Gene Summary

ubiquitin specific peptidase 31

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Usp31em1(IMPC)H HOM   Late adult 5.64×10-05
increased eosinophil cell number Usp31em1(IMPC)Marc HOM Early adult 0.00
mydriasis Usp31em1(IMPC)H HOM   Early adult 5.73×10-05
decreased startle reflex Usp31em1(IMPC)H HOM Early adult 8.25×10-06
hypoactivity Usp31em1(IMPC)H HOM   Early adult 2.05×10-08
hypoactivity Usp31em1(IMPC)Marc HOM Early adult 1.48×10-06
decreased total body fat amount Usp31em1(IMPC)H HOM   Late adult 1.82×10-07
hypoactivity Usp31em1(IMPC)H HOM Late adult 4.59×10-18
tremors Usp31em1(IMPC)H HOM Late adult 1.35×10-08
increased basophil cell number Usp31em1(IMPC)Marc HOM   Early adult 0.00
decreased grip strength Usp31em1(IMPC)Marc HOM Early adult 4.36×10-06
impaired pupillary reflex Usp31em1(IMPC)H HOM Late adult 3.10×10-05
increased circulating creatinine level Usp31em1(IMPC)Marc HOM Early adult 6.85×10-08
increased circulating glucose level Usp31em1(IMPC)Marc HOM Early adult 3.21×10-09
decreased exploration in new environment Usp31em1(IMPC)H HOM Late adult 1.86×10-08
increased mean corpuscular hemoglobin concentration Usp31em1(IMPC)Marc HOM Early adult 5.95×10-41
decreased hematocrit Usp31em1(IMPC)Marc HOM Early adult 9.00×10-13
decreased mean corpuscular volume Usp31em1(IMPC)Marc HOM Early adult 2.33×10-41
increased prepulse inhibition Usp31em1(IMPC)Marc HOM Early adult 2.84×10-11
abnormal gait Usp31em1(IMPC)H HOM Late adult 4.21×10-06
increased circulating phosphate level Usp31em1(IMPC)Marc HOM Early adult 7.53×10-18
decreased prepulse inhibition Usp31em1(IMPC)H HOM   Early adult 1.31×10-06
abnormal gait Usp31em1(IMPC)H HOM Early adult 6.13×10-06
increased circulating potassium level Usp31em1(IMPC)H HOM Late adult 3.33×10-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.


XRay Images Whole Body Lateral Orientation

9 Images


XRay Images Whole Body Dorso Ventral

8 Images

Human diseases caused by Usp31 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Usp31 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy OMIM:311050
Episodic Ataxia, Type 1
Babinski sign, Elevated circulating creatine kinase concentration, Spastic gait, Tremor, Slurred ... OMIM:160120
X-Linked Spinocerebellar Ataxia Type 4
Postural tremor, Dementia, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty wal... ORPHA:85292
Leukoencephalopathy, Brain Calcifications, And Cysts
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... OMIM:614561
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Cognitive impairment, Tremor, Ataxia, Spasticity, Flexion contracture OMIM:611105
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Ataxia, Upper motor neuron d... ORPHA:401901
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Optic atrophy, Rigidity, Frequent f... ORPHA:216873
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Rigidity, Cognitive impairment, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, ... OMIM:615528
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis OMIM:158580
Cyanide-Induced Parkinsonism-Dystonia
Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... ORPHA:306692
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Progressive gait ataxia, Progressive cerebellar ataxia, Truncal ataxia, Limb ataxia ORPHA:247815
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Dementia, Motor deterioration, Cognitive impairment, Myoclonus, Abnormality of extrap... ORPHA:79262
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Hand tremor, Spastic gait, Lower limb spasticity, Progressive spastic paraplegia ORPHA:401840
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Immunodeficiency 88
Eosinophilia OMIM:619630
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Dementia, Gait disturbance, Tremor by anatomical site, Cognitive i... ORPHA:98762
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus, Mental deterioration OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Dementia, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia,... OMIM:615362
Paralysis Agitans, Juvenile, Of Hunt
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:168100
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... ORPHA:464440
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Frequent falls OMIM:615945
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor OMIM:300660
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Hypertriglyceridemia, Tetraparesis, Spasticit... OMIM:615924
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus ORPHA:494526
Parkinson Disease 14, Autosomal Recessive
Clumsiness, Dystonia, Rigidity, Elevated circulating creatine kinase concentration, Aggressive be... OMIM:612953
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Huntington Disease-Like 2
Dystonia, Dementia, Rigidity, Chorea, Weight loss, Apathy, Bradykinesia, Irritability, Action tre... OMIM:606438
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus OMIM:616921
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Corticobasal Syndrome
Involuntary movements, Gait disturbance, Oromotor apraxia, Dementia, Limb myoclonus, Dystonia, Li... ORPHA:454887
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Agoraphobia, Myoclonus, Tremor, Anxiety OMIM:159900
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Cognitive impairment, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady g... OMIM:615768
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity OMIM:619491
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Gait disturbance, Kinetic tremor OMIM:611808
Behr Syndrome
Progressive spasticity, Babinski sign, Gait disturbance, Optic atrophy, Dysmetria, Hamstring cont... OMIM:210000
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Autosomal Spastic Paraplegia Type 72
Postural tremor, Spastic gait, Memory impairment, Rigidity ORPHA:401849
Cerebellar Ataxia, Cayman Type
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Gait ataxia ORPHA:94122
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Dystonia 27
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor OMIM:616411
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... ORPHA:521406
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Progressive Myoclonic Epilepsy Type 1
Dementia, Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia ORPHA:308
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking ORPHA:423296
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Dementia, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Choreoathetosis, Myoclonus, Progressive neurologic deterioration, Hyperphenylalaninemia... OMIM:261630
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Cognitive impairment, Myocl... ORPHA:314632
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Spinocerebellar Ataxia Type 28
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Cognitive impairment, Spasticity, Head tremor,... ORPHA:101109
Spinal Muscular Atrophy, Jokela Type
Tremor, Difficulty walking, Fasciculations, Elevated circulating creatine kinase concentration OMIM:615048
Parkinson Disease 2, Autosomal Recessive Juvenile
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism OMIM:600116
Neurodegeneration With Brain Iron Accumulation 8
Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait OMIM:617917
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Birk-Landau-Perez Syndrome
Hyperkalemia, Dystonia, Limb hypertonia, Choreoathetosis, Cognitive impairment, Ataxia, Oculomoto... OMIM:617595
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... OMIM:260300
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Hypermanganesemia With Dystonia 2
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... OMIM:617013
Candidiasis, Familial, 2
Hypereosinophilia, Decreased serum iron OMIM:212050
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia,... ORPHA:251282
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Dementia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety OMIM:605909
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... OMIM:128230
Pseudohypoparathyroidism Type 2
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94090
Migraine, Familial Hemiplegic, 1
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety OMIM:141500
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... ORPHA:101110
Spinocerebellar Ataxia 12
Dementia, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Action tr... OMIM:604326
Dystonia 23
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Rigidity, Small for gestational age, Choreoathetosis, Progressive neurologic deteriorat... OMIM:261640
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Elevated circulating creatine kinase concentration, Eosinophilia, Difficulty walking OMIM:253600
Parkinson Disease 22, Autosomal Dominant
Tremor, Gait disturbance, Resting tremor, Bradykinesia OMIM:616710
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... ORPHA:240085
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Spinocerebellar Ataxia 48
Babinski sign, Cachexia, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Mental deteri... OMIM:618093
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Aggressive behavior, Stereotypy, Tremor, Spastic tetraparesis, Hyperactivity, Broa... OMIM:619470
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Dystonia 16
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... ORPHA:210571
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:618883
Lower Motor Neuron Syndrome With Late-Adult Onset
Gait disturbance, Elevated circulating creatine kinase concentration, Fasciculations, Tremor, Ina... ORPHA:276435
Spinocerebellar Ataxia Type 37
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... ORPHA:363710
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Spinocerebellar Ataxia, Autosomal Recessive 17
Dysmetria, Unsteady gait, Truncal ataxia, Tremor OMIM:616127
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Cognitive impairment, Tremor, Ataxia, Irritability OMIM:612126
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Spinocerebellar Ataxia, X-Linked 4
Tremor, Ataxia, Dementia, Abnormal pyramidal sign OMIM:301840
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia OMIM:264070
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Tremor OMIM:231950
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... OMIM:607317
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... OMIM:612716
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Gait disturbance, Dystonia, Dysmetria, Cognitive impairment, Tremor, Oculomotor apraxia, Dysdiado... OMIM:617145
Spinocerebellar Ataxia 7
Babinski sign, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Ma... OMIM:164500
Macrosomia Adiposa Congenita
Eosinophilia OMIM:248100
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Cognitive impairment, Abnormal pyramidal sign, Tremor, Ataxia, Incoordination, Uns... OMIM:614947
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Spinocerebellar Ataxia 29
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... OMIM:117360
Uveal Melanoma
Mydriasis, Zonular cataract, Iris melanoma, Inferior lens subluxation, Ciliary body melanoma ORPHA:39044
Spinocerebellar Ataxia Type 14
Rigidity, Cognitive impairment, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Ga... ORPHA:98763
Spinocerebellar Ataxia Type 27
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... ORPHA:98764
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Spasticity OMIM:616494
Blue Diaper Syndrome
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia ORPHA:94086
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... OMIM:213600
Cinca Syndrome
Leukocytosis, Anemia, Hepatosplenomegaly, Eosinophilia, Elevated circulating C-reactive protein c... OMIM:607115
Spinocerebellar Ataxia 19
Postural tremor, Cognitive impairment, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxi... OMIM:607346
Neurodegeneration With Brain Iron Accumulation 3
Babinski sign, Decreased circulating ferritin concentration, Dementia, Dystonia, Rigidity, Choreo... OMIM:606159
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration OMIM:182920
Omenn Syndrome
B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymp... OMIM:603554
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Spinocerebellar Ataxia Type 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... ORPHA:423275
Spinocerebellar Ataxia 40
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... OMIM:616053
Primary Dystonia, Dyt2 Type
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... ORPHA:99657
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower ... ORPHA:3077
X-Linked Non Progressive Cerebellar Ataxia
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... ORPHA:314978
Epilepsy, Progressive Myoclonic, 6
Elevated circulating creatine kinase concentration, Myoclonus, Tremor, Ataxia, Difficulty walking OMIM:614018
Dystonia 16
Postural tremor, Parkinsonism, Involuntary movements, Gait disturbance, Cognitive impairment, Bra... OMIM:612067
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... ORPHA:240103
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity, Pigmentary retinopathy OMIM:614307
Atypical Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dementia, Tremor by anatomical site, Rigidity, Falls, Bradykinesia, Extrapyramidal ... ORPHA:99750
Spinocerebellar Ataxia Type 35
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... ORPHA:276193
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism OMIM:614203
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... OMIM:601859
Rapid-Onset Dystonia-Parkinsonism
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... ORPHA:71517
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Halothane Hepatitis
Eosinophilia OMIM:234350
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Dementia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, ... OMIM:300894
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Urocanic Aciduria
Abnormal circulating histidine concentration, Ataxia, Truncal ataxia, Action tremor, Broad-based ... ORPHA:210128
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Hypercystinemia, Cognitive impairment, Hyperammonemia, Tremor, Abnormality of circulating enzyme ... ORPHA:3124
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... OMIM:616689
Mental Retardation, Autosomal Recessive 48
Kinetic tremor, Aggressive behavior, Self-mutilation, Inability to walk, Waddling gait OMIM:616269
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... OMIM:606324
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Spastic Paraplegia 78, Autosomal Recessive
Parkinsonism, Babinski sign, Dementia, Aggressive behavior, Falls, Bradykinesia, Spastic tetraple... OMIM:617225
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Dysmetria, Elevated circulating creatine kinase concentration, Steppage gait, Tremor, Ataxia, Gai... OMIM:618387
Spinocerebellar Ataxia, Autosomal Recessive 22
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... OMIM:616948
Aicardi-Goutieres Syndrome 6
Tremor, Dystonia, Loss of ability to walk, Rigidity OMIM:615010
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Progressive neurologic deterioration, Hyper... OMIM:233910
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis OMIM:607458
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... OMIM:618858
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Babinski sign, Optic atrophy, Steppage gait, Tremor, Hypertonia, Spasticity, Flexion contracture,... OMIM:609260
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia OMIM:213200
Atypical Juvenile Parkinsonism
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... ORPHA:391411
Kimura Disease
Eosinophilia ORPHA:482
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia ORPHA:2239
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Dementia, Optic atrophy, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Parkinson... ORPHA:329284
Eosinophilic Gastroenteritis
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... ORPHA:2070
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
Decreased eosinophil count OMIM:131430
Marcus Gunn pupil, Optic neuropathy, Macular scar OMIM:118400
Spinocerebellar Ataxia, X-Linked 1
Ataxia, Action tremor, Intention tremor OMIM:302500
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Urocanase Deficiency
Tremor, Ataxia, Aggressive behavior OMIM:276880
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Poor motor coordination, Cognitive impairment, Myoclonus, ... ORPHA:363400
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Unsteady gait, Eosinophilia OMIM:618092
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Aggressive behavior, Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp OMIM:608105
Hyperkalemic Periodic Paralysis
Hyperkalemia, Hyponatremia, Gait disturbance, Hypokalemia, Cerebral palsy, Elevated circulating c... ORPHA:682
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Babinski sign, Dystonia, Dysmetria, Aggressive behavior, Cognitive impairment, Bradykinesia, Trem... OMIM:615157
Spinocerebellar Ataxia 23
Babinski sign, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia OMIM:146200
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Spinocerebellar Ataxia Type 21
Rigidity, Cognitive impairment, Abnormality of extrapyramidal motor function, Tremor, Progressive... ORPHA:98773
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dystonia, Dementia, Myoclonic spasms, Dysmetria, Chorea, Cognitive impairment, Myoclo... ORPHA:79263
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Dopa-Responsive Dystonia
Irritability, Panic attack, Anxiety, Oculogyric crisis, Lethargy, Gait disturbance, Poor coordina... ORPHA:255
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia OMIM:601198
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... OMIM:606176
Gerstmann-Straussler Disease
Dementia, Rigidity, Weight loss, Myoclonus, Aggressive behavior, Bradykinesia, Tremor, Emotional ... OMIM:137440
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Type I diabet... OMIM:304790
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus OMIM:610582
Caribbean Parkinsonism
Dystonia, Dementia, Weakness due to upper motor neuron dysfunction, Rigidity, Myoclonus, Frontal ... ORPHA:97355
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:36913
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... ORPHA:2590
Wells Syndrome
Eosinophilia ORPHA:901
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Dementia, Choreoathetosis, Cognitive impairment, Tremor, Oculomotor apraxia, Ataxia, Hy... OMIM:208920
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Parkinsonism With Polyneuropathy
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:619279
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... ORPHA:98870
Intestinal Botulism
Mydriasis ORPHA:178481
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:603909
Neuroectodermal Melanolysosomal Disease
Abnormality of the optic nerve, Optic atrophy, Rigidity, Aplasia/Hypoplasia of the macula, Macula... ORPHA:33445
Dystonia 13, Torsion, Autosomal Dominant
Writer's cramp, Torticollis, Oromandibular dystonia, Tremor, Torsion dystonia, Blepharospasm, Lim... OMIM:607671
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Ankle flexion contracture, Cognitive impairment OMIM:616668
Autosomal Recessive Dopa-Responsive Dystonia
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... ORPHA:101150
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Dementia, Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty wa... OMIM:159950
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Torticollis, Apathy, Increased circulating ferritin concentration, Abnormality of retinal pigment... ORPHA:48818
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hyperkalemia, Ataxia, Hypertonia, Inability to walk, Spasticity OMIM:608885
Kufor-Rakeb Syndrome
Babinski sign, Dementia, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, ... OMIM:606693
Hyperphosphatemia, Polyuria, And Seizures
Hyperphosphatemia OMIM:239350
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume OMIM:261000
X-Linked Dystonia-Parkinsonism
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... ORPHA:53351
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Coenzyme Q10 Deficiency, Primary, 9
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia OMIM:619028
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Spinocerebellar Ataxia, Autosomal Recessive 30
Dysmetria, Elevated circulating creatine kinase concentration, Tremor, Ataxia, Unsteady gait, Inc... OMIM:619405
Thrombocytopenia, Elevated circulating creatinine concentration, Type I diabetes mellitus ORPHA:275555
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hypocalcemia, Difficulty walking, Fatigable weakne... ORPHA:99845
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Hypermanganesemia With Dystonia 1
Dystonia, Unconjugated hyperbilirubinemia, Rigidity, Steppage gait, Abnormality of extrapyramidal... OMIM:613280
Neuroleptic Malignant Syndrome
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... ORPHA:94093
Late-Onset Isolated Acth Deficiency
Hypercalcemia, Macrocytic anemia, Hyponatremia, Normocytic anemia, Hypoglycemia, Hyperuricemia, T... ORPHA:199299
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Ataxia, Tremor OMIM:618951
Spinocerebellar Ataxia 42
Babinski sign, Spastic gait, Cognitive impairment, Spastic ataxia, Tremor, Ataxia, Unsteady gait,... OMIM:616795
Autosomal Dominant Spastic Paraplegia Type 9B
Postural tremor, Babinski sign, Dementia, Loss of ambulation, Spastic gait, Spastic dysarthria, P... ORPHA:447757
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... OMIM:277410
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ataxia, Fasciculat... ORPHA:397946
Dentatorubral Pallidoluysian Atrophy
Involuntary movements, Dementia, Optic neuropathy, Dyssynergia, Choreoathetosis, Dysmetria, Cogni... ORPHA:101
Atypical Rett Syndrome
Involuntary movements, Panic attack, Gait disturbance, Dystonia, Limb myoclonus, Tongue thrusting... ORPHA:3095
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Ataxia, Gait disturbance ORPHA:101075
Parkinsonism-Dystonia 2, Infantile-Onset
Dystonia, Cognitive impairment, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric ... OMIM:618049
Iatrogenic Botulism
Mydriasis ORPHA:254509
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Anemia, Increas... OMIM:612926
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Pseudohypoparathyroidism Type 1B
Hypocalcemic tetany, Hypocalcemic seizures, Laryngeal dystonia, Hypocalcemia, Hyperphosphatemia ORPHA:94089
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Thrombocytopenia, Decreased serum creatinine, Microangiopathic hemolytic anemia ORPHA:54057
Wound Botulism
Mydriasis ORPHA:178475
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... ORPHA:169154
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Proximal Myopathy With Extrapyramidal Signs
Involuntary movements, Dystonia, Optic atrophy, Progressive extrapyramidal movement disorder, Cho... ORPHA:401768
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Aggressive behavior, Tremor, Ataxia, Hypera... ORPHA:228360
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Aggressive behavior, Cognitive impairment, Abnormality of extrapyramid... OMIM:607454
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... ORPHA:284324
Refractory Celiac Disease
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... ORPHA:398063
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... ORPHA:98849
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Inhalational Botulism
Mydriasis ORPHA:254504
Neuronal Intranuclear Inclusion Disease
Gait disturbance, Dementia, Rigidity, Cognitive impairment, Tremor, Ataxia OMIM:603472
Crigler-Najjar Syndrome Type 1
Tremor, Unconjugated hyperbilirubinemia, Memory impairment, Neonatal hyperbilirubinemia ORPHA:79234
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia OMIM:127000
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Parkinsonism, Babinski sign, Dystonia, Choreoathetosis, Spastic gait, Shuffling gait, Bradykinesi... OMIM:300055
Brain Dopamine-Serotonin Vesicular Transport Disease
Gait disturbance, Dystonia, Cognitive impairment, Shuffling gait, Tremor, Abnormality of coordina... ORPHA:352649
Parkinsonism-Dystonia 1, Infantile-Onset
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... OMIM:613135
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Ataxia With Vitamin E Deficiency
Gait disturbance, Dystonia, Abnormality of retinal pigmentation, Dysmetria, Tremor, Ataxia, Hyper... ORPHA:96
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Peroxisome Biogenesis Disorder 5B
Dysmetria, Retinal dystrophy, Rod-cone dystrophy, Tremor, Oculomotor apraxia, Ataxia, Elevated le... OMIM:614867
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Rigidity, Bradykinesia, Tremor, Ataxia OMIM:617836
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Perry Syndrome
Dystonia, Rigidity, Suicidal ideation, Weight loss, Apathy, Bradykinesia, Tremor, Short stepped s... OMIM:168605
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Babinski sign, Failure to thrive, Tremor, Broad-based gait, Spastic paraplegia, Difficulty walking ORPHA:477673
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety OMIM:606703
Classic Progressive Supranuclear Palsy Syndrome
Parkinsonism, Dystonia, Gait imbalance, Axial dystonia, Falls, Bradykinesia, Social and occupatio... ORPHA:240071
Lopes-Maciel-Rodan Syndrome
Dystonia, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unsteady gait, Abnormal pyr... OMIM:617435
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Limb hypertonia, Rigidity, Small for gestational age, Cerebral palsy, Cognitive impairm... ORPHA:70594
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Classic Phenylketonuria
Paraplegia, Self-injurious behavior, Hyperphenylalaninemia, Tremor, Hypertonia, Hemiplegia, Menta... ORPHA:79254
Familial Dyskinesia And Facial Myokymia
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking ORPHA:324588
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign OMIM:612016
Inherited Creutzfeldt-Jakob Disease
Clumsiness, Babinski sign, Dementia, Akinetic mutism, Chorea, Spastic hemiparesis, Myoclonus, Spa... ORPHA:282166
Involuntary movements, Babinski sign, Decreased circulating ferritin concentration, Dystonia, Arm... ORPHA:157846
X-Linked Charcot-Marie-Tooth Disease Type 3
Gait disturbance, Tremor, Inability to walk, Spastic paraparesis, Difficulty walking ORPHA:101077
Hyperchlorhidrosis, Isolated
Failure to thrive, Hyponatremia, Hyperkalemia OMIM:143860
Gabriele-De Vries Syndrome
Tremor, Dystonia, Waddling gait OMIM:617557
Hyperphosphatasia With Mental Retardation Syndrome 3
Hyperphosphatemia OMIM:614207
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Writer's cramp, Torticollis, Head tremor, Myoclonus, Limb tremor, Focal dystonia,... ORPHA:420492
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Gait disturbance ORPHA:101078
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Progressive psychomotor deterioration, Poor motor coordination, Dysmetria, Cognitive impairment, ... ORPHA:1170
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Pseudohypoaldosteronism Type 2
Hyperkalemia, Periodic paralysis, Abnormal dental enamel morphology ORPHA:757
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Omenn Syndrome
Leukocytosis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Eosinophilia ORPHA:39041
Relapsing Fever
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... ORPHA:91547
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Difficulty walking ORPHA:306669
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Hand tremor, Oromandibular dystonia, Myoclonus, Vocal tremor, Upper limb postural tr... ORPHA:420485
Fragile X Tremor/Ataxia Syndrome
Postural tremor, Dementia, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem gait, Resti... OMIM:300623
Mydriasis ORPHA:1267
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Gait disturbance, Frequent falls, Loss of ambulation, Lower limb spasticity, Tremor, ... ORPHA:206443
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia OMIM:239000
Mitochondrial Membrane Protein-Associated Neurodegeneration
Babinski sign, Gait disturbance, Dystonia, Optic atrophy, Rigidity, Frequent falls, Hand tremor, ... ORPHA:289560
Leukodystrophy, Hypomyelinating, 6
Dystonia, Optic atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity OMIM:612438
Hyperkalemic Periodic Paralysis
Hyperkalemia, Periodic hyperkalemic paralysis OMIM:170500
Parkinson Disease 20, Early-Onset
Dystonia, Rigidity, Eyelid apraxia, Shuffling gait, Bradykinesia, Tremor, Mental deterioration, P... OMIM:615530
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Progressive spasticity, Babinski sign, Optic atrophy, Loss of ambulation, Spastic ata... ORPHA:137898
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Dystonia, Dystonic gait, Cognitive impairment, Abnormality of extrapyramidal motor fun... ORPHA:280219
X-Linked Charcot-Marie-Tooth Disease Type 5
Gait disturbance, Optic atrophy, Paraparesis, Tremor, Ataxia ORPHA:99014
Encephalopathy, Recurrent, Of Childhood
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... OMIM:130950
X-Linked Intellectual Disability, Hedera Type
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Extrapyramidal muscular rigidity, Ina... ORPHA:93952
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Foodborne Botulism
Mydriasis ORPHA:228371
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Spinocerebellar Ataxia, Autosomal Recessive 21
Frequent falls, Tremor, Ataxia, Spasticity, Gait ataxia OMIM:616719
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Serotonin Syndrome
Tremor, Mydriasis ORPHA:43116
Neurodegeneration With Brain Iron Accumulation 4
Babinski sign, Dementia, Gait disturbance, Dystonia, Optic atrophy, Elevated circulating creatine... OMIM:614298
Pelizaeus-Merzbacher Disease
Dystonia, Optic atrophy, Head titubation, Choreoathetosis, Failure to thrive, Cognitive impairmen... OMIM:312080
Autosomal Dominant Cerebellar Ataxia
Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculations, Abnormal pyramidal sig... ORPHA:99
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Abnormal... ORPHA:331206
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia ORPHA:1368
Mohr-Tranebjaerg Syndrome
Babinski sign, Dementia, Dystonia, Optic atrophy, Oromandibular dystonia, Shuffling gait, Focal d... ORPHA:52368
Autoinflammation With Arthritis And Dyskeratosis
Elevated circulating C-reactive protein concentration, Hypereosinophilia, Autoimmune hemolytic an... OMIM:617388
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia OMIM:241410
Perry Syndrome
Dementia, Weight loss, Abnormality of extrapyramidal motor function, Apathy, Tremor, Parkinsonism ORPHA:178509
Hsd10 Disease
Gait disturbance, Optic atrophy, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Spastic pa... ORPHA:391417
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Babinski sign, Optic atrophy, Dysmetria, Vestibular areflexia, Intention tremor, Progressive cere... ORPHA:504476
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Waisman Syndrome
Dementia, Shuffling gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Parkinsonism OMIM:311510
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Infant Botulism
Mydriasis, Keratoconjunctivitis sicca ORPHA:178478
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Gait disturbance, Frequent falls, Dysmetria, Hand tremor, Achilles tendon contract... OMIM:302800
Arachnoid Cyst
Mydriasis, Gait disturbance, Inability to walk ORPHA:2356
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia ORPHA:89937
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
X-Linked Parkinsonism-Spasticity Syndrome
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... ORPHA:363654
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Roifman Syndrome
Hepatosplenomegaly, Eosinophilia ORPHA:353298
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia OMIM:612462
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, Truncal ataxia, Gait ataxia OMIM:618587
Roifman Syndrome
Eosinophilia, Splenomegaly OMIM:616651
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Head titubation, Rigidity, Choreoathetosis, Myoclonus, Bradykinesia, Tremor, Hypertonia... OMIM:618877
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Inability to walk, Elevated circulating creatine kinase concentration, Limb fasciculations ORPHA:90117
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Gait ataxia OMIM:617810
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Periodic hyperkalemic paralysis OMIM:145260
Dystonia 7, Torsion
Clumsiness, Writer's cramp, Torticollis, Hand tremor, Oromandibular dystonia, Torsion dystonia, B... OMIM:602124
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Cognitive impairment, Myoclonus, Tremor, Ataxia, Blepharospasm OMIM:607876
Xeroderma Pigmentosum, Complementation Group F
Dementia, Tremor, Ataxia, Flexion contracture, Decreased body weight OMIM:278760
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Cerebral palsy, Abnormal circulating neopterin concentration, Hyperphenylalaninemia, Tremor, Hypo... ORPHA:1578
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Trisomy X
Tremor, Anxiety, Cognitive impairment, Attention deficit hyperactivity disorder ORPHA:3375
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Dystonia, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramidal sign ORPHA:139485
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... ORPHA:848
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Babinski sign, Dementia, Rigidity, Shuffling gait, Intention tremor, Macular degeneration, Ataxia... ORPHA:247234
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Dystonia, Optic atrophy, Tremor, Inability to walk, Oculogyric crisis, Difficulty walking ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysmetria, Tremor, Ataxia, Inability to walk, Dysdiadochokinesis, Abnormal pyramidal sign, Gait a... OMIM:614831
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Spinocerebellar Ataxia 15
Postural tremor, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia OMIM:606658
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Hyperphosphatemia OMIM:103580
Non-Specific Early-Onset Epileptic Encephalopathy
Involuntary movements, Optic atrophy, Limb hypertonia, Retinal degeneration, Rigidity, Failure to... ORPHA:442835
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Parkinson-Dementia Syndrome
Parkinsonism, Dementia, Rigidity, Tremor, Abnormal pyramidal sign OMIM:260540
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Elevated circulating creatinin... OMIM:235400
Alternating Hemiplegia Of Childhood
Tremor, Mydriasis, Dystonia, Ataxia ORPHA:2131
Hyperphosphatemia ORPHA:280062
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... OMIM:619632
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Babinski sign, Dystonia, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... OMIM:607483
Ectopia Lentis Et Pupillae
Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Dystonia 2, Torsion, Autosomal Recessive
Torticollis, Blepharospasm, Torsion dystonia, Tremor OMIM:224500
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Parkinson Disease 23, Autosomal Recessive Early-Onset
Dementia, Rigidity, Abnormal pyramidal sign, Resting tremor, Spasticity, Akinesia, Mental deterio... OMIM:616840
Progressive Supranuclear Palsy
Dystonia, Dementia, Rigidity, Cognitive impairment, Falls, Bradykinesia, Tremor, Unsteady gait, B... ORPHA:683
Spinocerebellar Ataxia Type 36
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... ORPHA:276198
Autosomal Dominant Hypocalcemia
Writer's cramp, Fatigable weakness, Hypomagnesemia, Hypocalcemia, Hyperphosphatemia ORPHA:428
Spinocerebellar Ataxia 2
Postural tremor, Dementia, Rigidity, Dysmetria, Myoclonus, Bradykinesia, Fasciculations, Rod-cone... OMIM:183090
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Spinocerebellar Ataxia 27
Postural tremor, Ataxia, Truncal ataxia, Head tremor, Limb ataxia, Gait ataxia, Memory impairment OMIM:609307
4H Leukodystrophy
Dystonia, Optic atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Progressive gai... ORPHA:289494
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration,... OMIM:274150
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Ataxia OMIM:618637
Manganese Poisoning
Postural tremor, Gait disturbance, Dystonia, Aggressive behavior, Abnormality of extrapyramidal m... ORPHA:306682
Parkinson Disease 1, Autosomal Dominant
Gait disturbance, Dementia, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting ... OMIM:168601
Combined Immunodeficiency Due To Zap70 Deficiency
Absence of CD8-positive T cells, Hepatosplenomegaly, Lymphocytosis, Autoimmune thrombocytopenia, ... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasia of the thymu... OMIM:102700
Parkinson Disease 8, Autosomal Dominant
Dementia, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication... OMIM:607060
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hepatosplenomegaly, Eosinophilia OMIM:618999
Spinocerebellar Ataxia Type 10
Babinski sign, Kinetic tremor, Gait imbalance, Dysmetria, Aggressive behavior, Apathy, Lower limb... ORPHA:98761
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Myoclonus, Intention tremor, Action tremor, Gait ataxia OMIM:254900
Multiple System Atrophy, Cerebellar Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Anxiety, Apathy, Bradyki... ORPHA:227510
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Autosomal Dominant Kenny-Caffey Syndrome
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:93325
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Babinski sign, Clonus, Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar... OMIM:301310
Primary Progressive Freezing Gait
Postural tremor, Babinski sign, Clonus, Dementia, Gait imbalance, Rigidity, Frequent falls, Shuff... ORPHA:75567
Sneddon Syndrome
Dementia, Chorea, Hemiparesis, Tremor, Mental deterioration, Memory impairment ORPHA:820
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia ORPHA:90060
Parkinson Disease 21
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:616361
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Hypercalcemia, Hyperphosphatemia OMIM:617994
Immunodeficiency 23
Neutropenia, Abscess, Ataxia, Lymphopenia, Eosinophilia, Hemolytic anemia OMIM:615816
Dystonia 24
Torticollis, Head tremor, Blepharospasm, Oromandibular dystonia OMIM:615034
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Failure to thrive, Hyponatremia, Hyperkalemia OMIM:614736
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Gait disturbance, Pseudobulbar paralysis, Tremor, Tetraplegia, Spasticity, Spastic... OMIM:616586
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Postural tremor, Babinski sign, Dystonia, Gait imbalance, Choreoathetosis, Elevated circulating c... ORPHA:64753
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Tremor, Ataxia, Emotional lability, Irritability, Lethargy OMIM:201100
Multiple System Atrophy, Parkinsonian Type
Postural tremor, Parkinsonism, Axial dystonia, Rigidity, Frequent falls, Apathy, Bradykinesia, Pr... ORPHA:98933
Hypophosphatemia, Renal, With Intracerebral Calcifications
Renal hypophosphatemia OMIM:241519
Epilepsy, Familial Adult Myoclonic, 5