| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Abnormal urinary color, Skeletal muscle atrophy, Tip-toe gait, Fal... |
ORPHA:98895 |
| Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Functional abnormality of the bladder, Ba... |
ORPHA:488594 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| 3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Abnormalit... |
OMIM:258501 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesi... |
ORPHA:71277 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Urinary incontinence, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Urinary incontinence, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... |
OMIM:213600 |
| Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Delayed CNS myelination, Chorea, Methylmalonic aciduria, Choreoathetosis, Athetosis, Failure to t... |
OMIM:309541 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Clumsiness, Focal dystonia, Gait... |
ORPHA:216873 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia |
OMIM:617018 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Dystonia, Involuntary movements, Paroxysmal dyskinesia |
OMIM:611031 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Urinary incontinence, Rigidity, Chorea, Dysmetr... |
OMIM:607136 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss,... |
ORPHA:98756 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Elevated hepa... |
ORPHA:99845 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis, Green urine |
OMIM:614156 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance |
OMIM:118700 |
| Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Jaundice, Biliary tract abnormality, Abnormality of the liver |
ORPHA:234 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Abnormality o... |
OMIM:617672 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Chorea, Poor coordination, Falls, Dystonia, Paroxysmal dyskinesia |
OMIM:619150 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Microcytic anemia, Chorea, Babinski sign, Delayed myelination, Choreoathetosis, H... |
OMIM:618451 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
| Paroxysmal Kinesigenic Dyskinesia |
|
Writer's cramp, Involuntary movements, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
| Spinocerebellar Ataxia 50 |
|
Ptosis, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase, Distal sensory impairment |
OMIM:614369 |
| Glycogen Storage Disease V |
|
Dark urine, Exercise-induced rhabdomyolysis, Myoglobinuria, Rhabdomyolysis |
OMIM:232600 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
| Developmental And Epileptic Encephalopathy 17 |
|
Delayed CNS myelination, Inability to walk, Chorea, Athetosis, Dystonia |
OMIM:615473 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Decreased number of... |
OMIM:208920 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Thrombocytopenia, Neutropenia,... |
ORPHA:289916 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Spastic paraplegia, Lower limb amyotrophy, Babinski sign, Dysmetri... |
OMIM:610357 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Clonus, Chorea, Delayed myelination, Spastic tetraplegia |
OMIM:613811 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Focal dystonia, Fascicul... |
ORPHA:309169 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Choreoathetosis, 3-Methylglutaconic aciduria, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Red urine, Increased urinary ... |
OMIM:618892 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Lower limb spasticity, Ataxia, Urinary incontinence, Parkinsonism, Babinski sign, Impaired vibrat... |
OMIM:604187 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubul... |
ORPHA:228302 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Abnormal eyelid morphology, Tremor, Babinski sign, Impaire... |
ORPHA:251282 |
| Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Paroxysmal dyskinesia |
ORPHA:31709 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... |
ORPHA:368 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
| Spinal Muscular Atrophy, Jokela Type |
|
Elevated circulating creatine kinase concentration, Tremor, Distal sensory impairment, Fasciculat... |
OMIM:615048 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Urinary incontinence, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, CNS hypomye... |
ORPHA:300605 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Epicanthus, Atax... |
OMIM:615673 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia |
ORPHA:217012 |
| Hereditary Coproporphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Porphyrinuria, Increased urinary porphobilin... |
ORPHA:79273 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas... |
ORPHA:401820 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine, Jaundice |
OMIM:301015 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... |
ORPHA:13 |
| Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria |
OMIM:603218 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia |
OMIM:618501 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Inability to walk, Chorea, Dystonia |
OMIM:618760 |
| Myoclonus, Intractable, Neonatal |
|
Delayed CNS myelination, Chorea, Athetosis, Myoclonus, Ptosis |
OMIM:617235 |
| Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
| Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involu... |
ORPHA:454887 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Delayed CNS myelination, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dyston... |
OMIM:617493 |
| Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Birk-Aharoni Syndrome |
|
Duplicated collecting system, Macrocytic anemia, Inability to walk, Chorea, Spastic tetraplegia, ... |
OMIM:620071 |
| Hartnup Disease |
|
Abnormal urinary color, Ataxia, Neutral hyperaminoaciduria |
ORPHA:2116 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Ataxia, Elevated circulating creatine kinase concentration, Tre... |
OMIM:618387 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Progressive ex... |
ORPHA:382 |
| X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
| Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H... |
ORPHA:238455 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... |
OMIM:619725 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Ptosis, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation... |
OMIM:607483 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Huntington Disease |
|
Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clum... |
ORPHA:399 |
| Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
| Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea, Gait disturbance |
OMIM:607674 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Blepharospasm, Atheto... |
OMIM:617282 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Athetosis |
OMIM:615483 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Red-brown urine, Myopathy, Myoglobin... |
ORPHA:228305 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Dystonia, Oculomotor aprax... |
ORPHA:251347 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Delayed myelination, Hypertonia, Difficul... |
ORPHA:79097 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmetria, Bradykinesia, Progre... |
ORPHA:98755 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... |
OMIM:606777 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Involuntary movements, Parkinsonism, Writer's cramp, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Nephrotic syndrome, Abnormal myelination, Progressive spastic... |
ORPHA:401835 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Epicanthus, Failure to thrive, Ataxia |
OMIM:618951 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasti... |
OMIM:614254 |
| Morm Syndrome |
|
Cataract, Hyperactivity, Retinal atrophy, Aggressive behavior |
ORPHA:75858 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis |
OMIM:238700 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Hepatic bridging fibrosis, Splenomegaly, Limb atax... |
OMIM:616719 |
| Huntington Disease-Like 3 |
|
Ataxia, Urinary incontinence, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extr... |
OMIM:604802 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Delayed CNS myelination, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Chore... |
OMIM:617964 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
| Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
| Gordon Holmes Syndrome |
|
Chorea, Ataxia |
OMIM:212840 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Renal cy... |
ORPHA:79303 |
| Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni... |
ORPHA:508093 |
| Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Hepatomegaly |
ORPHA:56425 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
| Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Inability to walk, Chorea, CNS hypomyelination, Spasticity |
OMIM:618557 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Inability to walk, Chorea, Decreased liver function, Spasticity, Fa... |
ORPHA:70472 |
| Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Delayed myelination, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Ankle flexion contracture, Increased urinary porphobilinogen, Difficulty walking, Limb muscle wea... |
ORPHA:100924 |
| Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:619317 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Urinary incontinence, Tremor, Spastic paraplegia, Impaired vibrati... |
OMIM:600363 |
| Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Chorea, Abnormal pyrami... |
ORPHA:157946 |
| Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia |
OMIM:264070 |
| Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Delayed CNS myelination, Epicanthus, Highly arched eyebrow, Sparse eyebrow, ... |
OMIM:618004 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Abnormal pyramidal sign, Gait ataxia, Abnorma... |
ORPHA:500180 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Impaired distal vi... |
ORPHA:276435 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Elevated circulating creatine kinase concentration, Small for gestational ag... |
OMIM:619054 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Urocanic aciduria, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
| Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
| Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... |
OMIM:309300 |
| Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... |
ORPHA:401830 |
| Dystonia-Aphonia Syndrome |
|
Unsteady gait, Macroglossia, Abnormal urinary odor, Gait disturbance, Myoclonus |
ORPHA:412217 |
| Sydenham Chorea |
|
Chorea, Unsteady gait, Hemiballismus |
ORPHA:306731 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... |
OMIM:618049 |
| Aceruloplasminemia |
|
Refractory anemia, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, ... |
ORPHA:48818 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Developmental And Epileptic Encephalopathy 84 |
|
Delayed CNS myelination, Epicanthus, Chorea, Babinski sign, Synophrys, Opisthotonus, Dystonia, Bl... |
OMIM:618792 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia |
OMIM:614820 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Sneddon Syndrome |
|
Tremor, Nephropathy, Chorea, Hemiparesis |
ORPHA:820 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
| Acute Intermittent Porphyria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Somatic sensory dysfunc... |
ORPHA:79276 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, Failure to thrive |
OMIM:616494 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
| Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Metachromatic Leukodystrophy |
|
Ataxia, Urinary incontinence, Chorea, Babinski sign, Spastic tetraplegia, Tetraplegia, Gallbladde... |
OMIM:250100 |
| Friedreich Ataxia |
|
Inability to walk, Chorea, Babinski sign, Impaired proprioception, Dysmetria, Gait ataxia, Limb a... |
ORPHA:95 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Rigidity, Babinski sign, Ga... |
ORPHA:247234 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Choreoathetosis, Familial Inverted |
|
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Obesity, Limb dystonia |
OMIM:620270 |
| Striatonigral Degeneration, Infantile |
|
Choreoathetosis, Spasticity, Failure to thrive, Dystonia |
OMIM:271930 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Free... |
OMIM:619911 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Tremor, Rigidity, Splenomegaly, Leukodystrophy, Dystonia, Loss of... |
OMIM:615010 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus |
OMIM:616230 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Tremor, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... |
OMIM:604290 |
| Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Distal sensory imp... |
OMIM:609260 |
| Spinocerebellar Ataxia 47 |
|
Ataxia, Chorea, Dysmetria, Spasticity, Ptosis |
OMIM:617931 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color |
ORPHA:90037 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Elevated hepatic transaminase |
ORPHA:94086 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Unsteady gait, Delayed myelination, Progressive cerebellar ataxia,... |
ORPHA:485350 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Dysmyelinating leukodystrophy, Babinski s... |
ORPHA:137898 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
| Neurodevelopmental Disorder With Dystonia And Seizures |
|
Athetosis, Chorea, Spastic tetraplegia, Dystonia |
OMIM:619922 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Akinesia, Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogry... |
OMIM:619334 |
| Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... |
OMIM:164400 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit... |
ORPHA:157 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:567548 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Abnormal myelination, Spasticity |
ORPHA:431329 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hyperactivity, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity disorder, Motor... |
OMIM:619927 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Upper limb postural tremor, Segmental per... |
OMIM:180800 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation |
OMIM:617916 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Urinary incontinence, Chorea, Babinski sign, Titubation, Gait ataxi... |
ORPHA:225147 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... |
OMIM:607454 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem g... |
OMIM:300423 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Dystonia, Spasticity |
OMIM:618917 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
| Baker-Gordon Syndrome |
|
Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movem... |
OMIM:618218 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Conjunctival telangiectasia, Dystonia, Elevated circulating creatine kinase concentration, Tremor... |
OMIM:606002 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia |
ORPHA:79137 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathe... |
ORPHA:225154 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Developmental And Epileptic Encephalopathy 29 |
|
Chorea, CNS hypomyelination, Blepharospasm, Limb dystonia, Spasticity, Failure to thrive |
OMIM:616339 |
| Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Dystonia, Episodic hemiplegia, Choreoathetosis |
OMIM:104290 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina... |
ORPHA:391417 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Symmetric peripheral demyelination, Tremor, Demyelinating motor neur... |
ORPHA:206594 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Elevated circ... |
OMIM:615356 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Delayed CNS myelination, Spasticity, Ataxia |
OMIM:300983 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Abnormal urinary color, Jaundice |
ORPHA:90033 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Babinski sign, Dysmetria, Choreoathetosis, Positive Romberg sign, Dystonia, Loss of ambul... |
OMIM:618088 |
| Leigh Syndrome |
|
Chorea, Choreoathetosis, Complex organic aciduria, Leukodystrophy, Neutropenia, Ataxia, Renal tub... |
ORPHA:506 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ptosis, Abnormality of coordination, Ataxia, Involuntary movements, Tremor, Rigidity, Unsteady ga... |
ORPHA:442835 |
| 3-Methylglutaconic Aciduria, Type Ix |
|
Clonus, Urinary incontinence, Choreoathetosis, 3-Methylglutaric aciduria, Hypertonia, 3-Methylglu... |
OMIM:617698 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Tremor, ... |
OMIM:312080 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormalit... |
ORPHA:93552 |
| Saccharopinuria |
|
Citrullinuria, Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia, Cystinuria, Hype... |
ORPHA:3124 |
| Basal Ganglia Calcification, Idiopathic, 6 |
|
Choreoathetosis, Involuntary movements, Parkinsonism |
OMIM:616413 |
| Glutamate-Cysteine Ligase Deficiency |
|
Ataxia, Jaundice, Hepatosplenomegaly, Myopathy, Aminoaciduria |
ORPHA:33574 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Elevated hepatic transaminase, Chorea, Abnormal circulating creatine... |
ORPHA:369840 |
| X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia, Ptosis |
ORPHA:52503 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Failure to thrive, Myoclonus, Dystonia |
OMIM:619651 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ankle clonus, Bradykin... |
ORPHA:521406 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Elevated circulating creatine kinase concentration, Tremor, Inabilit... |
ORPHA:90117 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Chorea, Babinski sign, Peripheral hypomyelination, Peripheral demyelination |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Incoordination, Tremor, Paraparesis, Babi... |
OMIM:302800 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowed slur... |
ORPHA:240071 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Epicanthus, Ataxia, Hypospadias, Rigidity, Inability t... |
OMIM:300260 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Babinski sign, Abnormal pyramidal sign, Uns... |
OMIM:616795 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Head tit... |
OMIM:618877 |
| Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Urinary incontinence, Chorea, Babinski sign, Neoplasm of the gallbladder, Clumsiness, P... |
ORPHA:309271 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Ptosis |
OMIM:618637 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... |
ORPHA:477673 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
| Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadocho... |
ORPHA:254881 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Dystonia, Ataxia, Rigidity, Head titubation, Demyelinating motor neuropathy, Babinski sign, Chore... |
OMIM:608804 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Eyelid myoclonu... |
ORPHA:2590 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor apraxia, Cerebral... |
OMIM:612438 |
| Mitochondrial Dna Depletion Syndrome 17 |
|
Chorea, Hepatic failure, Hemiballismus, Spastic tetraparesis |
OMIM:618567 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Paroxysmal Nonkinesigenic Dyskinesia 1 |
|
Paroxysmal dystonia, Torticollis, Paroxysmal choreoathetosis |
OMIM:118800 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color |
ORPHA:90036 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior |
OMIM:248510 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Narrow palpebral fissure, Waddling gait |
OMIM:616269 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epitheli... |
ORPHA:228308 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
| Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Chorea, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Neutropenia, Choreoathetosis, ... |
ORPHA:79312 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
| Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Delayed CNS myelination, Epicanthus, Ataxia, Involuntary movements, Inability to walk, Chorea, Sy... |
OMIM:617804 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls |
OMIM:301020 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Sparse eyebrow, Chorea, Hemiparesis, ... |
OMIM:618829 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Ataxia, Paraparesis, Thrombocytopenia, Chor... |
ORPHA:27 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Delayed CNS myelination, Dystonia, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inab... |
OMIM:619653 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hydronephrosis, Akinesia |
OMIM:607598 |
| Early-Onset X-Linked Optic Atrophy |
|
Babinski sign, Gait ataxia, Choreoathetosis, Dysdiadochokinesis, Intention tremor |
ORPHA:98890 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
| Allan-Herndon-Dudley Syndrome |
|
Dystonia, Ataxia, Small for gestational age, Failure to thrive in infancy, Delayed myelination, B... |
ORPHA:59 |
| Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentratio... |
OMIM:272300 |
| Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholel... |
ORPHA:521219 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Ethylmalonic aciduria, Progr... |
OMIM:612233 |
| Phenylketonuria |
|
Hyperactivity, Cataract, Aggressive behavior, Blue irides, Attention deficit hyperactivity disord... |
OMIM:261600 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Chorea, Spasticity, Dystonia |
OMIM:613970 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
| Congenital Myopathy 9A |
|
EMG: myopathic abnormalities, Tongue fasciculations, Akinesia |
OMIM:618822 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Spastic tetraplegia, Choreoathetosis, Dystonia, Spasticity, Failure to thrive, Ptosis |
OMIM:618238 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Involuntary movements, Chorea, Synophrys, Gait ataxia, Hypertonia, Long eyelashes, Spasticity, Th... |
OMIM:614961 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Pain insensitivity, Delayed CNS myelination, Ptosis,... |
OMIM:615273 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
| Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... |
OMIM:615905 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Delayed CNS myelination, Incoordination, Ataxia, Clonus, Tetraplegia, Choreoathetosis, Hyperlysin... |
OMIM:616034 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Ptosis, Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykine... |
ORPHA:70594 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
| Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Chorea, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Ptosis |
OMIM:612016 |
| Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Spasticity, Ptosis |
OMIM:620149 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Bilateral ptosis, Difficulty walking, Dystonia |
ORPHA:330050 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Urinary incontinence, Rigidi... |
OMIM:183090 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Letharg... |
OMIM:312170 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Spasticity, Dystonia |
OMIM:614249 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Elevated circulating creatine kinase concentration, Tremor, Degeneration of anterior horn cells, ... |
OMIM:159950 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity, Intention tremor |
OMIM:614307 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, CNS hypomyelination, Leukodystrophy, D... |
OMIM:607694 |
| Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Failure to thrive, Myoclonus |
OMIM:609056 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Hepatomegaly, Lagophthalmos, Micronodular cirrhosis, At... |
ORPHA:404454 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Inability to walk, Chorea, Spastic tetraplegia, Hypertonia, Spastic... |
OMIM:617864 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Failur... |
OMIM:616672 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
| Foxg1 Syndrome |
|
Inability to walk, Delayed myelination, Choreoathetosis, Hyperkinetic movements, Myoclonus, Diffi... |
ORPHA:561854 |
| Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity |
OMIM:312840 |
| Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Crigler-Najjar Syndrome Type 1 |
|
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
| Birk-Landau-Perez Syndrome |
|
Ptosis, Stage 3 chronic kidney disease, Renal insufficiency, Dystonia, Failure to thrive in infan... |
OMIM:617595 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Glutaric aciduria, Chronic k... |
ORPHA:25 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
| Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Urinary incontinence, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive |
OMIM:619556 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnorma... |
ORPHA:646 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Elevated circulating creatine kinase concen... |
ORPHA:64753 |
| Oculorenocerebellar Syndrome |
|
Choreoathetosis, Nephropathy, Glomerular sclerosis, Spastic diplegia |
OMIM:257970 |
| Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| 4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
| Spastic Paraplegia 86, Autosomal Recessive |
|
Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathetosis |
OMIM:619735 |
| Pyruvate Dehydrogenase Deficiency |
|
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Upslanted p... |
ORPHA:765 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Dyst... |
OMIM:610217 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Clonus, Chorea, Babinski sign, Opisthotonus, Extrapyramidal dyskinesia, Dystonia, Spasticity, Lim... |
OMIM:612389 |
| Pandas |
|
Enuresis, Chorea, Clumsiness |
ORPHA:66624 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Atte... |
OMIM:620141 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia |
OMIM:617270 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
| Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
| Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Rigidity, Glutaric aciduria, Delayed myelination, Spastic diplegia, Opis... |
OMIM:231670 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Ataxia, Segmental peripheral demyelin... |
ORPHA:255210 |
| Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Gait disturbance, Abnorma... |
ORPHA:306682 |
| Nasu-Hakola Disease |
|
Oculomotor apraxia, Chorea, Spasticity, Acute leukemia |
ORPHA:2770 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ataxia, Involuntary movements, Hypospadias, Dystonia, Chorea, Megacystis, Clumsin... |
ORPHA:209905 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
| D-Glyceric Aciduria |
|
Chorea, Hyperglycinuria, Myoclonus, Spasticity |
ORPHA:941 |
| Developmental And Epileptic Encephalopathy 74 |
|
Choreoathetosis, Delayed CNS myelination |
OMIM:618396 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Difficulty walking, Truncal ataxia |
ORPHA:369847 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Limb dystonia, Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Ga... |
ORPHA:363400 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Tremor, Nephrotic syndrome, Hypertonia, Gait disturbance, Nephropathy, Anemia |
ORPHA:1192 |
| Cimdag Syndrome |
|
Hepatomegaly, Ataxia, Microvesicular hepatic steatosis, Chorea, Dystonia, Cholelithiasis, Spasticity |
OMIM:619273 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... |
OMIM:245348 |
| Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
| Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Choreoathetosis, Dystonia, Frequent f... |
OMIM:618416 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Renal tubular acidosis, Organic acid... |
ORPHA:431361 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
| Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Delayed CNS myelination, Hypospadias, Epicanthus, Failure to thrive in infancy,... |
OMIM:601808 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Short stepped shuffling gait |
OMIM:168605 |
| Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Developmental And Epileptic Encephalopathy 1 |
|
Delayed CNS myelination, Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis... |
OMIM:308350 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Lethargy, Limb hypertonia |
OMIM:233910 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Elevate... |
OMIM:612953 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Elevated circulating creatine kinase concentration,... |
OMIM:617013 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, CNS hypomyelination, Dysdiadocho... |
OMIM:614381 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Bradykinesia, Shuf... |
ORPHA:411602 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Ptosis |
OMIM:619422 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Hypertonia, Limb dystonia, Loss of am... |
ORPHA:2388 |
| Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Ataxia, Elevated circulating creatine kinase concentration, Ptosis |
OMIM:619473 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Difficulty walking, ... |
ORPHA:280210 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Rigidity, Inability to walk, Nephrolithiasis, CNS hypomyelination, Choreoathetosis, Hypertonia |
OMIM:620023 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Upslanted palpebral fissure, Hypertonia,... |
OMIM:619092 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Epicanthus, Ataxia, Abnormal location of the eyebrow, Almond-shaped palpebral fissure, Chorea, De... |
ORPHA:522077 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Polycythemia, Hepatomegaly, Portal hypertension, Micronodul... |
ORPHA:309854 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, ... |
OMIM:618321 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Nephrotic range proteinuria, Tremor, Oromotor apraxia, CNS hypomye... |
ORPHA:300536 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:97349 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
| Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Joint contracture of the hand, P... |
OMIM:263700 |
| Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Chorea, Athetosis, Micropenis, Downslanted palpebral fissures |
OMIM:619435 |
| X-Linked Intellectual Disability, Schimke Type |
|
Failure to thrive in infancy, Choreoathetosis, Vesicoureteral reflux, Spasticity, Hydronephrosis |
ORPHA:85285 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Unsteady gait, Dysmetria, Tit... |
OMIM:619405 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Leukodystrophy, Dystonia |
OMIM:614932 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Urinary incontinence, Action tremor, Impaired dist... |
OMIM:300623 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomotor apraxia |
OMIM:614867 |
| Trisomy X |
|
Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Upslanted palpebral f... |
ORPHA:3375 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach... |
OMIM:221900 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Urinary incontinence, Akinesia, Parkinsonism, Trem... |
OMIM:234200 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Slender build, Myoclonus |
OMIM:617600 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Ataxia, Elevated circulating creatine kinase concentration, Recurrent myoglobinuria... |
OMIM:607426 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia |
ORPHA:93941 |
| Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:608799 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cachexia, Weight loss |
ORPHA:298 |
| Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
| Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Nephropathy |
ORPHA:87876 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Akinesia, Spastic tetraplegia, Hypertonia, Mild proteinuria |
OMIM:619147 |
| Snijders Blok-Fisher Syndrome |
|
Epicanthus, Delayed CNS myelination, Opisthotonus, Choreoathetosis, Spasticity |
OMIM:618604 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
| East Syndrome |
|
Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, Increased circu... |
ORPHA:199343 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Spasticity |
OMIM:616840 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Ataxia, Reticulocytosi... |
ORPHA:713 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
| Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Tremor, Methylmalonic aciduria, Dysmetria, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy... |
OMIM:310600 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... |
OMIM:137440 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Dystonia, Extrapyramidal dyskinesia, Opisthotonus |
OMIM:277470 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraple... |
OMIM:616586 |
| Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Lymphopenia, Ataxia, Tremor, Gait disturbance, Spasticity, Failure... |
ORPHA:100 |
| Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Choreoathetosis, Cerebr... |
OMIM:612164 |
| Rheumatic Fever |
|
Chorea, Nephrotic syndrome, Gait disturbance, Hemiballismus, Fasciculations |
ORPHA:3099 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Dystonia, Spasticity, Ptosis |
OMIM:617664 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia |
ORPHA:42 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... |
OMIM:616505 |
| Combined Oxidative Phosphorylation Defect Type 13 |
|
Delayed myelination, Choreoathetosis, Lower limb hypertonia, Limb dystonia, Failure to thrive |
ORPHA:319514 |
| Cronkhite-Canada Syndrome |
|
Cachexia |
ORPHA:2930 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Delayed CNS myelination, Epicanthus, Ataxia, Hypospadias, Small fo... |
OMIM:615471 |
| Alexander Disease |
|
Ataxia, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, Gait disturbance, Spasticit... |
ORPHA:58 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Delayed CNS myelination, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, D... |
OMIM:617710 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Abnormal pyramidal sign, Neutropenia, Spastic... |
ORPHA:445038 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia |
OMIM:618249 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Generalized amyotrophy, Arthrogry... |
ORPHA:994 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Wilson Disease |
|
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hepa... |
OMIM:277900 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Anorexia, Aggressive behavior, Tremor, Abnormal fear-induced behavior |
ORPHA:3077 |
| Rett Syndrome, Congenital Variant |
|
Dystonia, Chorea, Delayed myelination, Athetosis, Apraxia, Spasticity |
OMIM:613454 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
| Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
| Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... |
ORPHA:812 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Elevated circ... |
OMIM:614298 |
| Hepatoerythropoietic Porphyria |
|
Splenomegaly, Red urine, Red-brown urine, Paresthesia, Purple urine |
ORPHA:95159 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Hy... |
OMIM:618060 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Ataxia, Megaloblastic anemia, Tremor, Hydr... |
OMIM:222300 |
| Majeed Syndrome |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:77297 |
| Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Sparse eyelashes, Tremor, Inability to walk, Sparse ey... |
OMIM:617988 |
| Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Autoimmune thrombocytopenia, Chorea, Chro... |
ORPHA:1855 |
| Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Extrapyramidal muscular rigidity, Proteinuria, Elevated circulatin... |
ORPHA:94093 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... |
OMIM:300957 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Choreoathetosis, Dystonia, Lacticaciduria, Limb hypertonia |
OMIM:618247 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Ptosis, Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor,... |
OMIM:608643 |
| Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Elevated circulating creatine kinase concentration, Ptosis |
OMIM:619790 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... |
ORPHA:1454 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ptosis, Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... |
OMIM:105210 |
| Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Thro... |
OMIM:251100 |
| Typhoid |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypertonia, Lethargy |
ORPHA:99745 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Unsteady gait, ... |
OMIM:254900 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Inability to walk, Chorea, Pollakisuria, Tip-... |
ORPHA:268 |
| Congenital Myopathy 12 |
|
Jaw contracture, Joint contracture of the hand, Akinesia, Camptodactyly |
OMIM:612540 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Neutropenia, Opisthotonus, Choreoathetosis, Leukopenia, Hyperkinetic movements, 3... |
OMIM:616271 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Tremor, Incr... |
ORPHA:263455 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Limb ataxi... |
OMIM:617675 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Astigmatism |
OMIM:614619 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelina... |
OMIM:618527 |
| Holoprosencephaly |
|
Hypoplasia of penis, Epicanthus, Proteinuria, Failure to thrive in infancy, Highly arched eyebrow... |
ORPHA:2162 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Flexion contracture, Akinesia |
OMIM:253290 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Hypoplasia of the musculature, Akinesia |
OMIM:225790 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Ataxia, Pure red ce... |
OMIM:613179 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Elevated circulating creatine kinase... |
ORPHA:79095 |
| Developmental And Epileptic Encephalopathy 100 |
|
Delayed CNS myelination, Chorea, Synophrys, Gait ataxia, Choreoathetosis, Myoclonus, Short palpeb... |
OMIM:619777 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Parkinsonism, Elevated circulati... |
OMIM:200150 |
| Catastrophic Antiphospholipid Syndrome |
|
Abnormality of the kidney, Chorea, Coombs-positive hemolytic anemia, Microangiopathic hemolytic a... |
ORPHA:464343 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Small for gestational age, Myoclonus, Abnormal myelination |
ORPHA:289266 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Congenital Erythropoietic Porphyria |
|
Splenomegaly, Red-brown urine, Porphyrinuria, Increased urinary porphobilinogen, Paresthesia, Pur... |
ORPHA:79277 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Epicanthus, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyp... |
OMIM:618056 |
| Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly... |
ORPHA:94080 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
| Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement... |
ORPHA:391428 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Dystonia, Tremor, Splenomegaly, Jaundice,... |
OMIM:615512 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuria, Spastic dipl... |
ORPHA:2203 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Falls, Gait imba... |
OMIM:609454 |
| Rett Syndrome |
|
Cachexia |
OMIM:312750 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia |
OMIM:175500 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Tremor, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Thromb... |
OMIM:274150 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Lymphopenia, Ataxia, Tremor, Inability to walk, Slurred speech, Chor... |
OMIM:208900 |
| Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Pontocerebellar Hypoplasia, Type 7 |
|
Epicanthus, Ataxia, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathetosis, Micropenis, Hyp... |
OMIM:614969 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly, Elevated circulating aspartate... |
OMIM:619534 |
| Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Tremor, Cystathioninuria, Hemolytic-uremi... |
OMIM:277400 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abn... |
ORPHA:447753 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Abnormal myelination, Urinary incontin... |
ORPHA:466768 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Lesch-Nyhan Phenotype With Normal Hgprt |
|
Choreoathetosis, Spasticity |
OMIM:308950 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Epicanthus, Hemidystonia, Tremor, Obesity, Enuresis nocturna, Upslan... |
OMIM:619680 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Delayed CNS myelination, Elevated hemoglobin A1c, Tremor, Babinski sign, Renal tubular dysfunctio... |
OMIM:616539 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
| Tetanus |
|
Elevated circulating creatine kinase concentration, Elevated urinary norepinephrine level, Tremor... |
ORPHA:3299 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Proteinuria, Tremor, Almond-shaped palpebral... |
OMIM:212065 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Arthrogryposis multiplex ... |
OMIM:608013 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
| Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Oculomotor apraxia,... |
ORPHA:220497 |
| Episodic Ataxia Type 1 |
|
Poor coordination, Clumsiness, Choreoathetosis, Tip-toe gait, Hypertonia |
ORPHA:37612 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Urinary urgency, Dystonia, Short st... |
OMIM:168600 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor fine motor coord... |
ORPHA:99956 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski sign, Bradykinesia, Urinar... |
OMIM:146500 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Urinary incontinence, Tremor, Fasciculations, Difficulty walking, Frequent falls, M... |
ORPHA:329478 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Glomerulonephritis, Hypersplenism, Spleno... |
ORPHA:1304 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Resting tremor, Failure to thrive, Ataxia, Elevated circulating cr... |
ORPHA:254892 |
| Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Lethargy, Failure to thrive |
OMIM:201100 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
OMIM:609541 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Opisthotonus, Choreoathetosis, Nephrocalcinosis, Hyperuric... |
OMIM:300322 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Laryngeal dyst... |
ORPHA:845 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Gait imbalance, Re... |
OMIM:601104 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Tremor, Delayed myelination, Obesity, Myoclonus, Gait imbalance |
ORPHA:98794 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Whipple Disease |
|
Cachexia |
ORPHA:3452 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Optic atrophy |
ORPHA:320406 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Lower limb spasticity, Renal insufficiency, Hepatomegaly, Ataxia, ... |
ORPHA:90321 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Ataxia, Distal sensory impairment, Choreoathetosis, Conjunctivitis, Spasticity, Ectropion |
OMIM:278700 |
| Arthrogryposis Multiplex Congenita 5 |
|
Akinesia, Flexion contracture, Elbow flexion contracture, Hand tremor, Hypertonia, Camptodactyly,... |
OMIM:618947 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Somatic sensory dysfunction, Chronic active hepatitis, Ab... |
ORPHA:289390 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria, Leukopenia, Thrombocyt... |
ORPHA:536 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corn... |
OMIM:256800 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Dystonia, Tremor, Abnormal gallbladder morphology, ... |
ORPHA:512 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Delayed CNS myelination, Telecanthus, Tremor, Sparse eyebrow, Epiblepharon, Tip-to... |
OMIM:617557 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, Ataxia, Inability to walk, Opisthotonus, Choreoathetosis, Gait ataxia, C... |
OMIM:619580 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Acanthocytosis, Rigidity, Slurred speech, Leg dystonia, Choreoathetosis, ... |
ORPHA:157850 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Athetosis, Difficulty walkin... |
ORPHA:572798 |
| De Sanctis-Cacchione Syndrome |
|
Entropion, Ataxia, Babinski sign, Scissor gait, Choreoathetosis, Hypertonia, Conjunctivitis, Leuk... |
OMIM:278800 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Abnormal dense granules, Tremor,... |
OMIM:214500 |
| Sézary Syndrome |
|
Hepatomegaly, Tremor, Splenomegaly, Abnormal lymphocyte morphology, Ectropion |
ORPHA:3162 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Tremor, Enuresis, Hepatic... |
ORPHA:247585 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Almond-shaped palpebral fissure, Stage 5 chronic kidney disease, Cho... |
OMIM:619603 |
| 12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Tremor, Abnormality of the spleen, Synophrys, Renal hypoplasia, Horseshoe kidney,... |
ORPHA:94063 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Hypospadias, Unsteady gait, Methylmalonic ... |
ORPHA:17 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Ataxia, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Spasticity, Ectro... |
OMIM:278730 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Spastic diplegia, Choreoathetosis, Spasticity |
ORPHA:2715 |
| Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:276621 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Cataract |
OMIM:620327 |
| African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Abnormal central motor function, Somatic sensory dysfunction, ... |
ORPHA:3385 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Clonus, Elevated circulating creatine kinase concentration, Tremor, Ptosis |
OMIM:619424 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Multicystic kidney dysplasia, Obesity, Choreoathetosis, Dystonia, Failure to thri... |
ORPHA:261197 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
| Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... |
OMIM:609049 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia |
ORPHA:109 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Hypospadias, Small for gestational age, Tremor, 3-Methylglutaconic aciduria, Failure to t... |
OMIM:614052 |
| Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Tremor, Inability to walk, Flexion... |
ORPHA:86309 |
| Japanese Encephalitis |
|
Neutrophilia, Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Paucity of anter... |
ORPHA:79139 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:29072 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Kallmann Syndrome |
|
Hypoplasia of penis, Ataxia, Renal agenesis, Tremor, Obesity, Paraplegia, Gait disturbance, Micro... |
ORPHA:478 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Epicanthus, Ureteral hypoplasia, Bladder trabeculation, Tr... |
OMIM:614080 |
| Nmda Receptor Encephalitis |
|
Involuntary movements, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo... |
ORPHA:217253 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
| Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
| Monosomy 18Q |
|
Epicanthus, Slender build, Poor coordination, Choreoathetosis, Abnormal myelination, Micropenis, ... |
ORPHA:1600 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Thrombocytopenia, Abnormal pyramidal sign, Abnormality of extrapyramidal motor fu... |
OMIM:612199 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Blepharophimosis, Ptosis, Downslanted palpebral fissures, Abnormal myelination |
OMIM:617333 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:800 |
| Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Ataxia, Tremor, Delayed myelination, Abnormal pyramidal sign, Lacticaciduria, CNS h... |
ORPHA:3008 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
| Aicardi-Goutières Syndrome |
|
Tremor, Abnormal pyramidal sign, Eyelid coloboma, Hypertonia, Leukodystrophy, Micropenis, Extrapy... |
ORPHA:51 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Cataract, Optic atrophy, Retinal dysplasia |
OMIM:253800 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Optic atrophy |
OMIM:616881 |
| Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Optic atrophy, Exaggerated startle response |
OMIM:617281 |
| Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Ataxia, Par... |
ORPHA:167 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Menkes Disease |
|
Chorea, Bladder diverticulum, Hypertonia, Prolonged neonatal jaundice, Spasticity |
ORPHA:565 |
| Early Infantile Epileptic Encephalopathy |
|
Tremor, Delayed myelination, Micropenis, Choreoathetosis, Myoclonus, Ureterocele, Dystonia, Episo... |
ORPHA:1934 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Weight loss |
ORPHA:1842 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Rhabdoid Tumor |
|
Weight loss |
ORPHA:69077 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn... |
ORPHA:649 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| Oculopharyngodistal Myopathy 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Bilateral ptosis, Weight loss... |
OMIM:164310 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617301 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
| Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Attention deficit hyperactivity disorder, Developmental ... |
OMIM:620185 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Classic Hodgkin Lymphoma |
|
Weight loss |
ORPHA:391 |
| Listeriosis |
|
Somatic sensory dysfunction, Liver abscess, Ataxia, Tremor, Jaundice, Peritonitis, Pyelonephritis... |
ORPHA:533 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Weight loss |
ORPHA:3208 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Ataxia, Protein... |
ORPHA:2750 |
| Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Ataxia, Hypospadias, Dystonia, Increased hepatocellular lipid droplets, Tremor, Microv... |
OMIM:220111 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Jaundice, Neutropenia, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hy... |
OMIM:617248 |
| Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Tr... |
ORPHA:1578 |
| Porphyria, Acute Intermittent |
|
Dysuria, Urinary incontinence, Paralysis, Urinary retention, Respiratory paralysis, Paresthesia, ... |
OMIM:176000 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Cockayne Syndrome |
|
Cachexia |
ORPHA:191 |
| Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Hand tremor |
ORPHA:99819 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
| Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Decreased urinary potassium, Obesity, Tetraplegia, Weight loss, Respiratory pa... |
ORPHA:79102 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Optic atrophy, Dystonia |
ORPHA:521426 |
| Camurati-Engelmann Disease |
|
Slender build, Cachexia |
ORPHA:1328 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Degcags Syndrome |
|
Synophrys, Bilateral renal hypoplasia, Vocal cord paralysis, Leukopenia, Iron deficiency anemia, ... |
OMIM:619488 |
| Scorpion Envenomation |
|
Hemifacial spasm, Ketonuria, Ataxia, Elevated circulating aspartate aminotransferase concentratio... |
ORPHA:466677 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss |
ORPHA:142 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia |
ORPHA:2072 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Optic atrophy, Dysphagia |
OMIM:617527 |
| Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
| Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:95427 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Full Nf2-Related Schwannomatosis |
|
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Dysph... |
ORPHA:637 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss |
ORPHA:92050 |
| Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
| Neuroocular Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
| Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Gm1 Gangliosidosis |
|
Failure to thrive, Weight loss |
ORPHA:354 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
| Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Optic nerve hypoplasia |
OMIM:615574 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Proteus Syndrome |
|
Cachexia |
ORPHA:744 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Oculomotor apraxia, Abnormal myelination |
ORPHA:67045 |
| Polymyositis |
|
Weight loss |
ORPHA:732 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| 8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Weight loss |
OMIM:619487 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
| Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:212750 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss |
ORPHA:465508 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
| Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
| Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:361 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
| Glossopharyngeal Neuralgia |
|
Weight loss |
ORPHA:221098 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
| 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 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
| Beta-Ketothiolase Deficiency |
|
Weight loss |
ORPHA:134 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Weight loss |
ORPHA:370348 |
| Giant Cell Arteritis |
|
Weight loss |
ORPHA:397 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Weight loss |
ORPHA:199299 |
| Thymoma |
|
Weight loss |
ORPHA:99867 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
| Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Weight loss |
ORPHA:20 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... |
OMIM:300166 |
| Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
| Malignant Atrophic Papulosis |
|
Weight loss |
ORPHA:679 |
| Lynch Syndrome |
|
Weight loss |
ORPHA:144 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Familial Colorectal Cancer Type X |
|
Weight loss |
ORPHA:440437 |
| Simple Cryoglobulinemia |
|
Weight loss |
ORPHA:91139 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
| 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 |
| Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
| Caroli Disease |
|
Weight loss |
ORPHA:53035 |
| Q Fever |
|
Weight loss |
ORPHA:781 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
| Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Alveolar Echinococcosis |
|
Weight loss |
ORPHA:284 |
| Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
| Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Dysphagia, Dystonia, Stereotypical hand wringing |
ORPHA:438213 |
| Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
| Erdheim-Chester Disease |
|
Weight loss |
ORPHA:35687 |
| Mucolipidosis Type Ii |
|
Weight loss |
ORPHA:576 |
| Multiple Myeloma |
|
Weight loss |
ORPHA:29073 |
| Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... |
OMIM:619522 |
| Addison Disease |
|
Failure to thrive, Weight loss |
ORPHA:85138 |
| Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
| Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
| Aicardi-Goutieres Syndrome 7 |
|
Weight loss |
OMIM:615846 |
| Ppoma |
|
Weight loss |
ORPHA:97278 |
| Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
| Fanconi Anemia |
|
Weight loss |
ORPHA:84 |
| Tsh-Secreting Pituitary Adenoma |
|
Weight loss |
ORPHA:91347 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |
| Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss |
OMIM:219800 |
| Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
ORPHA:900 |
| Zollinger-Ellison Syndrome |
|
Weight loss |
ORPHA:913 |
| Grfoma |
|
Weight loss |
ORPHA:97261 |
| Vipoma |
|
Weight loss |
ORPHA:97282 |
| Orofaciodigital Syndrome Type 14 |
|
Upslanted palpebral fissure, Epispadias, Telecanthus, Abnormal myelination |
ORPHA:434179 |
| Glucagonoma |
|
Weight loss |
ORPHA:97280 |
| 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, Increased body weight, Weight loss |
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 |
