIM:618416 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Truncal ataxia, Dysmetria, Tremor, Dysdiadochokinesis |
OMIM:610185 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Leukodystrophy, Cerebral hy... |
OMIM:614381 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor, Degeneration of anterior horn cells |
ORPHA:65684 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Elevated circulating creatine kinase concentration, Dysmetria, Tremor, Unstea... |
OMIM:619405 |
| Oculopharyngodistal Myopathy 3 |
|
Ptosis, Tremor, Ataxia, Elevated circulating creatine kinase concentration |
OMIM:619473 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Akinesia, Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable res... |
ORPHA:411602 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
| Ddost-Cdg |
|
Nephrotic range proteinuria, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive,... |
ORPHA:300536 |
| Gm2 Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Red urine, Jaundice, Pink urine, Hepatomegaly, Cholelithiasis, Spl... |
OMIM:263700 |
| Cimdag Syndrome |
|
Chorea, Spasticity, Microvesicular hepatic steatosis, Ataxia, Hepatomegaly, Dystonia, Cholelithiasis |
OMIM:619273 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Titubation, Cerebral hypomyelination, Abnormal myelination, Ataxia, Dystonic g... |
ORPHA:280210 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
| Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Apraxia, Gait disturbance, Impaired p... |
ORPHA:3095 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Ritscher-Schinzel Syndrome 4 |
|
Chorea, Downslanted palpebral fissures, Ataxia, Athetosis, Micropenis |
OMIM:619435 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Bradykinesia |
ORPHA:306669 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Bradykinesia |
OMIM:300894 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonus, Choreoathetosis, Hyperkinetic movements, Dystonia |
OMIM:618497 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Chorea, Generalized dystonia, Spastic tetraplegia, Myoclonus, Pancytopenia, Ataxia, ... |
OMIM:618321 |
| Postencephalitic Parkinsonism |
|
Tremor by anatomical site, Abnormal pyramidal sign, Paresthesia, Akinesia, Resting tremor, Rigidi... |
ORPHA:97349 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Spasticity, Choreoathetosis, Failure to thrive in infancy, Hydronephrosis |
ORPHA:85285 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor |
ORPHA:99014 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, Horizontal eyebrow, Abnormal location of the eyebrow, Hemiballismus, Delayed myelination,... |
ORPHA:522077 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Choreoathetosis, Ataxia, Ptosis, Tremor, Dystonia |
OMIM:619422 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystoni... |
ORPHA:240085 |
| Choreoacanthocytosis |
|
Blepharospasm, Limb dystonia, Elevated circulating creatine kinase concentration, Self-mutilation... |
ORPHA:2388 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Peroxisome Biogenesis Disorder 5B |
|
Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Decreased liver function, Unsteady gait |
OMIM:614867 |
| Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Exaggerated startle response, Abnormal pyramidal sign, Paralysis, Spastic tetraparesis, H... |
OMIM:272750 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Retinal nonatt... |
OMIM:221900 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Poor fine motor coordination, Abnormality of the liver, Dysdiadochokinesis, Truncal ataxia, Rigid... |
ORPHA:309854 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hepatic failure, Anemia, Nephrotic syndrome, Myoclonus, Ataxia, Glomerular sclerosis, Elevated ci... |
OMIM:607426 |
| Dystonia 9 |
|
Abnormal pyramidal sign, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Dystonia |
OMIM:601042 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Choreoathetosis, Dystonia |
OMIM:614932 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Downslanted palpebral fissures, Elevated hepatic transaminase, Ataxia, Elevated circulating creat... |
OMIM:608799 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Inability to walk, Rigidity, Choreoathetosis, Hypertonia, CNS hypomyelination, Nephrolithiasis |
OMIM:620023 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Trisomy X |
|
Multicystic kidney dysplasia, Epicanthus, Renal hypoplasia/aplasia, Tremor, Upslanted palpebral f... |
ORPHA:3375 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Myoclonus, Slender build, Cerebral palsy |
OMIM:617600 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Ataxia, Hypertonia |
OMIM:617106 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Falls, Tremor by anatomical site, Parkinsonism, Rigidity,... |
ORPHA:99750 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy... |
ORPHA:96 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Spasticity, Decreased muscle mass, Blepharospasm, Abnormal pyramidal sign, ... |
OMIM:234200 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia, Spastic tetraplegia, Hypospadias, Mild proteinuria, Hypertonia, Renal insufficiency |
OMIM:619147 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| East Syndrome |
|
Inability to walk, Renal sodium wasting, Renal salt wasting, Increased circulating renin level, A... |
ORPHA:199343 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity, Resting tremor |
OMIM:616840 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Unsteady gait, Dystonia, B... |
OMIM:617435 |
| Sialidosis Type 2 |
|
Ataxia, Nephropathy, Tremor, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Ataxia, Reticulocytosis, Decreased hemoglobin concentration, Tremor, Renal insu... |
ORPHA:713 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Perry Syndrome |
|
Akinesia, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Bradykinesia |
OMIM:168605 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor |
ORPHA:1170 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Methylmalonic aciduria |
OMIM:615578 |
| Alternating Hemiplegia Of Childhood |
|
Chorea, Abnormal pyramidal sign, Rigidity, Oculomotor apraxia, Thin eyebrow, Choreoathetosis, Epi... |
ORPHA:2131 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Opisthotonus, Dystonia, Extrapyramidal dyskinesia |
OMIM:277470 |
| Rheumatic Fever |
|
Chorea, Hemiballismus, Nephrotic syndrome, Gait disturbance, Fasciculations |
ORPHA:3099 |
| Ataxia-Telangiectasia |
|
Spasticity, Elevated hepatic transaminase, Gait disturbance, Lymphopenia, Ataxia, Failure to thri... |
ORPHA:100 |
| Snijders Blok-Fisher Syndrome |
|
Spasticity, Epicanthus, Choreoathetosis, Delayed CNS myelination, Opisthotonus |
OMIM:618604 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:329284 |
| Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Weight loss, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus,... |
OMIM:137440 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Impaired distal vibration sensation, Spasticity, Urinary retention, Pseudob... |
OMIM:616586 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic tetraplegia, Cerebral hypomyelination, Choreoathetosis, Spastic paraplegia, Tremor, Delay... |
OMIM:612164 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Cln5 Disease |
|
Spasticity, Inability to walk, Dysdiadochokinesis, Truncal ataxia, Clumsiness, Ataxia, Poor gross... |
ORPHA:228360 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Downslanted palpebral fissures, Renal tubular acidosis, Neutropenia, Epicanthus, Small for gestat... |
OMIM:615471 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Tremor, Dystonia |
ORPHA:542310 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Steppage gait, Hypertonia, Dist... |
OMIM:616505 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Severe failure to thrive |
ORPHA:371364 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Spastic tetraplegia, Limb hypertonia, Ataxia, Dysmetria, Tremor, Delayed CNS myelination, Hyperto... |
OMIM:617710 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy |
ORPHA:702 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Choreoathetosis, Ptosis, Tremor, Horseshoe kidney, Dystonia |
OMIM:617664 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Spasticity, Abnormal pyramidal sign, Opisthotonus, Abnormality of ex... |
ORPHA:445038 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Delayed myelination, Limb dystonia, Choreoathetosis, Failure to thrive, Lower limb hypertonia |
ORPHA:319514 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Op... |
OMIM:120200 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Multiple joint contractures, Akinesia, Generalized amyotrophy, Arthrogry... |
ORPHA:994 |
| Cystathioninuria |
|
Tremor, Nephrolithiasis, Cystathioninuria |
ORPHA:212 |
| Wilson Disease |
|
Aminoaciduria, Limb dystonia, Hyperphosphaturia, Hepatocellular carcinoma, Hypoesthesia, Hepatic ... |
OMIM:277900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Abnormal pyramidal sign, Akinesia, Truncal ataxia, Choreoathetosis, Lower limb spasticity |
OMIM:618249 |
| Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Myoclonus, Gait disturbance, Inc... |
ORPHA:812 |
| Alexander Disease |
|
Chorea, Spasticity, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Ataxia, Ptosis, Failu... |
ORPHA:58 |
| Rett Syndrome, Congenital Variant |
|
Chorea, Spasticity, Delayed myelination, Apraxia, Athetosis, Dystonia |
OMIM:613454 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Neurogenic bladder, Hydroureter, Sideroblastic anemia, Ataxia, Ptosis, Trem... |
OMIM:222300 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Obesity, Broad-based... |
ORPHA:3077 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Hepatoerythropoietic Porphyria |
|
Paresthesia, Purple urine, Red urine, Red-brown urine, Splenomegaly |
ORPHA:95159 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
| Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
| Jaberi-Elahi Syndrome |
|
Gait ataxia, Sparse eyebrow, Inability to walk, Appendicular spasticity, Choreoathetosis, Failure... |
OMIM:617988 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper motor neuron dysfunction, Babinski sign, Action tremor, Hypertonia, Gait ataxia, Spasticity... |
ORPHA:99027 |
| Spondyloenchondrodysplasia |
|
Chorea, Spasticity, Hepatitis, Hematuria, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune h... |
ORPHA:1855 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Neuroleptic Malignant Syndrome |
|
Chorea, Urinary incontinence, Acute kidney injury, Oculogyric crisis, Elevated hepatic transamina... |
ORPHA:94093 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Incoordination, Ataxia, Tremor, Bradykinesia |
ORPHA:36387 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Developmental cataract, Impulsivity, Attention deficit hyperactivity disorder, Myo... |
OMIM:620141 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor, Hy... |
OMIM:618060 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Limb hypertonia, Lacticaciduria |
OMIM:618247 |
| Oculopharyngodistal Myopathy 4 |
|
Ptosis, Tremor, Postural tremor, Elevated circulating creatine kinase concentration |
OMIM:619790 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Postural tremor, Resting tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
| Joubert Syndrome With Hepatic Defect |
|
Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Oculomotor apraxia, Neopla... |
ORPHA:1454 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Torticollis, Choreoa... |
OMIM:608643 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Gait ataxia, Glomerulopathy, Postural tremor, Nephrotic syndrome, Myoclonus, Nephropathy, Thrombo... |
OMIM:254900 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Increased body mass index, Microphallus, Small for gestational age, Gait disturbance,... |
OMIM:300957 |
| Lymphangioleiomyomatosis |
|
Renal angiomyolipoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple renal cysts |
ORPHA:538 |
| Typhoid |
|
Ataxia, Tremor, Hypertonia, Hepatomegaly, Lethargy, Splenomegaly |
ORPHA:99745 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:29822 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Chorea, Tip-toe gait, Pollakisuria, Inability to walk, Elevated circulating creatine kinase conce... |
ORPHA:268 |
| Congenital Myopathy 12 |
|
Jaw contracture, Akinesia, Camptodactyly, Joint contracture of the hand |
OMIM:612540 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Dysmetria, Tremor, Difficulty walking |
ORPHA:529665 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired distal vibration sensation, Polyminimyoclonus, Impaired pain sensation, Impaired tandem ... |
OMIM:619574 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Methylmalonic Aciduria, Cbla Type |
|
Anemia, Ketonuria, Pancytopenia, Failure to thrive, Thrombocytopenia, Tremor, Hepatomegaly, Letha... |
OMIM:251100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, 3-Methylglutaconic aciduria, Spasticity, Opisthotonus, Myoclonus, Choreoathetosis, At... |
OMIM:616271 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Elevated hepatic transaminase, Large for gestational age, Increased hepatic glycogen ... |
ORPHA:263455 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
| Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
| Hyperekplexia 2 |
|
Astigmatism, Exaggerated startle response |
OMIM:614619 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Neurogenic bladder, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor, CNS... |
OMIM:618527 |
| Holoprosencephaly |
|
Chorea, Abnormality of the urinary system, Failure to thrive in infancy, Spasticity, Epicanthus, ... |
ORPHA:2162 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Flexion contracture, Akinesia |
OMIM:253290 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Ataxia, Elevated circulating creatine kinase concentration, Tremor... |
ORPHA:79095 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, T... |
OMIM:128100 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Spastic diplegia, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil a... |
OMIM:613179 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Hypoplasia of the musculature, Akinesia |
OMIM:225790 |
| Myopathy, Mitochondrial, And Ataxia |
|
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating ... |
OMIM:617675 |
| Developmental And Epileptic Encephalopathy 100 |
|
Gait ataxia, Short palpebral fissure, Chorea, Synophrys, Myoclonus, Choreoathetosis, Delayed CNS ... |
OMIM:619777 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Catastrophic Antiphospholipid Syndrome |
|
Chorea, Abnormality of the kidney, Coombs-positive hemolytic anemia, Microangiopathic hemolytic a... |
ORPHA:464343 |
| Congenital Erythropoietic Porphyria |
|
Porphyrinuria, Purple urine, Paresthesia, Red-brown urine, Increased urinary porphobilinogen, Spl... |
ORPHA:79277 |
| Silver-Russell Syndrome |
|
Cachexia, Failure to thrive in infancy, Obesity |
ORPHA:813 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Myoclonus, Abnormal myelination, Hypertonia |
ORPHA:289266 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Blepharospasm, Ataxia, Tremor |
OMIM:607876 |
| Triosephosphate Isomerase Deficiency |
|
Spasticity, Hemolytic anemia, Normocytic anemia, Jaundice, Failure to thrive, Cholecystitis, Chro... |
OMIM:615512 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Biliary cirrhosis, Hepatomegaly, Splenomegaly, Congenital hepatic fibrosis, Hepatic fibrosis, Ele... |
OMIM:619534 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anem... |
OMIM:274150 |
| Hyperlysinemia |
|
Hyperlysinuria, Tip-toe gait, Neck hypertonia, Spastic diplegia, Clumsiness, Thin eyebrow, Poor m... |
ORPHA:2203 |
| Non-Functioning Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Tremor, Vocal co... |
ORPHA:94080 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Apraxia, Babinski sign,... |
ORPHA:52368 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
| Supranuclear Palsy, Progressive, 2 |
|
Retrocollis, Gait imbalance, Falls, Akinesia, Postural tremor, Parkinsonism, Eyelid apraxia, Rigi... |
OMIM:609454 |
| Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Megaloblastic anemia, Neutropenia, Cystathioni... |
OMIM:277400 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Epicanthus, Truncal titubation, Dysme... |
OMIM:618056 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Dysdiadochokinesis, Inability to walk, Myoclonus, Ch... |
OMIM:208900 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Spasticity, Epicanthus, Synophrys, Oculomotor apraxia, Choreoathetosis, Myoclonus, Ataxia, Spasti... |
OMIM:614969 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Fasciculations, Tremor, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Somatic sensory dysfunction, Tip-toe gait, Inability to walk, Abnormal peri... |
ORPHA:466768 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Impaired vibration sensation in the lower limbs, Urinary incontinence, Abnormal pyramidal sign, P... |
ORPHA:447753 |
| Hsd10 Disease, Infantile Type |
|
Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Spa... |
ORPHA:391428 |
| Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Weight loss, Parkinsonism |
ORPHA:178509 |
| Tetanus |
|
Rigidity, Elevated urinary epinephrine, Elevated circulating creatine kinase concentration, Tremo... |
ORPHA:3299 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Spasticity, Choreoathetosis |
OMIM:308950 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Akinesia, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Hepatomegaly, ... |
OMIM:608013 |
| Joubert Syndrome With Renal Defect |
|
Oculomotor apraxia, Gait disturbance, Ataxia, Ptosis, Nephropathy, Tremor, Renal insufficiency, H... |
ORPHA:220497 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Proximal tubulopathy, Hepatic fibrosis, Nephrotic syndrome, Elevated hepatic transaminase, Ataxia... |
OMIM:212065 |
| Parkinson Disease 20, Early-Onset |
|
Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Short stepped shuffling gait, Gait distur... |
OMIM:615530 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Cachexia, Obesity |
ORPHA:85293 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Cirrhosis, Spasticity, Glycosuria, Babinski sign, Failure to thrive, Tremor, Delayed CNS myelinat... |
OMIM:616539 |
| Hodgkin Lymphoma |
|
Weight loss |
ORPHA:98293 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Short palpebral fissure, Enuresis nocturna, Epicanthus, Hemidystonia, Torticollis, Tremor, Upslan... |
OMIM:619680 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Poor fine motor coordination, Paresthesia, Tip-toe gait, Inability to walk, Ptosis, Tremor, Diffi... |
ORPHA:99956 |
| Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
| Brucellosis |
|
Chorea, Leukopenia, Anemia, Abnormality of the liver, Weight loss, Small for gestational age, Liv... |
ORPHA:1304 |
| Episodic Ataxia Type 1 |
|
Tip-toe gait, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia |
ORPHA:37612 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Gait ataxia, Abnormality of the liver, Resting tremor, Rigidity, Abnormality of extrapyramidal mo... |
ORPHA:254892 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Spasticity, Hemiparesis, Ataxia, Paraplegia, Tremor |
OMIM:105210 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Short stepped shuffling gait, Tremor, Dy... |
OMIM:168600 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Failure to thrive, Tremor, Hepatomegaly, Lethargy, Splenomegaly |
OMIM:201100 |
| Adult-Onset Dystonia-Parkinsonism |
|
Abnormal circulating creatine kinase concentration, Spasticity, Rigidity, Eyelid apraxia, Clumsin... |
ORPHA:199351 |
| Lesch-Nyhan Syndrome |
|
Spasticity, Megaloblastic anemia, Abnormality of extrapyramidal motor function, Choreoathetosis, ... |
OMIM:300322 |
| Multiple System Atrophy 1, Susceptibility To |
|
Urinary incontinence, Parkinsonism, Rigidity, Urinary urgency, Ataxia, Babinski sign, Ptosis, Tre... |
OMIM:146500 |
| Whipple Disease |
|
Cachexia |
ORPHA:3452 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Blepharophimosis, Ptosis, Downslanted palpebral fissures, Abnormal myelination |
OMIM:617333 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Optic disc pallor, Optic atrophy |
OMIM:609541 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Supranuclear Palsy, Progressive, 1 |
|
Retrocollis, Gait imbalance, Falls, Akinesia, Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Bra... |
OMIM:601104 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Tay-Sachs Disease |
|
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Inability to walk, Prog... |
ORPHA:845 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Delayed myelination, Gait imbalance, Myoclonus, Ataxia, Tremor, Obesity, Broad-based gait |
ORPHA:98794 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
| Cockayne Syndrome Type 1 |
|
Conjunctivitis, Anemia, Elevated hepatic transaminase, Gait disturbance, Ataxia, Failure to thriv... |
ORPHA:90321 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Optic disc pallor, Optic atrophy |
ORPHA:320406 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Conjunctivitis, Spasticity, Entropion, Choreoathetosis, Ataxia, Ectropion, Distal sensory impairment |
OMIM:278700 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
| Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Metachromatic Leukodystrophy |
|
Urinary incontinence, Tip-toe gait, Progressive spasticity, Gait disturbance, Incoordination, Ata... |
ORPHA:512 |
| Arthrogryposis Multiplex Congenita 5 |
|
Flexion contracture, Akinesia, Elbow flexion contracture, Camptodactyly, Medullary nephrocalcinos... |
OMIM:618947 |
| Primary Sjögren Syndrome |
|
Chorea, Somatic sensory dysfunction, Tubulointerstitial nephritis, Biliary cirrhosis, Decreased p... |
ORPHA:289390 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Rigidity, Tremor, Unsteady gait, Dystonia, Bradykinesia |
ORPHA:683 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Gait disturbance, Ataxia, Giant neutrophil granules, Tremor, Hemoph... |
OMIM:214500 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Spasticity, Entropion, Leukodystrophy, Choreoathetosis, Ataxia, Babinski sign, Sc... |
OMIM:278800 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Delayed myelination, Spastic tetraplegia, Limb hypertonia, Limb dystonia, Ataxia, Dysmetria, Trem... |
ORPHA:572798 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Sézary Syndrome |
|
Tremor, Ectropion, Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology |
ORPHA:3162 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic steatosis, Tre... |
ORPHA:247585 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Parkinsonism, Rigidity, Limb dystonia, Abnormality of extrapyramidal mo... |
ORPHA:157850 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Gait ataxia, Limb hypertonia, Inability to walk, Choreoathetosis, Ataxia, Delayed CNS myelination... |
OMIM:619580 |
| Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Choreoathetosis, Almond-shaped palpebral fissure, Diffuse mesangi... |
OMIM:619603 |
| O'Sullivan-Mcleod Syndrome |
|
Somatic sensory dysfunction, Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Gabriele-De Vries Syndrome |
|
Downslanted palpebral fissures, Sparse eyebrow, Tip-toe gait, Epiblepharon, Ptosis, Waddling gait... |
OMIM:617557 |
| 12Q14 Microdeletion Syndrome |
|
Synophrys, Ectopic kidney, Failure to thrive, Tremor, Horseshoe kidney, Renal hypoplasia, Abnorma... |
ORPHA:94063 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Spasticity, Spastic diplegia, Choreoathetosis, Proteinuria, Renal insufficiency |
ORPHA:2715 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Spasticity, Entropion, Choreoathetosis, Keratoconjunctivitis sicca, Ataxia, Ectro... |
OMIM:278730 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
3-Methylglutaconic aciduria, Myoclonus, Choreoathetosis, Elevated hepatic transaminase, Hepatic s... |
ORPHA:17 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent cornea... |
OMIM:256800 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa... |
ORPHA:276621 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| African Trypanosomiasis |
|
Urinary incontinence, Somatic sensory dysfunction, Paresthesia, Akinesia, Hemiparesis, Jaundice, ... |
ORPHA:3385 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the... |
OMIM:609049 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
3-Methylglutaconic aciduria, Small for gestational age, Ataxia, Failure to thrive, Hypospadias, T... |
OMIM:614052 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Ptosis, Tremor, Hepatomegaly, Clonus |
OMIM:619424 |
| Kallmann Syndrome |
|
Renal agenesis, Hypoplasia of penis, Gait disturbance, Ataxia, Ptosis, Paraplegia, Tremor, Obesit... |
ORPHA:478 |
| Dpagt1-Cdg |
|
Flexion contracture, Akinesia, Inability to walk, Elevated hepatic transaminase, Camptodactyly, A... |
ORPHA:86309 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Failure to thrive in infancy |
ORPHA:37042 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract |
ORPHA:2714 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Japanese Encephalitis |
|
Opisthotonus, Respiratory paralysis, Paucity of anterior horn motor neurons, Abnormality of extra... |
ORPHA:79139 |
| Monosomy 18Q |
|
Downslanted palpebral fissures, Epicanthus, Poor coordination, Abnormal myelination, Choreoatheto... |
ORPHA:1600 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Peters anomal... |
OMIM:614643 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Choreoathetosis, Failure to thrive, Paroxysmal dyskinesia, Obesity,... |
ORPHA:261197 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal pyramidal sign, Tip-toe gait, Delayed myelination, Ataxia, Lacticaciduria, Failure to th... |
ORPHA:3008 |
| Nmda Receptor Encephalitis |
|
Chorea, Rigidity, Oculogyric crisis, Choreoathetosis, Myoclonus, Involuntary movements, Opisthoto... |
ORPHA:217253 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Spasticity, Renal dysplasia, Epicanthus, Bladder trabeculation, Choreoathe... |
OMIM:614080 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Weight loss, Renal cell carcinoma, Retinal capillary hemangioma, Elevated urinary epinephrine, He... |
ORPHA:29072 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor, Weight loss |
OMIM:613239 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:800 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Spasticity, Anemia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Leukod... |
OMIM:612199 |
| Aicardi-Goutières Syndrome |
|
Hemiplegia/hemiparesis, Elevated hepatic transaminase, Hepatosplenomegaly, Difficulty walking, Hy... |
ORPHA:51 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Inability to walk, Elevated hepatic transaminase, Hepatosplenomegaly... |
ORPHA:167 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy, Retinal dysplasia, Cataract, Retinal detachment |
OMIM:253800 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Menkes Disease |
|
Chorea, Spasticity, Bladder diverticulum, Hypertonia, Prolonged neonatal jaundice |
ORPHA:565 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Early Infantile Epileptic Encephalopathy |
|
Spasticity, Delayed myelination, Renal dysplasia, Myoclonus, Choreoathetosis, Episodic ataxia, Fa... |
ORPHA:1934 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy |
OMIM:616881 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617301 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss, Bilateral ptosis, Ataxia, Elevated circulating creatine kinase concentration, Ptosis... |
OMIM:164310 |
| Cockayne Syndrome Type 3 |
|
Urinary retention, Neurogenic bladder, Demyelinating peripheral neuropathy, Hydroureter, Abnormal... |
ORPHA:90324 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Listeriosis |
|
Conjunctivitis, Somatic sensory dysfunction, Hepatic granulomatosis, Acute kidney injury, Liver a... |
ORPHA:533 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
| Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
| Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
| Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Downslanted palpebral fissures, Multicystic kidney dysplasia, Abnormality of th... |
ORPHA:2750 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Jaundice, Failure to thrive, Tremor, Hypertonia, Clonus, 3-Methylglu... |
OMIM:617248 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Spasticity, Microvesicular hepatic steatosis, Ketonuria, Truncal ataxia, Small for gestational ag... |
OMIM:220111 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Abnormal circulating neopterin concentration, Ab... |
ORPHA:1578 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Wilson Disease |
|
Failure to thrive, Weight loss, Increased body weight |
ORPHA:905 |
| Cockayne Syndrome |
|
Cachexia |
ORPHA:191 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:99819 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
| Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Ect... |
ORPHA:649 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Scorpion Envenomation |
|
Paresthesia, Ketonuria, Acute kidney injury, Glycosuria, Myoclonus, Hemifacial spasm, Ataxia, Ele... |
ORPHA:466677 |
| Thyrotoxic Periodic Paralysis |
|
Weight loss, Urinary retention, Respiratory paralysis, Paralysis, Mildly elevated creatine kinase... |
ORPHA:79102 |
| Degcags Syndrome |
|
Abnormal renal cortex morphology, Synophrys, Abnormal myelination, Hepatosplenomegaly, Abnormal e... |
OMIM:619488 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Camurati-Engelmann Disease |
|
Slender build, Cachexia |
ORPHA:1328 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Hand tremor, Agitation |
ORPHA:424 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia, Optic atrophy |
ORPHA:521426 |
| Porphyria, Acute Intermittent |
|
Urinary incontinence, Paresthesia, Urinary retention, Respiratory paralysis, Dysuria, Paralysis, ... |
OMIM:176000 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia |
ORPHA:2072 |
| Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617527 |
| Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract, Dysph... |
ORPHA:637 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response |
OMIM:615574 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Weight loss |
ORPHA:354 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Tremor, Hypertonia |
OMIM:176500 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Neuroocular Syndrome |
|
Brushfield spots, Lens coloboma, Microcornea, Remnants of the hyaloid vascular system, Peters ano... |
OMIM:619539 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Polymyositis |
|
Weight loss |
ORPHA:732 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Oculomotor apraxia, Abnormal myelination |
ORPHA:67045 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Weight loss |
OMIM:619487 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Weight loss |
ORPHA:465508 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Adrenocortical Carcinoma |
|
Weight loss, Increased body weight |
ORPHA:1501 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss |
ORPHA:2126 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:212750 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:183 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss |
ORPHA:370348 |
| Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
| Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
| Thymoma |
|
Weight loss |
ORPHA:99867 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:199299 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Weight loss, Increased body weight |
ORPHA:2298 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
| Microphthalmia, Syndromic 2 |
|
Developmental cataract, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Reti... |
OMIM:300166 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
| Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
| Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
| Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
| Caroli Disease |
|
Weight loss |
ORPHA:53035 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Q Fever |
|
Weight loss |
ORPHA:781 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
| Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
| Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
| Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
| Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
| Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100077 |
| Mucolipidosis Type Ii |
|
Weight loss |
ORPHA:576 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
| Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Optic disc pallor, Dystonia, Dysphagia |
ORPHA:438213 |
| Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
| Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
| Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
| Ppoma |
|
Weight loss |
ORPHA:97278 |
| Aicardi-Goutieres Syndrome 7 |
|
Weight loss |
OMIM:615846 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Attention deficit hyperactivity disorder, Dysphagia |
OMIM:619522 |
| Hepatocellular Carcinoma |
|
Weight loss |
ORPHA:88673 |
| Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
| Grfoma |
|
Weight loss |
ORPHA:97261 |
| Fanconi Anemia |
|
Weight loss |
ORPHA:84 |
| Vipoma |
|
Weight loss |
ORPHA:97282 |
| Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
| Glucagonoma |
|
Weight loss |
ORPHA:97280 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss |
OMIM:219800 |
| Orofaciodigital Syndrome Type 14 |
|
Upslanted palpebral fissure, Abnormal myelination, Telecanthus, Epispadias |
ORPHA:434179 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
| Pulmonary Alveolar Microlithiasis |
|
Weight loss |
ORPHA:60025 |
| Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
| Behçet Disease |
|
Weight loss |
ORPHA:117 |
| Dermatomyositis |
|
Weight loss |
ORPHA:221 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Nocardiosis |
|
Weight loss |
ORPHA:31204 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Weight loss |
ORPHA:79078 |
| Multiple Endocrine Neoplasia Type 1 |
|
Weight loss |
ORPHA:652 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:90794 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
| Sarcoidosis, Susceptibility To, 1 |
|
Weight loss |
OMIM:181000 |
| Kikuchi-Fujimoto Disease |
|
Weight loss |
ORPHA:50918 |
| Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Truncal obesity, Abdominal obesity, Weight loss, Increased body weight |
ORPHA:99889 |
| Sarcoidosis |
|
Weight loss |
ORPHA:797 |
| Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss |
ORPHA:91500 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
