Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Episodic Ataxia, Type 1 |
|
Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre... |
OMIM:160120 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Distal lower l... |
ORPHA:100984 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Distal lower limb amyotrophy, Hand muscle weakness, Impaired pain sensation, Impaired distal vibr... |
OMIM:300905 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... |
ORPHA:306692 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra... |
ORPHA:521406 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Hypomimic fac... |
OMIM:615528 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Hypomi... |
OMIM:300423 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Sandhoff Disease, Adult Form |
|
Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul... |
ORPHA:309169 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Urinary urgency, Bradykine... |
OMIM:618418 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Paroxysmal lethargy, Choreoathetosis, Hemi... |
OMIM:606777 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykines... |
OMIM:213600 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... |
OMIM:618824 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy |
OMIM:617018 |
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 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance |
OMIM:609161 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive c... |
ORPHA:248111 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Urinary incontinence, Parkinsonism, Rigidity, Chorea, Dysmetr... |
OMIM:607136 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait dist... |
OMIM:615643 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity |
OMIM:611105 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... |
OMIM:615048 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia |
OMIM:605909 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Impaired distal vibration sen... |
ORPHA:276435 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal muscle weakness, Paralysis, Distal sensory impairment, Difficulty walking, Lethargy, Muscl... |
OMIM:613710 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Huntington Disease-Like 2 |
|
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Dystonia |
ORPHA:98934 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... |
OMIM:182980 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Seizure, Hypertonia, Status ep... |
ORPHA:71277 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Seizure, Myoclonus, Difficulty walking, Dystonia, Lethargy, Spasticity |
OMIM:617829 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Difficulty walking, Abnormal po... |
OMIM:619565 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Fiber type grouping, Distal amyotrophy, Distal sensory impairment |
OMIM:614369 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Dystonia, Limb hyper... |
OMIM:617384 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait |
OMIM:619052 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfun... |
OMIM:500001 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cogwheel ... |
ORPHA:254886 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... |
OMIM:612126 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, H... |
ORPHA:238455 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Urinary incontinence, Postural tremor, Rigidi... |
OMIM:183090 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... |
OMIM:221820 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking... |
OMIM:614018 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetra... |
OMIM:615924 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized... |
ORPHA:171439 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmet... |
ORPHA:98755 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Bradykinesia, Upper limb muscle weakness, Po... |
ORPHA:171442 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Skeletal muscle atrophy, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia... |
OMIM:616719 |
Huntington Disease |
|
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Clumsiness, We... |
ORPHA:399 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, External ophthalmoplegia, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogo... |
OMIM:615768 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B... |
OMIM:615157 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Babinski sign, Spastic ... |
OMIM:300055 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Tremor, Inability to walk, ... |
OMIM:617013 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Classic Galactosemia |
|
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... |
ORPHA:79239 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... |
OMIM:253400 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Somatic sensory dysfunction, Hand muscle weakness, Tremor, Inabilit... |
ORPHA:101077 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... |
OMIM:258450 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri... |
ORPHA:216873 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Dystonia,... |
OMIM:618224 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... |
ORPHA:70594 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... |
OMIM:137440 |
Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... |
ORPHA:13 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paresis of extensor muscles of the big toe, Distal muscle weakness, Distal lower limb muscle weak... |
OMIM:158590 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Decreased serum iron, Increased circulating ferritin concentration, Chorea, ... |
OMIM:604290 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Early Myoclonic Encephalopathy |
|
Infantile spasms, Focal seizure with eyelid myoclonia, Focal motor seizure, Focal tonic seizure, ... |
ORPHA:1935 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... |
ORPHA:157941 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata... |
OMIM:603516 |
Developmental And Epileptic Encephalopathy 40 |
|
Spastic tetraparesis, Choreoathetosis, Seizure, Myoclonus, Lethargy, Spasticity |
OMIM:617065 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to wal... |
OMIM:618877 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... |
OMIM:616668 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... |
OMIM:607317 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... |
OMIM:608634 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Motor neuron atrophy, Bradykinesia, Falls, Shuffling gait, Short stepped shuffling ... |
ORPHA:412066 |
Severe Canavan Disease |
|
Poor head control, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Seizure, Dec... |
ORPHA:314911 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Urinary incontinence, Action tremor, Impaired dist... |
OMIM:300623 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Seizure, Ataxia |
ORPHA:622 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Urinary incontinence, Rigidity, Babinski sign, Hand tremor, Bradykinesia,... |
ORPHA:289560 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Incoordination, Ataxia, Dystonia, Dysmetria, Gait ataxia, Urinary urgency, Hemiparesis, Bradykine... |
OMIM:601338 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at... |
ORPHA:101109 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Spinocerebellar Ataxia 18 |
|
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... |
OMIM:607458 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia... |
OMIM:261630 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Skeletal muscle atrophy, Somatic sensory dysfunction, Postural trem... |
ORPHA:3115 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Saccharopinuria |
|
Tremor, Mental deterioration, Hypercystinemia, Hyperammonemia, Spastic diplegia, Gait ataxia, Abn... |
ORPHA:3124 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Tremor, Spastic paraplegia, Babinski sign, I... |
OMIM:600363 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Paresis of extensor muscles of the big toe, Somatic sensory dysfunc... |
ORPHA:99947 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Urinary incontinence, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxi... |
ORPHA:225147 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Cachexia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... |
OMIM:617284 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, Truncal ataxia, ... |
ORPHA:314978 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Focal-onset seizure, Depression, Hemiparesis, Sei... |
OMIM:614307 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa... |
OMIM:615889 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... |
OMIM:617854 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:100999 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Impaired vibration sensation in the lower li... |
ORPHA:352675 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titu... |
OMIM:607483 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Distal amyotrophy, Steppage ga... |
OMIM:618387 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Urinary urgency, Lower limb spasticity, Bradykinesia |
OMIM:618878 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ... |
OMIM:607641 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Progressive flexion con... |
ORPHA:98808 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Clonus, Urinary incontinence, Chorea, Upper-limb joint contracture, Opis... |
ORPHA:300605 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Distal upper limb amyotrop... |
ORPHA:101075 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Thenar muscle atrophy, Th... |
OMIM:270685 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Clumsiness, ... |
ORPHA:98768 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Skeletal muscle atrophy, Parkinsonism, Facial palsy, Impaired distal propriocepti... |
OMIM:157640 |
Developmental And Epileptic Encephalopathy 97 |
|
Poor head control, Epileptic spasm, Tremor, Inability to walk, Seizure |
OMIM:619561 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ataxia, Ophthalmoplegia, Myoclonic seizure, Seizure, Myoclonus, Lethargy, Spasticity |
OMIM:618225 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Leg muscle stiffness, Brad... |
OMIM:615530 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... |
OMIM:105500 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Neurogenic bladder, Lower limb spasticity, Detrusor sphincter dyssynergia, U... |
ORPHA:466722 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Postural tremor, Ur... |
ORPHA:100988 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Unsteady gait, Primary amenorrhea, Secondary amenorrhea, Seizure... |
OMIM:603896 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617672 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign, Truncal ataxia,... |
OMIM:238970 |
Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Seizure, Gait disturbance |
ORPHA:79283 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr... |
OMIM:615010 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Fasciculations, Distal sensory impairment, Weight loss |
ORPHA:84142 |
Primary Progressive Freezing Gait |
|
Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbala... |
ORPHA:75567 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia,... |
ORPHA:98760 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Flexion contracture, Limb muscle weakness, Distal sensory impairment, Dist... |
OMIM:609260 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal... |
ORPHA:309854 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Lethargy, Limb hype... |
OMIM:233910 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Seizure, Myoclonus, Truncal ataxia, Lethargy |
OMIM:250620 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Hypertonia, Tetraplegia, Seizure |
OMIM:274270 |
Isolated Atp Synthase Deficiency |
|
Ataxia, Ophthalmoplegia, Spastic paraplegia, Tetraplegia, Myoclonic seizure, Seizure, Hypogonadis... |
ORPHA:254913 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Neuronal loss in ... |
OMIM:610245 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cram... |
OMIM:128100 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:171695 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Gait disturbance, Myoclonu... |
OMIM:168601 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Oculomotor ... |
OMIM:208920 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Decreased circulating antibody level, Gait disturbance, Aplasia/Hypoplasi... |
ORPHA:2572 |
Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Babinski sign, Focal tonic se... |
OMIM:617105 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal muscle weakness, Paralysis, Distal sensory impairment, Distal upper limb muscle weakness, ... |
OMIM:605285 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Rett Syndrome |
|
Skeletal muscle atrophy, Limb apraxia, Inability to walk, Bradykinesia, Gait disturbance, Cholecy... |
ORPHA:778 |
Glycine Encephalopathy 1 |
|
Lethargy, Seizure, Myoclonus |
OMIM:605899 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Facial palsy, Proximal muscle weakness, Tremor, Gowers sign, Respirato... |
OMIM:159950 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Urocanic aciduria, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Distal amyotrop... |
OMIM:118300 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Hemiparesis, Lethargy, Seizure |
OMIM:617900 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... |
OMIM:612319 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, Shuffling gait, Left ventricular hypertro... |
ORPHA:228346 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax... |
ORPHA:210128 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Tremor, Gait disturbance |
ORPHA:101078 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns... |
OMIM:619405 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Spastic/hyperactive bladder, Weight loss, Brady... |
ORPHA:411602 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Inability to walk, Focal-onset seizure... |
ORPHA:330050 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Bulbar palsy, Tremor, Decreased fertility, Fasciculations, Limb muscle weakness, Testicular atrophy |
OMIM:313200 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Seizure, Gait disturbance |
ORPHA:26 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... |
OMIM:614034 |
Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy, Impotence, Hypogonadism, Muscle weakness |
ORPHA:79230 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Urinary urgency, Bradykinesia, Dystonia, Short st... |
OMIM:168600 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... |
ORPHA:98764 |
Manganese Poisoning |
|
Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Hypertonia, Abnormality of extrapyram... |
ORPHA:306682 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... |
ORPHA:97355 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Ataxia |
OMIM:619099 |
Pontocerebellar Hypoplasia, Type 6 |
|
Appendicular spasticity, Lower limb spasticity, Poor head control, Generalized-onset seizure, Sei... |
OMIM:611523 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... |
OMIM:617831 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Elevated uri... |
OMIM:618049 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypertonia, Seizure, Dystonia |
ORPHA:26792 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Lethargy, Seizure |
OMIM:613002 |
Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea |
OMIM:602390 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Emotional lability, Waddling gait, Inability to walk |
OMIM:616269 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Spinal cord posterior columns myelin loss,... |
ORPHA:98756 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles... |
OMIM:302800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Lethargy, Generalized muscle weakness, Seizure |
ORPHA:276608 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Lacticaciduria |
OMIM:619063 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Seizure, Ataxia, Dystonia |
OMIM:246900 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Seizure, Myoclonus, Dystonia, Episodic ataxia, Lethargy |
OMIM:312170 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the liv... |
ORPHA:254892 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci... |
OMIM:617916 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Obesity, Limb dystonia |
OMIM:620270 |
Cyclic Vomiting Syndrome |
|
Lethargy, Seizure, Ataxia, Muscle weakness |
OMIM:500007 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ... |
ORPHA:48818 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic... |
ORPHA:209335 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Seizure, Gait disturban... |
ORPHA:765 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Seizure, Ataxia, Muscle weakness |
OMIM:618951 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Obesity, Dysm... |
ORPHA:93952 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Small for gestational age, Ataxia |
OMIM:278780 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... |
OMIM:619028 |
Atypical Rett Syndrome |
|
Total ophthalmoplegia, Dystonia, Generalized myoclonic seizure, Involuntary movements, Infantile ... |
ORPHA:3095 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:171863 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Spastic tetraparesis... |
OMIM:614924 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysme... |
ORPHA:79263 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Central Neurocytoma |
|
Pain insensitivity, Ataxia, Babinski sign, Depression, Paresthesia, Lethargy |
ORPHA:73256 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:171612 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Ophthalmoplegia, Babinski sign, Seizure, Dystonia, Lethargy |
OMIM:618226 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig... |
OMIM:615491 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:100993 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Babinski sign, Spastic/hyperactive bladde... |
ORPHA:137898 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
Susac Syndrome |
|
Somatic sensory dysfunction, Upper motor neuron dysfunction, Gait ataxia, Apathy, Lethargy, Muscl... |
ORPHA:838 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Elevated circulating creatine kinase concentration, Parkinsonism, T... |
OMIM:614298 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Depression, Gait ataxia, Progressive cer... |
ORPHA:254881 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Abnormal ... |
ORPHA:90159 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Dihydropyrimidinase Deficiency |
|
Lethargy, Seizure, Abnormal pyramidal sign, Extrapyramidal dyskinesia |
OMIM:222748 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus |
OMIM:613608 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Inability to walk, Dysmetria, Ga... |
OMIM:618090 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Leukocytosis, Hyperammonemia, Hyperuricemia, Extrapyramidal dyskinesia, Thrombocytosis, S... |
ORPHA:134 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se... |
OMIM:612736 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Seizure, Gait disturbance, Myoclonus, Spastic parapare... |
ORPHA:391417 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Lower limb muscle weakness, Babinski sign, Impaired vibration sens... |
ORPHA:100989 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Seizure, Progressive external ophthalmoplegia |
ORPHA:254857 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Upper limb mus... |
ORPHA:90117 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski s... |
OMIM:146500 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Poor head control, Ataxia, Seizure, Abnormality of extrapyramidal motor function, Myoclonus, Leth... |
OMIM:614299 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Riboflavin Transporter Deficiency |
|
Bulbar palsy, Ataxia, Facial palsy, Tremor, Seizure, Hypogonadism, Myoclonus, Limb muscle weaknes... |
ORPHA:97229 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Ataxia, Left ventricular hypertrophy, Spastic tetraparesis, Babinski sig... |
ORPHA:3208 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... |
OMIM:616795 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... |
OMIM:619473 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build |
OMIM:613662 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Bipolar affective disorder, Broad-based gait, Parkinsonism... |
ORPHA:3077 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Urinary incontinence, Parkinsonism, Akinesia, Trem... |
OMIM:234200 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Citrullinemia Type I |
|
Torticollis, Ataxia, Slurred speech, Ankle clonus, Seizure, Lethargy, Spasticity |
ORPHA:247525 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Depression, Iron deficiency anemia, Hypocalcemia, Thrombocytosis |
OMIM:212750 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, ... |
OMIM:612016 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Seizure, Hypertonia, Gait disturbance, Hyperkinetic movements, Lethargy |
OMIM:236270 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Hypospadias, Ataxia, Tremor, Poor coordination, Gait disturbance, Eati... |
ORPHA:544254 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Urinary incontinence, Hand muscle weakness, Impaire... |
ORPHA:101085 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Impaire... |
OMIM:616586 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Seizure... |
ORPHA:139485 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical hemiatrophy... |
ORPHA:33445 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Dyst... |
OMIM:610217 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abn... |
ORPHA:3032 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Atrophy of the spinal cord, Focal-... |
ORPHA:395 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... |
ORPHA:542310 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Skeletal muscle hypertrophy, Gait disturbance |
ORPHA:99014 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia |
OMIM:618637 |
Behr Syndrome |
|
Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Unsteady gait, Dysmetria, Adductor lo... |
OMIM:210000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Myoclonus, ... |
ORPHA:20 |
4H Leukodystrophy |
|
Ataxia, Hypogonadotropic hypogonadism, Tremor, Dysmetria, Seizure, Progressive gait ataxia, Dysdi... |
ORPHA:289494 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, Abnorma... |
OMIM:272750 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, ... |
ORPHA:93256 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss |
ORPHA:52416 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetria, Seizure... |
OMIM:607694 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Abnormal social behavior |
ORPHA:436151 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Spastic tetraparesis, External ophthalmoplegia, Babinski sign, Gait disturbance, Loss of ... |
OMIM:615838 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Proximal muscle weakness, Fatigable weakness, Fatigable w... |
ORPHA:42 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myop... |
ORPHA:363400 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Generalized non-motor (absence) seizur... |
OMIM:617810 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Seizur... |
OMIM:618060 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Bronchiectasis, Increased circulating IgM level, Cellulitis, Decreased circulating IgG2 level, De... |
OMIM:615513 |
Gaba-Transaminase Deficiency |
|
Lethargy, Seizure |
OMIM:613163 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Opisthotonus, Tip-toe gait, Gait disturbance, Aspiration... |
ORPHA:216866 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Urinary incont... |
ORPHA:329478 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Increased circulati... |
OMIM:618982 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Urinary incontinence, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, A... |
ORPHA:306674 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Choreoathetosis, Seizure, Tetraparesis, Lethargy |
ORPHA:27 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Patent ductus arteriosus, Cerebral at... |
OMIM:614857 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Tremor, Dysmetria, Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis, Intention tremor |
OMIM:212065 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Bilateral tonic-clonic seizure, Gait imbalance, Muscle weakness |
OMIM:618120 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A... |
OMIM:615934 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ataxia, Elevated circulating creatine kinase concentration, C... |
OMIM:615673 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Centrally nucleated skeletal mus... |
OMIM:619574 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech, Nephrolithiasis |
OMIM:619827 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Loss of ambulat... |
ORPHA:2388 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Huntington Disease-Like 3 |
|
Broad-based gait, Extrapyramidal muscular rigidity, Urinary incontinence, Chorea, Flexion contrac... |
ORPHA:157946 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Limb ataxia, Impaired tandem ... |
OMIM:117360 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Dystonia, Paralysis |
OMIM:300857 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Abnormal pyramidal sign, Ataxia |
OMIM:618228 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Focal-onset seizure, Opisthotonus, Abnormality of extrapyramidal motor func... |
OMIM:605711 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Distal lower limb amyotrophy, Clasp-knife sign, Tibialis anterior muscle atrophy, Peroneal muscle... |
ORPHA:101076 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... |
ORPHA:803 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment |
OMIM:603472 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failure to thrive |
ORPHA:363717 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Generalized-onset seizure, Hypergonadotropic hypogonadism, Tremor, ... |
OMIM:619737 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Vocal cord paralysis, Muscle weakness, Hand paresthesia |
OMIM:162500 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, ... |
ORPHA:101097 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Febrile Infection-Related Epilepsy Syndrome |
|
Focal-onset seizure, Lethargy |
ORPHA:163703 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Impaired temperature s... |
ORPHA:398079 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral pneumonia |
OMIM:619773 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Choreoathetosis, Dystonia, Lethargy |
ORPHA:289916 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy, Spasticity, Seizure, Ataxia |
ORPHA:2394 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Babinski sign, Impaired vibration sensation in the lower limbs, Spinal cor... |
ORPHA:171617 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:96 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Hypogonadism, Lethargy, Decreased testicular size |
OMIM:201100 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Elbow flexion contracture, Spastic tetraparesis |
OMIM:619470 |
Sandhoff Disease, Juvenile Form |
|
Skeletal muscle atrophy, Incoordination, Ataxia, Urinary incontinence, Limb joint contracture, Ab... |
ORPHA:309162 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Lower limb m... |
ORPHA:845 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,... |
ORPHA:1170 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Clonus, Impaired pain sensation, Abnormal spinal cord morphology, Babinski sign, Spastic parapleg... |
ORPHA:139578 |
Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Periodic paralysis |
OMIM:614198 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Ige Responsiveness, Atopic |
|
Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative colitis... |
OMIM:617638 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Cryptorchidism, Depression, Seizure, Hyperkinetic movements, Gait disturbance, Microphall... |
OMIM:300957 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Depression, Seizure, Hyperkinetic movements, Upper limb s... |
ORPHA:457240 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory insufficiency due to muscle weakness, Lethargy, Muscle weakness |
OMIM:613561 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Dysmetria, Gait ataxia, Chore... |
ORPHA:101 |
Insulinoma |
|
Tremor, Generalized muscle weakness, Seizure, Paresthesia, Abnormality of pain sensation, Lethargy |
ORPHA:97279 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Fasciculations |
ORPHA:324581 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Lethal Congenital Contracture Syndrome 7 |
|
Facial diplegia, Paralysis |
OMIM:616286 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity |
ORPHA:2828 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Choreoathetosis, Lethargy, Seizure, Dystonia |
ORPHA:79312 |
Sialidosis Type 2 |
|
Hepatomegaly, Skeletal muscle atrophy, Ataxia, Tremor, Splenomegaly, Flexion contracture, Nephrop... |
ORPHA:87876 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Urinary incontinence, Hoffma... |
OMIM:601162 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Ataxia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukoc... |
OMIM:615688 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Increased circulating IgE level, Chronic mucocutaneous can... |
ORPHA:98813 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Generalized-onset seizure, Tremor, Inability to walk, Fo... |
ORPHA:228360 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Autosomal Dominant Spastic Paraplegia Type 41 |
|
Lower limb spasticity, Proximal muscle weakness, Spinal cord lesion, Seizure, Spastic gait, Progr... |
ORPHA:320355 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Episodic flaccid weakness, Respiratory paralysis, Late-onset proximal muscle weakness,... |
ORPHA:681 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Increased ... |
OMIM:610163 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Ataxia, Facial palsy, Foot joint contracture, Achilles tendon contracture, Aplasia/... |
ORPHA:456312 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Infantile spasms, Chorea, Ophthalmoplegia, Spastic tetraplegia, Gai... |
OMIM:618321 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Myelopathy, Abnormal spinal cord morphology,... |
ORPHA:139396 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Bulbar palsy, Somatic sensory dysfunction, Pa... |
ORPHA:99857 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomotor apraxia |
OMIM:614867 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir... |
ORPHA:713 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... |
OMIM:312080 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Broad-based gait, Distal muscle weakness, Limb muscle weakness, Gait ataxia, Distal sensory impai... |
OMIM:614895 |
Trisomy X |
|
Tremor, Seizure, Secondary amenorrhea, Depression |
ORPHA:3375 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Limb tremor, Focal dystonia, Myo... |
ORPHA:420492 |
Crigler-Najjar Syndrome |
|
Lethargy, Seizure, Ophthalmoparesis |
ORPHA:205 |
Typhoid |
|
Tremor, Lethargy, Hypertonia, Ataxia |
ORPHA:99745 |
Cerebral Cavernous Malformations 3 |
|
Seizure, Paralysis |
OMIM:603285 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Flexion contracture, Dysmetria, Gait ataxia, Distal sensory impair... |
OMIM:616505 |
Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... |
OMIM:619790 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Abnormality of t... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal amyotrophy, Distal sensory impairment |
OMIM:607734 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Autoerythrocyte Sensitization Syndrome |
|
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Depression, Emotional lability, Thr... |
ORPHA:324636 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinem... |
OMIM:300400 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,... |
ORPHA:79254 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
OMIM:613313 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... |
OMIM:308230 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Deafness, Neural, With Atypical Atopic Dermatitis |
|
Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Hypoglycemic seizures, Status epilepticus, Muscle weakness |
ORPHA:276580 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Progressive external ophthalmoplegia, Distal muscle weakn... |
ORPHA:276244 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent otitis media,... |
OMIM:613502 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Tremor, Gait disturbance, Spastic... |
ORPHA:100 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Ataxia, Weight loss |
ORPHA:391 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Seizure, Spasticity, Paroxysmal bursts of laughter, Muscle weakness |
OMIM:618718 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Irritability, Abnormality... |
ORPHA:848 |
Foix-Alajouanine Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Dysesthesia, Mye... |
ORPHA:79093 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Dysgammaglobulinemia, Elevated circulating C-reactive protein concentration, Reduced natural kill... |
OMIM:308240 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Flexion contracture, Myopathy, Gait disturbance |
ORPHA:157973 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Clumsiness, Abnormal circulating creatine kinase concentration, Steppage gait, Fasciculations, Ab... |
ORPHA:521411 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia,... |
OMIM:254900 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Increased circulating IgE level, Bronchiectasis, Macroglossia, Recurrent otiti... |
OMIM:618523 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spas... |
OMIM:612438 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Seizure, Ataxia, Paraplegia |
ORPHA:927 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Maple Syrup Urine Disease |
|
Lethargy, Hypertonia, Ataxia, Seizure |
OMIM:248600 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Glutathionuria |
|
Urinary incontinence, Tremor, Dysdiadochokinesis, Glutathionuria, Action tremor |
OMIM:231950 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Decreased circulating IgG level, Crohn's disease, Increased ... |
OMIM:615767 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Oculogyric crisis, Hy... |
ORPHA:1578 |
Ogden Syndrome |
|
Torticollis, Cryptorchidism, Hypertonia, Shuffling gait, Lethargy |
ORPHA:276432 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U... |
ORPHA:466768 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
Mitochondrial Trifunctional Protein Deficiency |
|
Progressive distal muscle weakness, Babinski sign, Generalized muscle weakness, Seizure, Tip-toe ... |
ORPHA:746 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Progressive neurologic deterioration, Tremor, Hypertonia, Gait disturbance, Anemia |
ORPHA:1192 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
Medulloblastoma |
|
Total ophthalmoplegia, Ataxia, Spinal cord tumor, Dysmetria, Progressive cerebellar ataxia, Letha... |
ORPHA:616 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Truncal ataxia, Gait ataxia, Dystonia, Arthrogryposis multiplex ... |
ORPHA:85278 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Bronchi... |
OMIM:619220 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... |
ORPHA:99965 |
Spinocerebellar Ataxia Type 3 |
|
Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, ... |
ORPHA:98757 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Gait ataxia, Titubation, Head tremor |
ORPHA:98771 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Seizure, Tetraparesis |
ORPHA:140989 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Decreased circulating antibody level, Gait disturbance... |
ORPHA:2585 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, ... |
ORPHA:478 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Seizure, Ataxia |
OMIM:237300 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hypogonadotropic hypogonadism, Apathy, Infertility, Erectile dysfunction, Lethargy, Testicular at... |
ORPHA:465508 |
Biotinidase Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Myelopathy, Focal motor seizure, Seizur... |
ORPHA:79241 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Seizure |
OMIM:237310 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, External ophthalmoplegia, Choreoathetosis, Seizure, Dystonia, Muscle weakness |
OMIM:619422 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:86893 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Bulbar palsy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Generaliz... |
OMIM:211530 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Urinary incontinence, Akinesia, Rigidity, Babinski sign, Ga... |
ORPHA:247234 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Impaired temperature sensation, Precocious puberty, C... |
ORPHA:398069 |
Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Distal sensory impairment |
OMIM:616287 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Failure to thrive |
OMIM:619556 |
Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy |
ORPHA:100024 |
Multifocal Atrial Tachycardia |
|
Cryptorchidism, Lethargy |
ORPHA:3282 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Seizure, Muscle weakness |
ORPHA:820 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria |
ORPHA:1933 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Depression, ... |
ORPHA:10 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ... |
OMIM:619092 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Leth... |
OMIM:143880 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Neuro... |
OMIM:256600 |
Central Diabetes Insipidus |
|
Lethargy, Seizure, Depression |
ORPHA:178029 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight ... |
ORPHA:298 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Seizure, Ataxia |
ORPHA:79242 |
Glioblastoma |
|
Seizure, Muscle weakness, Paralysis |
ORPHA:360 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Seizure |
OMIM:619386 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Seizure |
OMIM:610006 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D... |
OMIM:614381 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Ankle flexion contracture, Tremor, Splenomeg... |
OMIM:608799 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:230800 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Seizure, Focal impaired awareness seizure, Lethargy, Limb hypertonia |
OMIM:620306 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Machado-Joseph Disease Type 1 |
|
Progressive external ophthalmoplegia, Facial-lingual fasciculations, Babinski sign, Abnormal pyra... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Progressive external ophthalmoplegia, Facial-lingual fasciculations, Babinski sign, Abnormal pyra... |
ORPHA:276241 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Osteomyelitis, Recurrent skin infections, Eczema, Recurrent pneumonia, Increased circulating IgE ... |
OMIM:618282 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ataxia, External ophthalmoplegia, Abnormal pyramidal sign, Seizure, Lethargy |
OMIM:201470 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, H... |
OMIM:619487 |
Japanese Encephalitis |
|
Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Facial palsy, Paralysis... |
ORPHA:79139 |
Rhabdoid Tumor |
|
Cerebral palsy, Weight loss, Hematuria, Neoplasm of the liver, Hemiplegia |
ORPHA:69077 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Increased circulating IgE l... |
ORPHA:277 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specifi... |
OMIM:617241 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,... |
OMIM:617675 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Babinski sign, Clumsiness, Gait ataxia, Abnormal social behavior, Progressive gait ataxia, Tip-to... |
ORPHA:309256 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Simple febrile se... |
ORPHA:1942 |
Metachromatic Leukodystrophy, Adult Form |
|
Chorea, Babinski sign, Clumsiness, Abnormal social behavior, Progressive spastic quadriplegia, Pr... |
ORPHA:309271 |
Brucellosis |
|
Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism... |
ORPHA:1304 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Neutrophilic infiltration of the skin, Skin rash, Lipodystrophy, Increased circulating IgA level,... |
OMIM:618048 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Status epilepticus, Hypoglycemic seizures |
ORPHA:276556 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Bronchiectasis, Increased circulating IgG level, Increased circu... |
OMIM:618534 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hemiplegia/hemiparesis, Seizure, Lethargy |
ORPHA:156 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Shyness, Tremor, Cryptorchidism, Micropenis, Spasticity, Decreased... |
OMIM:300978 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Weight loss |
ORPHA:2198 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Mental deteriorat... |
ORPHA:79095 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Periodic paralysis |
OMIM:613345 |
Idiopathic Intracranial Hypertension |
|
Focal sensory seizure with olfactory features, Lethargy, Depression |
ORPHA:238624 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy |
OMIM:610498 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Tremor, Cryptorchidism, Gait ataxia, Seizure, Hypogonadism, Micropenis, Decreased te... |
OMIM:300354 |
Interstitial Lung And Liver Disease |
|
Anemia, Thrombocytosis, Intraalveolar phospholipid accumulation, Hyperammonemia |
OMIM:615486 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Choreoathetosis, Gait disturbance, Dystonia, Spas... |
ORPHA:702 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Dysmetria, Gait ataxia, Seizure, Status epilepticus, Diff... |
ORPHA:529665 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Status epilepticus, Hypoglycemic seizures |
ORPHA:276575 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Muscle weakness, Periodic paralysis |
OMIM:170400 |
Encephalitis Lethargica |
|
Parkinsonism, Tremor, Upper limb muscle weakness, Seizure, Lethargy |
ORPHA:83600 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Atopic dermatiti... |
OMIM:619752 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... |
ORPHA:391428 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery mor... |
ORPHA:284 |
Propionic Acidemia |
|
Lethargy, Dystonia, Seizure, Limb hypertonia |
OMIM:606054 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... |
OMIM:616840 |
Scrub Typhus |
|
Tremor, Lethargy, Seizure |
ORPHA:83317 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Gait apraxia, Truncal ataxia, Gait ataxia, Dystonia, Spasticity |
OMIM:312750 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti... |
OMIM:245200 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation |
ORPHA:2047 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Joint contracture, Dystonia, Spasti... |
OMIM:617664 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Babinski sign, Clumsiness, Abnormal social behavior, Seizure, Progressive gait ataxia, Decerebrat... |
ORPHA:309263 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Nephrotic range proteinuria, Tremor, Oromotor apraxia, Failure to ... |
ORPHA:300536 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Lethargy, Seizure, Dystonia |
OMIM:277410 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Seizure, Poor head control, Abnormal social behavior |
ORPHA:444002 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Confusion, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatospleno... |
ORPHA:3260 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Bronchiectasis, Decreased circulating antibody level, Arthritis, Increased circulating... |
ORPHA:397596 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Camptodactyly of finger, Tremor, Splenomegaly, Aplasia/Hypoplasia o... |
ORPHA:354 |
Poliomyelitis |
|
Bulbar palsy, Paralysis, Paraparesis, Inability to walk, Upper limb muscle weakness, Hyperkinetic... |
ORPHA:2912 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis, Esophagitis, Hiatus hernia |
ORPHA:71272 |
L-2-Hydroxyglutaric Aciduria |
|
Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis |
ORPHA:79314 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilic infiltration of the esophagus, Recurrent pneumonia, Increased circulating Ig... |
OMIM:243700 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Seizure, Hyperton... |
OMIM:617710 |
Porphyria, Acute Intermittent |
|
Paralysis, Depression, Seizure, Respiratory paralysis, Paresthesia, Muscle weakness |
OMIM:176000 |
Carnitine Deficiency, Systemic Primary |
|
Lethargy, Muscle weakness, Proximal muscle weakness |
OMIM:212140 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased circulating total IgM, Recurrent sinusitis, Decreased specific... |
OMIM:617765 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Ataxia, Tremor, Ragged-red muscle fibers, Nephrotic syndrom... |
OMIM:607426 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Paresthesia |
ORPHA:49827 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Seizure, Impotence... |
OMIM:105210 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Decreased circulating antibody level |
ORPHA:99811 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Speech apraxia, Impaired vibratory sensation, Clonus, Poor coordination, Abnormal pyramidal sign,... |
ORPHA:415 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Tremor, Vocal cord paralysis, Seizu... |
ORPHA:397744 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy, Methylmalonic aciduria, Dysmetria |
OMIM:615578 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Spleno... |
ORPHA:812 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Dystonia, Ataxia, Waddling gait, Tre... |
OMIM:615356 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Recurrent pneumonia, Increased circulating IgE level, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Impaired vibration sensation in the ... |
ORPHA:88628 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Seizure, Opisthotonus |
OMIM:210200 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism |
ORPHA:494 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tremor, Lethargy, Seizure |
ORPHA:263455 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Increased circulating IgE level, Scarring |
ORPHA:89843 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Tremor, Cryptorchidism, Azoospermia, Seizure, Hypogonadism, I... |
ORPHA:96263 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Hypoglycemic seizures |
ORPHA:324575 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... |
ORPHA:217390 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Fatal Familial Insomnia |
|
Urinary retention, Myoclonus, Ataxia, Weight loss |
OMIM:600072 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypospadias, Cryptorchidism, Lethargy, Micropenis |
OMIM:607143 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy, Seizure, Tongue fasciculations, Myoclonus |
OMIM:614922 |
Citrullinemia Type Ii |
|
Tremor, Mania, Seizure, Lethargy, Delayed menarche |
ORPHA:247585 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Tremor, Babinski sign, Abnormal pyramidal si... |
ORPHA:447753 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis, Weight loss |
OMIM:613239 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Skin rash, Maculopapular... |
ORPHA:540 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Hand muscle weakness, Tremor, Inability to walk, Vocal c... |
ORPHA:99956 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Poor head control, Ataxia, Hypospadias, Bilateral tonic-clonic seizure, Babinski sign, Tongue fas... |
OMIM:252010 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Seizure, Micropenis, Bipolar affective disorder |
ORPHA:370079 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly... |
ORPHA:94080 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia |
ORPHA:2905 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:28 |
Isovaleric Acidemia |
|
Lethargy, Seizure |
OMIM:243500 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Inability to walk, Hyp... |
OMIM:616801 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration... |
OMIM:274150 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Abnormal circula... |
OMIM:241600 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Increased circulating IgE level |
OMIM:616069 |
Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
Evans Syndrome |
|
Lethargy, Muscle weakness |
ORPHA:1959 |
East Syndrome |
|
Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficulty walking, Hy... |
ORPHA:199343 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Seizure |
OMIM:600649 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:42642 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy, Lower limb hypertonia, Seizure |
ORPHA:2169 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma... |
OMIM:209920 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal socia... |
ORPHA:1020 |
Chédiak-Higashi Syndrome |
|
Tremor, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremi... |
ORPHA:167 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Hypochromic anemia, Thrombocytosis, Spasticity |
OMIM:618213 |
Ataxia-Telangiectasia |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ... |
OMIM:208900 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Agammaglob... |
OMIM:300755 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Weight loss |
ORPHA:545 |
Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Arthritis, Increased circulating IgM level, Conjunctivitis, I... |
ORPHA:448237 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Poor coordination, Axonal degeneration, Neurodegeneration, Myoclonic spasms, Diffuse cerebellar a... |
ORPHA:478029 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Ankle weakness, Respiratory ... |
ORPHA:600 |
Pseudohypoaldosteronism Type 2 |
|
Muscle weakness, Periodic paralysis |
ORPHA:757 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Generalized-onset seizure, Paralysis, Focal-onset seizure, Depression, Status epilepticus |
ORPHA:83601 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Flexion contracture,... |
ORPHA:144 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Superficial Siderosis |
|
Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of the spinal cord, Abno... |
ORPHA:247245 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis |
OMIM:618985 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Bilateral tonic-clonic seizure, Muscle weakness |
OMIM:201475 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis, Weight loss |
OMIM:188580 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Limb myoclonus, Febrile seiz... |
ORPHA:64280 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Seizure |
OMIM:618232 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, Primary amenorrhea, D... |
ORPHA:502423 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Eosinophilic Fasciitis |
|
Myositis, Muscular edema, Paresthesia, Weight loss |
ORPHA:3165 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Transcobalamin Ii Deficiency |
|
Lethargy, Ataxia, Muscle weakness |
OMIM:275350 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Babinski sign, Flexion contracture, Facial diplegia, Dystonia, ... |
OMIM:618186 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Shyness, Tremor, Cryptorchidism, Azoospermia, Seizure, Hypogo... |
ORPHA:96264 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Babinski sign, Hypertonia, Arm dystonia, Neurodegeneration |
ORPHA:79244 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy |
OMIM:619064 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal spinal cord morphology, Diap... |
ORPHA:83597 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Decreased circu... |
OMIM:242840 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Dystonia, Tremor, Splenomegaly, Jaundice, Unsteady gait, Myopathy, Chole... |
OMIM:615512 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Hemiplegia/hemiparesis, Flexion contracture,... |
ORPHA:440437 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Flexion contracture, Ataxia, Decreased body weight |
OMIM:278760 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Cerebral palsy, Seizure, Opisthotonus |
OMIM:210210 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Bilateral tonic-clonic seizure... |
OMIM:617988 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Seizure |
OMIM:616483 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Generalized-onset seizure, Facial pa... |
ORPHA:297 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A... |
ORPHA:1454 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Seizure, Muscle weakness |
OMIM:212138 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Ataxia, Facial palsy, Tremor, Weight loss, Distal amyotrophy, Difficulty wal... |
OMIM:164310 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Abnormal immunoglobulin level, Recurre... |
ORPHA:276 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
External genital hypoplasia, Paralysis |
OMIM:242100 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Generalized-onset seizure, Hypospadias, Cryptorchidism, Athetosis, Seizure, Lethargy, Clitoral hy... |
OMIM:614866 |
Early Infantile Epileptic Encephalopathy |
|
Poor head control, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
ORPHA:1934 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Infantile spasms, Tremor, Cryptorchidism, Seizure, Hypertonia |
OMIM:608093 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Fasciculations, Brain a... |
OMIM:620327 |
Trichinellosis |
|
Facial palsy, Ophthalmoplegia, Babinski sign, Hemiparesis, Apathy, Hemiplegia, Lethargy, Muscle w... |
ORPHA:863 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Meningococcal Meningitis |
|
Lethargy, Seizure, Paresthesia |
ORPHA:33475 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Lethargy, Depression, Clumsiness |
ORPHA:90674 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concentration, Increased circul... |
OMIM:617099 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Precocious puberty in females, Infantile spasms, Tremor, Inability to w... |
ORPHA:72 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy, Hypertonia, Seizure |
OMIM:253270 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Episodic ataxia, Lethargy, Seizure, Ataxia |
OMIM:311250 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Limb dystonia |
OMIM:604377 |
Schnitzler Syndrome |
|
Arthritis, Skin rash, Increased circulating IgM level |
ORPHA:37748 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Neurodegeneration, Brain atrophy |
OMIM:214150 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Ophthalmoparesis, Episodic flaccid weakness, Hyp... |
ORPHA:682 |
Isolated Complex I Deficiency |
|
Lethargy, Poor head control, Ataxia, Muscle weakness |
ORPHA:2609 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb... |
ORPHA:646 |
Medullary Thyroid Carcinoma |
|
Weight loss, Abnormal liver parenchyma morphology |
ORPHA:1332 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy, Seizure |
ORPHA:2089 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Bronchiectasis, Decreased circulating antibo... |
OMIM:616100 |
Biotinidase Deficiency |
|
Lethargy, Seizure, Ataxia |
OMIM:253260 |
Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Periodic hyperkalemic paralysis |
OMIM:170500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Seizure |
OMIM:255120 |
Lamb-Shaffer Syndrome |
|
Seizure, Abnormal social behavior, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
Adrenomyeloneuropathy |
|
Dysesthesia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Babinski sign, Progress... |
ORPHA:139399 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Hyperammonemia, Infectious encephalitis, Cerebral c... |
ORPHA:1194 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hepa... |
OMIM:277900 |
Congenital Myopathy 15 |
|
Waddling gait, Vocal cord paralysis, Muscle weakness |
OMIM:620161 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Urinary incontinence, Dystonia, Tremor, Abnormal gallbladder morphology, ... |
ORPHA:512 |
Methylmalonic Aciduria, Cbla Type |
|
Tremor, Lethargy, Seizure |
OMIM:251100 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogammaglobulinemia,... |
OMIM:307200 |
Nipah Virus Disease |
|
Tremor, Infectious encephalitis |
ORPHA:99825 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Seizure |
OMIM:201450 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, 3-Methylglutaconic aciduria, ... |
OMIM:616271 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:26790 |
Citrullinemia, Classic |
|
Lethargy, Seizure, Ataxia |
OMIM:215700 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Failure to thrive, Ketonuria, Ataxia, Weight loss, Renal tubular dysfunction, Lower-limb... |
ORPHA:99885 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro... |
OMIM:214500 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Renal Hypoplasia, Bilateral |
|
Cryptorchidism, Lethargy |
ORPHA:97362 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Ataxia, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellula... |
ORPHA:549 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Somatic sensory dysfunction, Jaundice, Weight loss, Lower ... |
ORPHA:370348 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Elbow flexion contracture, Spastic tetraplegia, Knee flexion contractu... |
ORPHA:371364 |
Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Cerebellar edema, Infectious encephalitis, Global... |
ORPHA:363558 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Decreased lymphocyte proliferation in response to anti-CD3, Incr... |
OMIM:606367 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Seizure, Muscle weakness |
ORPHA:159 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Majeed Syndrome |
|
Hepatomegaly, Failure to thrive, Proteinuria, Cachexia, Splenomegaly, Flexion contracture, Weight... |
ORPHA:77297 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Thyroidit... |
OMIM:617388 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Arthri... |
ORPHA:2137 |
Netherton Syndrome |
|
Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating IgE level, Chronic rh... |
OMIM:256500 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss |
ORPHA:83469 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Amoebiasis Due To Free-Living Amoebae |
|
Ataxia, Facial palsy, Abnormal spinal cord morphology, Hemiparesis, Seizure, Oculomotor nerve pal... |
ORPHA:68 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Limb muscle weakness, Paralysis |
OMIM:612300 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Inability to walk, Broad-based gait, Vocal cord paralysis, Muscle weakness |
OMIM:615490 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Macroglossia, Decreased ci... |
OMIM:242860 |
Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Weight loss |
ORPHA:33276 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Wolfram Syndrome 1 |
|
Tremor, Seizure, Testicular atrophy, Ataxia |
OMIM:222300 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Tetanus |
|
Elevated circulating creatine kinase concentration, Tremor, Rigidity, Opisthotonus, Hypertonia, S... |
ORPHA:3299 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Shoulder girdle mu... |
ORPHA:206436 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rhinitis, Recurrent ski... |
ORPHA:443811 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Abnormal skeletal muscle morphology, Weight loss |
ORPHA:142 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Weight loss |
ORPHA:1842 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration |
OMIM:616239 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Seizure |
OMIM:617397 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Weight loss |
ORPHA:654 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Myoclonic seizure, Cervical myelopathy, Seizur... |
OMIM:617186 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Premature ovarian insufficiency, Muscle weakness, Seizure |
ORPHA:199299 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Abnormal central motor function, Paralysis, Sei... |
ORPHA:3385 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Tremor, Lethargy, Seizure, Abnormality of extrapyramidal motor function |
OMIM:277400 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... |
OMIM:619377 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Hypertonia, Cachexia |
ORPHA:1389 |
Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:276621 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Patent ductus arteriosus, Recurrent pneumonia, Flexion contracture, Increased ... |
OMIM:617303 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
Whipple Disease |
|
Hepatomegaly, Myositis, Ataxia, Cachexia, Splenomegaly, Abnormal pyramidal sign, Myoclonus |
ORPHA:3452 |
Alexander Disease |
|
Ataxia, Clonus, Facial palsy, Tremor, Precocious puberty, Chorea, Abnormal pyramidal sign, Tetrap... |
ORPHA:58 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Increased circulating IgG level, Lymphocytic interstitial pneumonia |
OMIM:618495 |
Sézary Syndrome |
|
Splenomegaly, Hepatomegaly, Tremor, Skeletal muscle atrophy |
ORPHA:3162 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:507 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypoproteinemia, Hypertriglyceridemia, Ata... |
OMIM:267700 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Gait disturbance, Nephropathy |
ORPHA:2774 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Infantile spasms, Atrophy of the spinal cord, Poor fine motor coordination, Seizure, Leth... |
ORPHA:79282 |
Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Poor head control, Multifocal seizures, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis... |
ORPHA:572798 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hypertriglyceridemia, Skin rash, Ataxia, Reduced natural killer ce... |
OMIM:603553 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a... |
OMIM:616878 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
Avian Influenza |
|
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:454836 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Mcdonough Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia |
ORPHA:2471 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy |
OMIM:611590 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Inhalational Botulism |
|
Muscle weakness, Paralysis |
ORPHA:254504 |
Sandhoff Disease |
|
Hepatomegaly, Exaggerated startle response, Skeletal muscle atrophy, Ataxia, Urinary incontinence... |
OMIM:268800 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, St... |
ORPHA:101330 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ectopic kidney, Tremor, Abnormality of the spleen, Renal hypoplasia, Hor... |
ORPHA:94063 |
Argininosuccinic Aciduria |
|
Lethargy, Seizure, Ataxia |
OMIM:207900 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti... |
ORPHA:25 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Ataxia, Allergic rhinitis, Eczema, Increased circulatin... |
OMIM:615816 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of the gallbladder, Hep... |
ORPHA:171 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Seizure |
OMIM:229700 |
Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss |
ORPHA:99868 |
Hyperlysinemia |
|
Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spa... |
ORPHA:2203 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Tremor, Paralysis, Abnormal muscle fiber morphology, Rhabdomyolysis,... |
ORPHA:79102 |
Boutonneuse Fever |
|
Skin rash, Increased circulating IgG level, Maculopapular exanthema, Increased circulating IgM level |
ORPHA:83313 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Generalized muscle weakness |
OMIM:609015 |
Polymyositis |
|
Hepatomegaly, Abnormal muscle fiber morphology, Gait disturbance, Weight loss |
ORPHA:732 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Nocturia, Hepatosplenomegaly, Weight loss, Tubulo... |
ORPHA:85450 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Myelopathy, Babinski sign, Vocal cord paralysis, Gait a... |
ORPHA:268882 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... |
ORPHA:91347 |
Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... |
ORPHA:447788 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Skele... |
OMIM:256040 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Increased circulating IgA level, Peritonitis, Arthritis, Recurrent aphthous stomatitis |
ORPHA:343 |
Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Erythroderma |
OMIM:270300 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Hypospadias, Cachexia |
ORPHA:3242 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy, Incoordination |
OMIM:277380 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Generalized muscle weakness, Seizure, Paresthesia, Muscle weakness |
OMIM:263800 |
Cholera |
|
Lethargy, Seizure, Muscle weakness |
ORPHA:173 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Pineoblastoma |
|
Lethargy, Seizure, Paralysis |
ORPHA:251909 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... |
ORPHA:91139 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Seizure, Lethargy |
OMIM:307030 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Histiocytoid Cardiomyopathy |
|
Hemiplegia, Lethargy, Seizure, Polycystic ovaries |
ORPHA:137675 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Broad-based gait, Camptodactyly of finger, Cachexia, Tremor, Obesity |
ORPHA:85293 |
Netherton Syndrome |
|
Skin rash, Eczema, Increased circulating IgE level, Decreased circulating antibody level, Erythro... |
ORPHA:634 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Hepatic failure, Cachexia |
ORPHA:75233 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Seizure |
OMIM:608836 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Flexion contracture of toe, Camptodactyly of finger |
ORPHA:3409 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Lower limb spasticity, Proteinu... |
ORPHA:90321 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Liver abscess, Weight loss |
ORPHA:54251 |
Serotonin Syndrome |
|
Clonus, Tremor, Rigidity, Rhabdomyolysis, Hypertonia, Myoclonus, Hepatic failure, Acute kidney in... |
ORPHA:43116 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:3226 |
Giant Cell Arteritis |
|
Renal insufficiency, Ataxia, Weight loss, Hematuria, Paresthesia, Hepatic failure |
ORPHA:397 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Seizure, Periodic... |
ORPHA:37553 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy |
OMIM:251000 |
Paramyotonia Congenita Of Von Eulenburg |
|
Cold paresis, Periodic hypokalemic paresis |
ORPHA:684 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
Von Hippel-Lindau Syndrome |
|
Papillary cystadenoma of the epididymis, Spinal hemangioblastoma, Epididymal cyst |
OMIM:193300 |
Neurocutaneous Melanocytosis |
|
Aplasia/Hypoplasia of the cerebellum, Chiari malformation, Infectious encephalitis, Dandy-Walker ... |
ORPHA:2481 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the ureter, Cachexia |
ORPHA:1133 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level |
ORPHA:90368 |
Mercury Poisoning |
|
Tremor, Hypokalemia, Confusion, Dystonia |
ORPHA:330021 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Clonus, Tremor, Type 1 fibers relatively smaller than type 2 fibers |
OMIM:619424 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168811 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Hypospadias, Tremor, Cryptorchidism, Seizure, Intention tremor |
OMIM:614052 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Tremor, Abnormality of the pancreas, Ja... |
ORPHA:69665 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Skin rash, Eczema, Increased circulating IgE level, Cellulitis, Chronic otitis media |
ORPHA:2314 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Weight loss, Distal ... |
OMIM:603041 |
Dengue Fever |
|
Lethargy |
ORPHA:99828 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephritis, Interstiti... |
ORPHA:139402 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:29072 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma |
OMIM:304790 |
Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Hepatitis, Weight loss |
ORPHA:47 |
Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Bronchiectasis, Decreased circu... |
OMIM:616005 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
Acute Intermittent Porphyria |
|
Proximal muscle weakness in upper limbs, Somatic sensory dysfunction, Distal muscle weakness, Tre... |
ORPHA:79276 |
Hydranencephaly |
|
Lethargy, Seizure, Spastic diplegia, Opisthotonus |
ORPHA:2177 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Increased circulating IgA level, Increased circulating IgE level, ... |
ORPHA:3261 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Cirrhosis, Glycosuria, Spasticity, ... |
OMIM:616539 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Flexion contracture, Cachexia, Weight loss |
ORPHA:1979 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Myositis, Proteinuria, Hemiplegia/hemiparesis, Weight loss, Hematuria, Tubul... |
ORPHA:183 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Vocal cord paralysis, Seizure, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy |
ORPHA:36238 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Anemia, Abnormality of extrapyramidal motor function, Dy... |
OMIM:612199 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy, Seizure |
ORPHA:79284 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, I... |
OMIM:615508 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Hyperammonemia,... |
OMIM:610505 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Cachexia |
ORPHA:2930 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Weight loss |
ORPHA:2221 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Vocal cord paralysis, Weight loss |
ORPHA:221098 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Atopic dermatitis, Elevated circulating C-reactive protein conce... |
ORPHA:2902 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Hypoglycemic seizures |
ORPHA:71212 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Tremor, Abnormal pyramidal... |
ORPHA:3008 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Abnormality of neutrophil physiology, Imp... |
ORPHA:2968 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Poor head control, Ataxia, Bilateral tonic-clonic seizure, Inability to wa... |
OMIM:617799 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Inability to walk, Oromotor apraxia, Depression, Seizure, Apathy... |
ORPHA:220386 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Lower limb spasticity, Spastic tetraparesis, Splenomegaly, Hepatitis, Tetraplegia, ... |
OMIM:615846 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hypersplenism, Weight loss, Hepatosplenomegaly, Decreased liver function |
ORPHA:98850 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Patent ductus arteriosus, Flexion contracture, Increased circulating IgM level... |
ORPHA:505248 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Spastic tetraplegia, Neurodegeneration, Spasticity |
OMIM:618476 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
Hartnup Disease |
|
Skin rash, Infectious encephalitis, Ataxia |
ORPHA:2116 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hemiparesis, Lethargy |
OMIM:620233 |
Cysticercosis |
|
Calcification of muscles, Ataxia, Iridocyclitis, Abnormal skeletal muscle morphology, Increased c... |
ORPHA:1560 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard... |
ORPHA:781 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Ataxia, Pneumonia, Pustule, Myocarditis, Peritonitis, Tremor, Rhabdo... |
ORPHA:533 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Progressive gait ataxia, Hypertonia, Congenital co... |
ORPHA:191 |
Erdheim-Chester Disease |
|
Renal insufficiency, Ataxia, Dysuria, Retroperitoneal fibrosis, Weight loss, Hydronephrosis |
ORPHA:35687 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
Doors Syndrome |
|
Thrombocytosis, Myoclonus |
ORPHA:79500 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Generalized myoclonic se... |
ORPHA:2072 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Neoplasm of the liver, Urinary retention, Weight loss |
ORPHA:2126 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Hyperammonemia, Hypoalbuminemia, Infectious encephalitis |
ORPHA:292 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Cholestasis, Weight loss |
ORPHA:95427 |
Necrotizing Enterocolitis |
|
Lethargy |
ORPHA:391673 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ... |
ORPHA:314647 |
Fg Syndrome Type 1 |
|
Broad-based gait, Hypospadias, Cryptorchidism, Seizure, Abnormal social behavior |
ORPHA:93932 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Renal... |
ORPHA:275761 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Inability to walk, Recurrent pneumonia, Increased circulating IgE level, Elbow flexion contractur... |
ORPHA:508533 |
Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Neurodegeneration |
OMIM:615919 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Seizure, Ataxia, Muscle weakness |
ORPHA:466650 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Depression |
ORPHA:99832 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Uveitis |
ORPHA:91546 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens, ... |
OMIM:137920 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Abnormal liver lobulation, Cystic renal dysplasia, Horseshoe kidney |
OMIM:608022 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Ataxia, Paralysis, Hypertonia, Status epilepticus, Myoclonus, Tetra... |
OMIM:203700 |
Riddle Syndrome |
|
Ataxia, Clumsiness, Weight loss, Enuresis nocturna, Gait disturbance, Poor hand-eye coordination |
ORPHA:420741 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Abnormality of t... |
ORPHA:85443 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:26793 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Renal insufficiency, Oliguria, Weight loss |
ORPHA:188 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:47612 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... |
ORPHA:2552 |
Camurati-Engelmann Disease |
|
Waddling gait, Hepatomegaly, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Splenomegal... |
ORPHA:1328 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Behçet Disease |
|
Renal insufficiency, Myositis, Ataxia, Splenomegaly, Abnormal pyramidal sign, Weight loss, Hemipa... |
ORPHA:117 |
Glycine Encephalopathy |
|
Generalized myoclonic seizure, Lethargy, Seizure |
ORPHA:407 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100080 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight loss |
ORPHA:729 |
Yao Syndrome |
|
Nephrolithiasis, Weight loss |
OMIM:617321 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia, Pneumonia, Otitis media |
OMIM:602450 |
Methylmalonic Aciduria, Cblb Type |
|
Lethargy |
OMIM:251110 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Extrapyramidal muscular rigidity, Dystonia, Multiple joi... |
ORPHA:51 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Infectious encephalitis |
ORPHA:3386 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Seizure, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Increased circulating IgG level, Increased circulating IgM level, ... |
ORPHA:319251 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Von Hippel-Lindau Disease |
|
Papillary cystadenoma of the epididymis, Upper limb muscle weakness, Distal lower limb muscle wea... |
ORPHA:892 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Hypogonadotropic hypogonadism |
ORPHA:226307 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Hereditary Fructose Intolerance |
|
Lethargy, Seizure |
ORPHA:469 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Lymphadenitis, Arthritis, Chronic oral candidiasis, I... |
OMIM:260920 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Asplenia, Horseshoe kidney, Multiple renal cysts, A... |
ORPHA:99776 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Increased circulating IgE level, Increased LD... |
ORPHA:330015 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Weight loss |
ORPHA:97289 |
Reynolds Syndrome |
|
Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis |
ORPHA:779 |
Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Poor coordination, Fai... |
OMIM:610965 |
Marburg Hemorrhagic Fever |
|
Orchitis, Dysesthesia, Atypical absence status epilepticus, Seizure, Lethargy |
ORPHA:99826 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Conjugated hyperbilirubinemia, Hepatitis, Gastrointestinal infla... |
ORPHA:186 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Spasticity, Ataxia, Cachexia |
ORPHA:220295 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Lower limb muscle weakness, Increased circulating IgG4 level, Elevated circulating C-r... |
ORPHA:449427 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Abnormal spleen physiology, Weight loss |
ORPHA:398063 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Peritonitis, Atypical scarri... |
ORPHA:228123 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss |
ORPHA:100082 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Incontinentia Pigmenti |
|
Skin rash, Abnormal dental enamel morphology, Camptodactyly of finger, Keratitis, Uveitis, Gait d... |
ORPHA:464 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Hepatic failure, Weight loss |
ORPHA:97287 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Skin rash, Pneumonia, Decreased circulating complement ... |
ORPHA:2298 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Micropenis |
OMIM:613673 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Familial Glucocorticoid Deficiency |
|
Renal salt wasting, Tetraplegia, Weight loss, Hypernatriuria, Failure to thrive |
ORPHA:361 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle flexion cont... |
ORPHA:2020 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Floating-Harbor Syndrome |
|
Speech apraxia, Broad-based gait, Hypospadias, Precocious puberty, Cryptorchidism, Seizure, Epidi... |
ORPHA:2044 |
Wiskott-Aldrich Syndrome |
|
Eczema, Increased circulating IgA level, Reduced natural killer cell activity, Recurrent pneumoni... |
OMIM:301000 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Weight loss |
ORPHA:90060 |
Familial Hypoaldosteronism |
|
Lethargy |
ORPHA:427 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Generalized-onset seizure, Hypospadias, Testicular neoplasm, Spina bifida, Precoc... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Generalized-onset seizure, Hypospadias, Testicular neoplasm, Spina bifida, Precoc... |
ORPHA:363958 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Ring Chromosome 10 Syndrome |
|
Cachexia |
ORPHA:1438 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Peritonitis, Weight loss |
ORPHA:679 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Obesity |
ORPHA:813 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Shoulder flexion contracture, Cachexia, Abnormality of ... |
ORPHA:800 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Thrombocytopenia 1 |
|
Increased circulating IgE level, Eczema, Increased circulating IgA level |
OMIM:313900 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Depression, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Increased circulating IgE level, Increased circula... |
ORPHA:449432 |
Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level |
OMIM:616395 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Weight loss |
ORPHA:67 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Lassa Fever |
|
Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Elevated circulating creatinine concentration, De... |
ORPHA:29073 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Seizure, Impaired social interactions... |
ORPHA:177907 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Mend Syndrome |
|
Cryptorchidism, Abnormal social behavior, Seizure, Limb hypertonia |
ORPHA:401973 |
Zygomycosis |
|
Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Peritonitis, Pancreatitis, H... |
ORPHA:73263 |
Mucolipidosis Type Ii |
|
Hip contracture, Diastasis recti, Splenomegaly, Inability to walk, Knee flexion contracture, Weig... |
ORPHA:576 |
Thymoma |
|
Myositis, Glomerulonephritis, Weight loss |
ORPHA:99867 |
Primary Sjögren Syndrome |
|
Somatic sensory dysfunction, Abnormal spinal cord morphology, Chorea, Depression, Seizure, Vagina... |
ORPHA:289390 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
Multiple Endocrine Neoplasia Type 1 |
|
Atypical absence status epilepticus, Depression, Impotence, Lethargy, Decreased male libido, Amen... |
ORPHA:652 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Cachexia |
OMIM:175500 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Weight loss |
ORPHA:514 |
Complete Atrioventricular Septal Defect |
|
Lethargy |
ORPHA:1329 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97278 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, Peritonitis, Thyroiditis, Endoc... |
ORPHA:31204 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Hypospadias, Cachexia |
ORPHA:217346 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Weight loss |
ORPHA:90362 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hypertonia, Dys... |
OMIM:617248 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... |
ORPHA:449563 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:36426 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Focal motor seizure, Seizure, Hypertonia, Febrile seizure (within the age rang... |
ORPHA:1675 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Macroglossia, Flexion contracture, Infectious encephalitis, Cerebral cortical atrophy |
ORPHA:847 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Weight loss |
ORPHA:100075 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
Immunodeficiency 31C |
|
Splenomegaly, Hepatomegaly, Skeletal muscle atrophy, Weight loss |
OMIM:614162 |
Castleman Disease |
|
Renal insufficiency, Jaundice, Weight loss, Hematuria, Ureteral obstruction |
ORPHA:160 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97283 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Hepatic failure, Hydronephr... |
ORPHA:100078 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abnormality of urine homeostasis, Increased body weight, Weight... |
ORPHA:1501 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Muscle weakness, Paralysis |
ORPHA:18 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Hepatitis, Bronchiectasis, Enterocolitis, Thyroidit... |
ORPHA:391487 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Spastic tetrapleg... |
OMIM:619475 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:98849 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Tubuloi... |
ORPHA:79078 |
Acute Promyelocytic Leukemia |
|
Hematuria, Weight loss |
ORPHA:520 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly |
ORPHA:309155 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Weight loss |
ORPHA:324964 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Weight loss |
ORPHA:677 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97282 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein co... |
ORPHA:91500 |
Pearson Marrow-Pancreas Syndrome |
|
Lethargy |
OMIM:557000 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97261 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Splenomegaly, Weight loss |
ORPHA:50918 |
Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration |
OMIM:309900 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Nephrolithiasis, Renal cyst, Hyp... |
ORPHA:143 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Facial palsy, Portal hypertension, Nephrolithiasis, Hypercalci... |
ORPHA:797 |
Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy |
OMIM:617156 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
Pyomyositis |
|
Myositis, Renal insufficiency, Weight loss |
ORPHA:764 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Pancreatic hypoplasia, H... |
OMIM:619991 |
Hurler Syndrome |
|
Neurodegeneration |
OMIM:607014 |
Mucopolysaccharidosis, Type Vii |
|
Neurodegeneration |
OMIM:253220 |
Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level, Thyroiditis, Sclerosing cholangitis, Hypocalcemia, Hashimoto th... |
ORPHA:64744 |
Gitelman Syndrome |
|
Focal-onset seizure, Paresthesia, Muscle weakness, Paralysis |
ORPHA:358 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Hypertonia, Hydronephrosis |
ORPHA:3380 |
Granulomatosis With Polyangiitis |
|
Renal insufficiency, Ureteral stenosis, Proteinuria, Pancreatitis, Weight loss, Hematuria, Hemipl... |
ORPHA:900 |
Fructose Intolerance, Hereditary |
|
Lethargy, Seizure |
OMIM:229600 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Unilateral Polymicrogyria |
|
Abnormal posturing |
ORPHA:268943 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Extrahepatic cholestasis, Inter... |
ORPHA:97280 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Crusting erythematous dermatitis, Synovitis... |
ORPHA:324625 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Orchitis, Pustule, Arthritis, Infectious encephalitis |
ORPHA:761 |
Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Weight loss |
ORPHA:93672 |
Tetrasomy 9P |
|
Cryptorchidism, Abnormal spinal cord morphology, Oligozoospermia, Seizure, Inappropriate behavior... |
ORPHA:3310 |
Lysinuric Protein Intolerance |
|
Lethargy |
ORPHA:470 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Flexion contracture, Hepatosplenomegaly |
ORPHA:85408 |
Rat-Bite Fever |
|
Pancreatitis, Tendonitis, Weight loss |
ORPHA:31205 |
Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Increased... |
ORPHA:373 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Williams Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Involuntary movements, Ataxia, Tremor, Crypto... |
ORPHA:904 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:109 |
Acute Adrenal Insufficiency |
|
Renal insufficiency, Decreased urinary potassium, Renal salt wasting, Weight loss, Failure to thrive |
ORPHA:95409 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Crimean-Congo Hemorrhagic Fever |
|
Acute pancreatitis, Elevated circulating creatine kinase concentration, Erythema nodosum, Myocard... |
ORPHA:99827 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:913 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy |
OMIM:218700 |
Mosaic Trisomy 20 |
|
Cryptorchidism, Abnormal spinal cord morphology |
ORPHA:1724 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Hypospadias, Abnormal preputium morphology, Weight loss, Abnorm... |
ORPHA:84 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis, Weight loss, Hepatomegaly |
ORPHA:60025 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Eisenmenger Syndrome |
|
Lethargy, Muscle weakness |
ORPHA:97214 |
Tuberous Sclerosis Complex |
|
Epileptic spasm, Infantile spasms, Focal-onset seizure, Depression, Seizure, Status epilepticus, ... |
ORPHA:805 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Carney-Stratakis Syndrome |
|
Weight loss |
ORPHA:97286 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Cachexia |
ORPHA:1969 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Weight loss |
ORPHA:79430 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Proteinuria, Ataxia, Abnormality of c... |
ORPHA:79318 |
Yellow Fever |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circul... |
ORPHA:99829 |
Nijmegen Breakage Syndrome |
|
Rhabdomyosarcoma, Pollakisuria, Cachexia, Skeletal muscle atrophy |
ORPHA:647 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Hepatomegaly, Hypercalciuria, Weight loss |
OMIM:181000 |
Addison Disease |
|
Decreased urinary potassium, Failure to thrive, Weight loss, Renal salt wasting |
ORPHA:85138 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
Viss Syndrome |
|
Chronic gastritis, Inguinal hernia, Eczema, Patent ductus arteriosus, Increased circulating IgE l... |
OMIM:619472 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Phimosis, Urinary bladder inflammation, Flexion contracture, Weigh... |
ORPHA:99921 |
Dermatomyositis |
|
Inflammatory myopathy, Weight loss |
ORPHA:221 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cachexia, Hemiplegia/hemiparesis, Macroglossia, Slender build |
ORPHA:828 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperkalemia, Hyperlipidemia, Infectious encephalitis |
ORPHA:293987 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Elevated urinary epinephrine level, Weight loss, Hypernatriuria, ... |
ORPHA:90794 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Pancreatic adenocarcinoma, Pancreatoblastoma, Increased body we... |
ORPHA:99889 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Slender build, Cachexia |
ORPHA:558 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Shuffling gait, Weight loss |
ORPHA:740 |
Immunodeficiency 82 With Systemic Inflammation |
|
Splenomegaly, Hepatitis, Weight loss |
OMIM:619381 |
Proteus Syndrome |
|
Decreased muscle mass, Cachexia, Splenomegaly, Long penis, Renal cyst, Myofibrillar myopathy |
ORPHA:744 |
Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Hepatomegaly, Myocardial calcification, Cachexia |
ORPHA:75565 |
Norrie Disease |
|
Hypertonia, Failure to thrive, Clonus, Cachexia |
ORPHA:649 |
Limb Body Wall Complex |
|
Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida |
ORPHA:2369 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Ataxia, Neurodegeneration |
OMIM:259050 |