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Gene: Usp31 MGI:1923429

Gene Summary

Name:

ubiquitin specific peptidase 31

Synonyms:

6330567E21Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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	Allele	Zyg	Life Stage	P Value
increased lean body mass	Usp31^em1(IMPC)H	HOM	Late adult	9.07×10^-05
decreased total body fat amount	Usp31^em1(IMPC)H	HOM	Late adult	1.97×10^-07
decreased grip strength	Usp31^{em1(IMPC)Marc}	HOM	Early adult	4.36×10^-06
decreased locomotor activity	Usp31^em1(IMPC)H	HOM	Early adult	2.17×10^-08
abnormal gait	Usp31^em1(IMPC)H	HOM	Early adult	4.67×10^-06
increased eosinophil cell number	Usp31^{em1(IMPC)Marc}	HOM	Early adult	0.00
impaired pupillary reflex	Usp31^em1(IMPC)H	HOM	Late adult	4.42×10^-05
tremors	Usp31^em1(IMPC)H	HOM	Late adult	8.45×10^-09
increased basophil cell number	Usp31^{em1(IMPC)Marc}	HOM	Early adult	0.00
increased circulating glucose level	Usp31^{em1(IMPC)Marc}	HOM	Early adult	3.21×10^-09
increased circulating creatinine level	Usp31^{em1(IMPC)Marc}	HOM	Early adult	6.85×10^-08
increased mean corpuscular hemoglobin concentration	Usp31^{em1(IMPC)Marc}	HOM	Early adult	5.95×10^-41
decreased hematocrit	Usp31^{em1(IMPC)Marc}	HOM	Early adult	9.00×10^-13
decreased locomotor activity	Usp31^em1(IMPC)H	HOM	Late adult	1.06×10^-18
increased circulating phosphate level	Usp31^{em1(IMPC)Marc}	HOM	Early adult	7.53×10^-18
decreased exploration in new environment	Usp31^em1(IMPC)H	HOM	Late adult	4.30×10^-08
abnormal gait	Usp31^em1(IMPC)H	HOM	Late adult	2.67×10^-06
decreased locomotor activity	Usp31^{em1(IMPC)Marc}	HOM	Early adult	1.48×10^-06
decreased mean corpuscular volume	Usp31^{em1(IMPC)Marc}	HOM	Early adult	2.33×10^-41
increased prepulse inhibition	Usp31^{em1(IMPC)Marc}	HOM	Early adult	2.84×10^-11
decreased prepulse inhibition	Usp31^em1(IMPC)H	HOM	Early adult	1.23×10^-06
increased circulating potassium level	Usp31^em1(IMPC)H	HOM	Late adult	7.35×10^-05
mydriasis	Usp31^em1(IMPC)H	HOM	Early adult	9.29×10^-05
decreased startle reflex	Usp31^em1(IMPC)H	HOM	Early adult	7.83×10^-06

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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.

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M-Mode Images

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X-ray

XRay Images Whole Body Dorso Ventral

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XRay Images Whole Body Lateral Orientation

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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.

Human diseases associated with Usp31 (0 diseases)
Human diseases predicted to be associated with Usp31 (1007 diseases)

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	Matching phenotypes	Source
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
X-Linked Spinocerebellar Ataxia Type 4	Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal...	ORPHA:85292
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu...	OMIM:614561
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Babinski sign, Flexion contracture, Cognitive impairment, Spasticity	OMIM:611105
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Depression, Focal...	ORPHA:216873
Dystonia 12	Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l...	OMIM:128235
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Autosomal Recessive Spastic Paraplegia Type 71	Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia	ORPHA:401840
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking	OMIM:158580
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra...	ORPHA:98762
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Unsteady gait, Ataxia	OMIM:615945
Immunodeficiency 88	Eosinophilia	OMIM:619630
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Dystonia 16	Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si...	OMIM:612067
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Mydriasis	ORPHA:247815
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo...	ORPHA:314632
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Ataxia	OMIM:213000
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi...	OMIM:212050
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Tremor, Involuntary movements, Or...	ORPHA:454887
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Kinetic tremor, Gait disturbance, Tremor	OMIM:611808
Autosomal Spastic Paraplegia Type 72	Rigidity, Memory impairment, Postural tremor, Spastic gait	ORPHA:401849
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal at...	OMIM:615768
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra...	OMIM:615362
Progressive Myoclonic Epilepsy Type 1	Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor	ORPHA:308
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres...	ORPHA:101109
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Parkinson Disease 22, Autosomal Dominant	Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with...	OMIM:616710
Spinocerebellar Ataxia Type 38	Tremor, Difficulty walking, Gait ataxia	ORPHA:423296
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Myoclonus, Familial, 1	Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor	OMIM:614937
Spinal Muscular Atrophy, Jokela Type	Tremor, Elevated circulating creatine kinase concentration, Fasciculations, Difficulty walking	OMIM:615048
Epilepsy, Progressive Myoclonic 7	Mental deterioration, Ataxia, Tremor, Myoclonus	OMIM:616187
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia	OMIM:600116
Cyanide-Induced Parkinsonism-Dystonia	Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling...	ORPHA:306692
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme...	OMIM:606438
Dystonia 28, Childhood-Onset	Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Cognitive impairment, R...	OMIM:617284
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls	ORPHA:494526
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Loss of ambulation, Tremor, Fasciculations	OMIM:182980
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Parkinson Disease 19A, Juvenile-Onset	Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai...	OMIM:615528
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression...	OMIM:618093
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia,...	OMIM:615924
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Difficulty walking...	OMIM:614018
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Gait disturbance, ...	ORPHA:276435
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia, Hand tremor, Periodic paralysis	OMIM:609153
Dystonia 16	Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,...	ORPHA:210571
Dystonia 23	Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia	OMIM:614860
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritabilit...	OMIM:261630
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm...	ORPHA:240085
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis	Tremor, Spastic paraplegia	OMIM:309560
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ...	ORPHA:71517
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia...	ORPHA:363710
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Neurodegeneration With Brain Iron Accumulation 8	Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Parkinsonism With Spasticity, X-Linked	Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity	OMIM:300911
Tremor, Hereditary Essential, 5	Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor	OMIM:616736
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Eosinophilia, Elevated circulating creatine kinase concentration, Difficulty walking	OMIM:253600
X-Linked Non Progressive Cerebellar Ataxia	Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T...	ORPHA:314978
Juvenile Temporal Arteritis	Leukocytosis, Eosinophilia	ORPHA:26137
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Uveal Melanoma	Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis	ORPHA:39044
Spinocerebellar Ataxia, X-Linked 5	Ataxia, Action tremor	OMIM:300703
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d...	OMIM:164500
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i...	ORPHA:98763
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Blue Diaper Syndrome	Recurrent hypoglycemia, Hyperphosphatemia, Hypercalcemia, Increased proinsulin:insulin ratio	ORPHA:94086
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp...	ORPHA:240094
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty...	ORPHA:98764
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Tremor, Mildly elevated creatine kinase	OMIM:614369
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor	OMIM:610297
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Intellectual Developmental Disorder, Autosomal Recessive 48	Waddling gait, Emotional lability, Tremor, Inability to walk	OMIM:616269
Cinca Syndrome	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome...	OMIM:607115
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,...	ORPHA:423275
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Urocanase Deficiency	Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor	OMIM:276880
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Essential Fructosuria	Abnormal erythrocyte enzyme level, Hyperglycemia	ORPHA:2056
Atypical Progressive Supranuclear Palsy Syndrome	Freezing of gait, Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit...	ORPHA:99750
Hypermanganesemia With Dystonia 2	Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,...	OMIM:617013
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d...	OMIM:300423
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Parkinson Disease 17	Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia	OMIM:614203
Spinocerebellar Ataxia, X-Linked 1	Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor	OMIM:302500
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Saccharopinuria	Tremor, Spastic diplegia, Hypercystinemia, Gait ataxia, Hyperammonemia, Cognitive impairment, Abn...	ORPHA:3124
Basal Ganglia Calcification, Idiopathic, 5	Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im...	OMIM:615483
Urocanic Aciduria	Broad-based gait, Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Truncal atax...	ORPHA:210128
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Pigmen...	OMIM:614307
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri...	OMIM:607688
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia	ORPHA:306669
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Unsteady gait, Eosinophilia, Abnormally low T cell receptor excision circle level	OMIM:618092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia	OMIM:617056
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Progressive Supranuclear Palsy-Corticobasal Syndrome	Progressive extrapyramidal muscular rigidity, Limb apraxia, Involuntary movements, Tremor, Rigidi...	ORPHA:240103
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, I...	OMIM:233910
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidi...	OMIM:261640
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Tremor, Flexion contracture, Babinski sign, Optic atrophy, Steppage gait, Hypertonia, Mental dete...	OMIM:609260
Developmental And Epileptic Encephalopathy 97	Tremor, Inability to walk	OMIM:619561
Coenzyme Q10 Deficiency, Primary, 9	Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo...	OMIM:619028
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ...	ORPHA:391411
Spastic Paraplegia 78, Autosomal Recessive	Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyramidal sign, Spastic tetraplegia...	OMIM:617225
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea n...	OMIM:617872
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla...	OMIM:620044
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi...	ORPHA:2070
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Kimura Disease	Eosinophilia	ORPHA:482
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cherubism	Optic neuropathy, Marcus Gunn pupil, Macular scar	OMIM:118400
Hyperkalemic Periodic Paralysis	Hyponatremia, Periodic hyperkalemic paralysis, Cerebral palsy, Elevated circulating creatine kina...	ORPHA:682
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Myoclonus, Difficulty walking	OMIM:613608
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Gait ataxia, Depression, Bradyki...	OMIM:137440
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression...	OMIM:616795
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia, Stepp...	OMIM:618387
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia, Reduced haptoglobin level	OMIM:612126
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Babinski sign, Optic atrophy, Dysmetr...	OMIM:210000
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Eyelid myoclonus, Myoc...	ORPHA:2590
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Parkinson Disease 14, Autosomal Recessive	Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel...	OMIM:612953
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Spinocerebellar Ataxia 19	Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc...	OMIM:607346
Spastic Paraparesis And Deafness	Tremor, Spastic paraparesis	OMIM:312910
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Abnormal fear-indu...	ORPHA:3077
Parkinsonism With Polyneuropathy	Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam...	OMIM:619279
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Autosomal Recessive Dopa-Responsive Dystonia	Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk...	ORPHA:101150
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Tremo...	OMIM:208920
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Ataxia, Obesity, Limb dystonia	OMIM:620270
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor	OMIM:620158
Infantile Neuronal Ceroid Lipofuscinosis	Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat...	ORPHA:79263
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypoglycemia, Hypercalcemia, Eosinophilia, Hy...	ORPHA:199299
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Depression, ...	ORPHA:254881
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia	OMIM:617638
Miller Fisher Syndrome	Anisocoria, Ataxia, Mydriasis	ORPHA:98919
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho...	ORPHA:99845
Intestinal Botulism	Mydriasis	ORPHA:178481
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental...	ORPHA:542310
Stxbp1-Related Encephalopathy	Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity	ORPHA:599373
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas...	ORPHA:53351
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Hyperchlorhidrosis, Isolated	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Immunodeficiency 7	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia	OMIM:615387
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi...	ORPHA:397946
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Diff...	OMIM:159950
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Small for gestational age	OMIM:278780
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Reduced intraabdominal adipose...	ORPHA:363400
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Tremor, Hereditary Essential, 4	Postural tremor, Action tremor	OMIM:614782
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Spastic gait	OMIM:600363
Neuroectodermal Melanolysosomal Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Abnormal optic nerve morphology, Macular dys...	ORPHA:33445
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Elbow flexion contracture	OMIM:619470
Hypermanganesemia With Dystonia 1	Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Preeclampsia	Type I diabetes mellitus, Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Esophagitis, Eosinophilic, 2	Eosinophilia	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia	OMIM:610247
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dementia, Spastic paraparesis	ORPHA:329284
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity	OMIM:213200
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A...	OMIM:619738
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
X-Linked Charcot-Marie-Tooth Disease Type 1	Tremor, Ataxia, Gait disturbance	ORPHA:101075
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Wells Syndrome	Eosinophilia	ORPHA:901
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eosinophilia	OMIM:618523
Hsd10 Disease	Short attention span, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance,...	ORPHA:391417
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Combined Oxidative Phosphorylation Deficiency 45	Tremor, Failure to thrive, Ataxia	OMIM:618951
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Oromandibular dystonia, Dysmetria, ...	ORPHA:101
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Ataxia	OMIM:619099
Familial Dyskinesia And Facial Myokymia	Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia	ORPHA:324588
Autosomal Dominant Spastic Paraplegia Type 9B	Postural tremor, Progressive neurologic deterioration, Babinski sign, Elbow flexion contracture, ...	ORPHA:447757
Iatrogenic Botulism	Mydriasis	ORPHA:254509
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Cutaneous abscess	OMIM:147060
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
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
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig...	OMIM:615157
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Wound Botulism	Mydriasis	ORPHA:178475
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga...	OMIM:618049
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinase concentration, T...	OMIM:614298
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
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
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Aicardi-Goutieres Syndrome 6	Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation	OMIM:615010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
X-Linked Charcot-Marie-Tooth Disease Type 3	Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spastic paraparesis	ORPHA:101077
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapares...	OMIM:607483
Inhalational Botulism	Mydriasis	ORPHA:254504
Neuronal Intranuclear Inclusion Disease	Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impairment	OMIM:603472
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Depression, Gait ataxia,...	OMIM:300623
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Neuroferritinopathy	Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s...	ORPHA:157846
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Shu...	OMIM:168601
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis...	OMIM:606324
Birk-Landau-Perez Syndrome	Failure to thrive in infancy, Hyperkalemia, Optic atrophy, Limb ataxia, Increased circulating cre...	OMIM:617595
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysmetria, Clumsiness, Progressive...	ORPHA:284324
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb...	OMIM:615530
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog...	ORPHA:70594
X-Linked Charcot-Marie-Tooth Disease Type 4	Tremor, Ataxia, Gait disturbance	ORPHA:101078
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Spast...	OMIM:300055
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn...	ORPHA:240071
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s...	ORPHA:96
Waisman Syndrome	Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait...	OMIM:311510
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Tremor, Inability...	OMIM:128100
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia	ORPHA:330050
Perry Syndrome	Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Weig...	OMIM:168605
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int...	OMIM:610185
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, ...	OMIM:300894
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy	Waddling gait, Elevated circulating creatine kinase concentration, Tremor, Shuffling gait, Fascic...	ORPHA:209335
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Pseudohypoaldosteronism Type 2	Hyperkalemia, Abnormal dental enamel morphology, Periodic paralysis	ORPHA:757
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor...	OMIM:312080
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Pelizaeus-Merzbacher Disease, Classic Form	Dystonia, Ataxia, Spastic tetraparesis, Dystonic gait, Abnormal pyramidal sign, Titubation, Athet...	ORPHA:280219
Mitochondrial Membrane Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait d...	ORPHA:289560
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Hyperkalemic Periodic Paralysis	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:170500
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Unsteady gait, Flexion contracture, Slurred speech, Babinski sign, Clumsi...	ORPHA:137898
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia	OMIM:618587
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast...	ORPHA:363654
Manganese Poisoning	Postural tremor, Confusion, Akinesia, Emotional lability, Depression, Irritability, Bradykinesia,...	ORPHA:306682
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
X-Linked Intellectual Disability, Hedera Type	Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred speech, Babinski sign...	ORPHA:93952
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Loss of ambulation, Clum...	ORPHA:206443
Botulism	Mydriasis	ORPHA:1267
Glycosylphosphatidylinositol Biosynthesis Defect 15	Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Progressive Supranuclear Palsy	Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Dementia, Falls, Cognit...	ORPHA:683
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Macular degenerat...	ORPHA:48818
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,...	OMIM:606703
Peroxisome Biogenesis Disorder 5B	Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Elevated circulating phytanic acid concentratio...	OMIM:614867
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Microcoria, Congenital	Microcoria, Miosis, Hypoplasia of the iris dilator muscle	OMIM:156600
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Foodborne Botulism	Mydriasis	ORPHA:228371
Serotonin Syndrome	Tremor, Mydriasis	ORPHA:43116
Perry Syndrome	Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func...	ORPHA:178509
Autoinflammation With Arthritis And Dyskeratosis	Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro...	OMIM:617388
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance	ORPHA:99014
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome	Multiple joint contractures, Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ...	ORPHA:504476
Idiopathic Chronic Eosinophilic Pneumonia	Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:2902
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho...	OMIM:168600
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Cataract-Ataxia-Deafness Syndrome	Tremor, Hypertonia, Ataxia	ORPHA:1368
Intellectual Developmental Disorder, X-Linked 104	Tremor, Spasticity, Optic atrophy, Ataxia	OMIM:300983
Infant Botulism	Keratoconjunctivitis sicca, Mydriasis	ORPHA:178478
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni...	ORPHA:401768
Peeling Skin Syndrome 1	Eosinophilia	OMIM:270300
Leukoencephalopathy With Ataxia	Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ...	OMIM:615651
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti...	ORPHA:442835
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Myoclonus	OMIM:615127
Spinocerebellar Ataxia, Autosomal Recessive 13	Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki...	OMIM:614831
Pseudohypoaldosteronism, Type Iia	Periodic hyperkalemic paralysis, Hyperkalemia	OMIM:145260
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Arachnoid Cyst	Inability to walk, Gait disturbance, Mydriasis	ORPHA:2356
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Incoordination, Tremor, Paraparesis, Achilles tendon contracture, Babinski sign, Dysmetria, Hand ...	OMIM:302800
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo...	OMIM:618877
Roifman Syndrome	Splenomegaly, Eosinophilia	OMIM:616651
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Tremor, Ataxia, Gait ataxia	OMIM:617831
Spinocerebellar Ataxia 2	Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Babinski sign, Limb ataxia, Dysme...	OMIM:183090
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly	ORPHA:353298
Alternating Hemiplegia Of Childhood	Ataxia, Tremor, Choreoathetosis, Dystonia, Mydriasis	ORPHA:2131
Developmental And Epileptic Encephalopathy 32	Tremor, Ataxia, Myoclonus	OMIM:616366
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign...	ORPHA:52368
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Spinocerebellar Ataxia Type 36	Ataxia, Babinski sign, Limb myoclonus, Limb ataxia, Dysmetria, Hand tremor, Tongue fasciculations...	ORPHA:276198
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Alexander Disease	Microcoria, Ataxia, Dysmetria	OMIM:203450
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Pgm3-Cdg	Hemolytic anemia, Ataxia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4...	ORPHA:443811
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Lopes-Maciel-Rodan Syndrome	Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,...	OMIM:617435
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Spinocerebellar Ataxia 15	Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Tremor, Inability to walk, Limb fasciculations, Elevated circulating creatine kinase concentration	ORPHA:90117
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia	ORPHA:139485
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Adult-Onset Cervical Dystonia, Dyt23 Type	Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu...	ORPHA:420492
Epilepsy, Familial Adult Myoclonic, 5	Tremor, Myoclonus	OMIM:615400
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Macular deg...	ORPHA:247234
Primary Progressive Freezing Gait	Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Shuffling gait, Gait im...	ORPHA:75567
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia	OMIM:243700
O'Sullivan-Mcleod Syndrome	Eosinophilia	ORPHA:99965
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Immunodeficiency 23	Hemolytic anemia, Ataxia, Eosinophilia, Abscess, Neutropenia, Lymphopenia	OMIM:615816
Cln5 Disease	Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot...	ORPHA:228360
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Sterile abscess, Eosinophilia, Cutaneous abscess	OMIM:618282
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
4H Leukodystrophy	Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit...	ORPHA:289494
Multiple System Atrophy, Cerebellar Type	Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm...	ORPHA:227510
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Ataxia	OMIM:618637
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Developmental And Epileptic Encephalopathy 42	Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia	OMIM:617106
Atypical Rett Syndrome	Dystonia, Involuntary movements, Tremor, Inability to walk, Limb myoclonus, Gait ataxia, Pill-rol...	ORPHA:3095
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Hepatosplenomegaly	OMIM:618999
Dystonia 34, Myoclonic	Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia	OMIM:619724
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:64753
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni...	OMIM:616840
Multiple System Atrophy, Parkinsonian Type	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:98933
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:613839
Igg4-Related Aortitis	Hypereosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449400
Sneddon Syndrome	Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment	ORPHA:820
Classic Phenylketonuria	Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,...	ORPHA:79254
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul...	ORPHA:2169
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder, Failure ...	OMIM:619556
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia...	ORPHA:230
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Multiple lipomas, Gait ...	ORPHA:765
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol...	ORPHA:69076
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Autosomal Dominant Hypocalcemia	Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul...	OMIM:607694
Generalized Epilepsy With Febrile Seizures-Plus	Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment	ORPHA:36387
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Pyruvate Dehydrogenase E1-Alpha Deficiency	Hyperalaninemia, Increased serum pyruvate, Small for gestational age, Tremor, Choreoathetosis, My...	OMIM:312170
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:610600
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:203400
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Charcot-Marie-Tooth Disease Type 1E	Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i...	ORPHA:90658
Charcot-Marie-Tooth Disease And Deafness	Tremor, Steppage gait, Gait disturbance	OMIM:118300
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep...	OMIM:602450
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls	OMIM:616719
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Immunodeficiency 89 And Autoimmunity	Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei...	OMIM:619632
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Bickerstaff Brainstem Encephalitis	Anisocoria, Ataxia, Mydriasis	ORPHA:79138
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Ataxia, Tremor, Flexion contracture, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Steppa...	OMIM:616505
Monomelic Amyotrophy	Tremor, Fasciculations	ORPHA:65684
Aspergillosis	Eosinophilia, Neutropenia	ORPHA:1163
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo...	OMIM:607060
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Aminoaciduria, Hypophosphatemia, Anemia	OMIM:239200
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Inability to walk, Dysmetria,...	OMIM:617675
Dystonia 24	Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia	OMIM:615034
Sporadic Infantile Bilateral Striatal Necrosis	Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykine...	ORPHA:225147
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Aminoaciduria, Hypophosphatemia	OMIM:616026
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Pituitary Apoplexy	Mydriasis	ORPHA:95613
Multiple System Atrophy	Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,...	ORPHA:102
Coenzyme Q10 Deficiency, Primary, 4	Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus	OMIM:612016
Glutathionuria	Tremor, Dysdiadochokinesis, Action tremor	OMIM:231950
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Trisomy X	Tremor, Attention deficit hyperactivity disorder, Cognitive impairment, Depression	ORPHA:3375
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Abnormal glucose homeostasis, Neutropenia, Lethargy, Hyperglycemia, T...	ORPHA:391673
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Glycosuria, Aminoaciduria, Hypophosphatemia	OMIM:618913
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Ataxia	OMIM:618970
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Weight loss, Periodic paralysis	OMIM:613239
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Osteopetrosis, Autosomal Recessive 5	Mydriasis	OMIM:259720
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia, Periodic paralysis	OMIM:613345
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Cystic Echinococcosis	Abscess, Eosinophilia, Hyperbilirubinemia, Splenic cyst, Peritoneal abscess	ORPHA:400
Interstitial Nephritis, Karyomegalic	Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Young-Onset Parkinson Disease	Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia...	ORPHA:2828
Loeffler Endocarditis	Eosinophilia	ORPHA:75566
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Tremor, Hypertonia, Gait disturbance, Progressive neurologic deterioration	ORPHA:1192
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Intellectual Developmental Disorder, X-Linked 12	Small for gestational age, Tremor, Depression, Truncal obesity, Hyperkinetic movements, Gait dist...	OMIM:300957
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:264350
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Parkinson Disease 21	Bradykinesia, Tremor, Rigidity, Parkinsonism	OMIM:616361
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	OMIM:177735
Scorpion Envenomation	Tremor, Miosis, Ataxia, Mydriasis	ORPHA:466677
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Clonus, Elevated circulating creatine kinase concentr...	OMIM:615673
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Weight loss, Dementia...	ORPHA:411602
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ...	ORPHA:231222
Pseudohypoparathyroidism Type 1A	Calcinosis, Choreoathetosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic s...	ORPHA:79443
Multisystemic Smooth Muscle Dysfunction Syndrome	Mydriasis	OMIM:613834
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
East Syndrome	Ataxia, Inability to walk, Hypokalemia, Increased circulating renin level, Difficulty walking, Hy...	ORPHA:199343
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Glycosuria, Aminoaciduria, Hypophosphatemia	OMIM:308990
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tremor, Lethargy, Increased body weight, Progressive neurologic deterioration	ORPHA:276608
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Cystinosis	Aminoaciduria, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabetes mellitus	ORPHA:213
Dent Disease 2	Aminoaciduria, Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity	ORPHA:529665
Netherton Syndrome	Hypereosinophilia	OMIM:256500
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Caribbean Parkinsonism	Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe de...	ORPHA:97355
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigidity, Progressive spastic...	ORPHA:845
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Generalized aminoaciduria, H...	ORPHA:2088
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:3261
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Iga Pemphigus	Eosinophilia, Cutaneous abscess	ORPHA:555905
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Alveolar Echinococcosis	Liver abscess, Ataxia, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess	ORPHA:284
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Unsteady gait, Type II diabetes mellitus	OMIM:520000
Cocaine Intoxication	Tremor, Mydriasis	ORPHA:90068
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Miosis, Oculogyric crisis, Limb tremor, Choreoathetosi...	OMIM:608643
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Ataxia, Conjugated hyperbilirubinemia, Inability to walk, Hyperkalemia, Hypertonia, Spasticity	OMIM:608885
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology	ORPHA:1164
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Spontaneous Periodic Hypothermia	Tremor, Ataxia, Gait disturbance	ORPHA:29822
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity	OMIM:176500
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Ataxia-Telangiectasia	Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity, Failure to thrive	ORPHA:100
Oculopharyngodistal Myopathy 3	Tremor, Pigmentary retinopathy, Ataxia, Elevated circulating creatine kinase concentration	OMIM:619473
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactos...	OMIM:227810
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria	OMIM:615605
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis	ORPHA:139402
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia	OMIM:617425
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr...	ORPHA:2686
Idiopathic Non-Lupus Full-House Nephropathy	Elevated circulating creatinine concentration	ORPHA:567544
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Depression, Hyperkinetic movements, Upper limb spasticity, Gait disturbance	ORPHA:457240
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Dystonia, Joint contracture	OMIM:617664
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Cystathioninuria	Tremor, Cystathioninemia	ORPHA:212
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Sialidosis Type 2	Inguinal hernia, Ataxia, Tremor, Flexion contracture, Umbilical hernia, Abnormal macular morphology	ORPHA:87876
Parkinson Disease 18, Autosomal Dominant, Susceptibility To	Bradykinesia, Resting tremor, Rigidity, Parkinsonism	OMIM:614251
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra...	ORPHA:79102
Neurodegeneration With Brain Iron Accumulation 1	Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P...	OMIM:234200
Spastic Paraplegia 9B, Autosomal Recessive	Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar paralysis, Gait disturbance,...	OMIM:616586
Eosinophilic Granulomatosis With Polyangiitis	Gait disturbance, Eosinophilia	ORPHA:183
Woolly Hair	Abnormal pupil morphology, Cataract	ORPHA:170
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Lethargy	ORPHA:2089
Autosomal Dominant Hyper-Ige Syndrome	Eosinophilia	ORPHA:2314
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv...	ORPHA:79126
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive	ORPHA:427
Hereditary Methemoglobinemia	Athetosis, Methemoglobinemia	ORPHA:621
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance, Abnormal optic nerve m...	ORPHA:83629
Woolly Hair Nevus	Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Depression, Pigmentary retino...	ORPHA:79095
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration	OMIM:616733
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Weight loss, Increased circulating reni...	ORPHA:171876
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:614736
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Irritability, Decreased serum zinc, Emotional lability, Failure to thrive, Lethargy	OMIM:201100
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus	OMIM:619092
Senior-Loken Syndrome 1	Elevated circulating creatinine concentration, Anemia	OMIM:266900
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration	OMIM:619468
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesi...	OMIM:614381
Mohr-Tranebjaerg Syndrome	Mental deterioration, Spasticity, Tremor, Dystonia	OMIM:304700
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Waddli...	ORPHA:157215
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Mydriasis	OMIM:619351
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia	OMIM:618060
Fanconi Renotubular Syndrome 1	Glycosuria, Hypokalemia, Aminoaciduria, Hypophosphatemia	OMIM:134600
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu...	ORPHA:2298
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,...	ORPHA:99027
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Flexion contracture, Dementia, Decreased body weight	OMIM:278760
Angiostrongyliasis	Hypereosinophilia	ORPHA:74
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Facial Spasm	Anisocoria	OMIM:134300
Beta-Ketothiolase Deficiency	Ataxia, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis, Hyperglycemia	ORPHA:134
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest...	ORPHA:247585
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Elevated circulating creatine kinase concentration	OMIM:313200
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti...	OMIM:262190
Erythrocytosis, Familial, 2	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:263400
Hereditary Fructose Intolerance	Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy	ORPHA:469
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo...	OMIM:618885
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil...	OMIM:601104
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Nonketotic hypoglycemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Elevat...	OMIM:608836
Coach Syndrome 2	Elevated circulating creatinine concentration	OMIM:619111
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytop...	ORPHA:508533
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre...	OMIM:300539
Renal Hypoplasia, Bilateral	Hyponatremia, Small for gestational age, Hyperkalemia, Lethargy, Failure to thrive	ORPHA:97362
Ethylene Glycol Poisoning	Ataxia, Confusion, Slurred speech, Hyperkalemia, Euphoria, Myoclonus, Hypocalcemia	ORPHA:31826
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Pearson Syndrome	Reticulocytosis, Pancytopenia, Diabetes mellitus, Ataxia, Hypomagnesemia, Thrombocytopenia, Splen...	ORPHA:699
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Fatigable weakness of respiratory muscles, Mild...	ORPHA:681
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, R...	OMIM:617710
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Tremor, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochokines...	ORPHA:502423
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia, Anemia	OMIM:174000
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Bone ma...	OMIM:127550
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Elevated circulating creatinine conc...	ORPHA:36234
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho...	OMIM:241530
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Tremor, Abnormal pyramidal sign, Amyloid deposition in the vitreous humor, Lim...	OMIM:105210
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia	OMIM:617101
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia, Periodic paralysis	OMIM:170400
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc...	ORPHA:90041
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
C3 Glomerulopathy	Elevated circulating creatinine concentration	ORPHA:329918
Autosomal Dominant Spastic Paraplegia Type 9A	Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Lower limb hypertonia, Dement...	ORPHA:447753
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Combined Oxidative Phosphorylation Deficiency 15	Optic disc pallor, Inguinal hernia, Incoordination, Ataxia, Progressive neurologic deterioration,...	OMIM:614947
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ...	OMIM:609454
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia	ORPHA:29073
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Mucoepithelial Dysplasia, Hereditary	Eosinophilia	OMIM:158310
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Athetosis, Hyperglycemia, Glycosuria	OMIM:618857
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Tremor	ORPHA:66633
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Craniotubular Dysplasia, Ikegawa Type	Mydriasis	OMIM:619727
Sialidosis Type 1	Ataxia, Tremor, Slurred speech, Gait disturbance, Myoclonus, Hernia, Cherry red spot of the macul...	ORPHA:812
Fanconi Renotubular Syndrome 2	Glycosuria, Generalized aminoaciduria, Hypophosphatemia	OMIM:613388
Sneddon Syndrome	Mental deterioration, Atrophic scars, Hemiplegia, Tremor	OMIM:182410
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231226
Igg4-Related Pachymeningitis	Eosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449427
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration	ORPHA:247691
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Plague	Conjunctival hyperemia, Unsteady gait, Mydriasis	ORPHA:707
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G...	OMIM:617988
Apparent Mineralocorticoid Excess	Hypertensive retinopathy, Small for gestational age, Hypokalemia, Failure to thrive, Decreased ci...	OMIM:218030
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Cerebral palsy, Spastic tetraplegia, Athetosis, Hypokalemia, Spasticity, Decreased circulating re...	OMIM:615474
Diamond-Blackfan Anemia	Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto...	ORPHA:124
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Familial Dysautonomia	Ataxia, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Gait disturbance, Heterochro...	ORPHA:1764
Phacoanaphylactic Uveitis	Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo...	ORPHA:209959
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Hypoalbuminemia, Myoclonus, Mental de...	OMIM:254900
Ddost-Cdg	Tremor, Failure to thrive, Oromotor apraxia, Lipodystrophy	ORPHA:300536
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli...	ORPHA:231214
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Tremor, Polyminimyoclonus, Impaired tandem gait, Fasciculations, Vocal cord paresis	OMIM:619574
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Incontinentia Pigmenti	Gait disturbance, Eosinophilia	ORPHA:464
Oculopharyngodistal Myopathy 4	Tremor, Postural tremor, Elevated circulating creatine kinase concentration	OMIM:619790
Short Syndrome	Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo...	ORPHA:3163
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Amish Nemaline Myopathy	Tremor, Hip contracture, Shoulder flexion contracture	ORPHA:98902
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Glycogen Storage Disease Due To Aldolase A Deficiency	Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Hypocalcemic Vitamin D-Resistant Rickets	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia, Weight loss, Periodic paralysis	OMIM:188580
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Dystonia, Abnormal blood inorganic cation concentration, Rigidity, Bradykinesia, Poor fine motor ...	ORPHA:309854
Mercury Poisoning	Tremor, Hypokalemia, Confusion, Dystonia	ORPHA:330021
Glutaryl-Coa Dehydrogenase Deficiency	Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Retinal hemorrhage, Athetosi...	ORPHA:25
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H...	ORPHA:99826
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Tremor, Retinal dystrophy, Ataxia, Hyperbilirubinemia	ORPHA:713
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu...	ORPHA:411634
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Difficulty walking	ORPHA:320406
Incontinentia Pigmenti	Leukocytosis, Eosinophilia	OMIM:308300
Developmental And Epileptic Encephalopathy 4	Choreoathetosis, Spastic paraplegia, Tremor, Spastic tetraplegia	OMIM:612164
Vitamin D-Dependent Rickets, Type 2A	Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Hyperekplexia 2	Exaggerated startle response, Astigmatism	OMIM:614619
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia, Tetraplegia, Weight loss, Failure to thrive	ORPHA:361
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Resting tremor, Ataxia, Babinski sign, Optic atrophy, Depression, Head tremor, Mental deteriorati...	ORPHA:314404
Mirage Syndrome	Hyponatremia, Hyperkalemia, Paraplegia, Decreased body weight	OMIM:617053
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim...	OMIM:618056
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Symptomatic Form Of Hfe-Related Hemochromatosis	Diabetes mellitus, Splenomegaly, Increased circulating ferritin concentration, Elevated transferr...	ORPHA:465508
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Waddling gait, Speech apraxia, Dystonia, Ataxia, Elevated circulating creatine kinase concentrati...	OMIM:615356
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Adenine Phosphoribosyltransferase Deficiency	Elevated circulating creatinine concentration	OMIM:614723
Oncogenic Osteomalacia	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment	OMIM:146500
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration	OMIM:620138
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubine...	OMIM:229600
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity	OMIM:618527
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Dysmetria	OMIM:615578
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Progressive neurologic deterioration, Large for gestational age, Tremor, Abnormal circulating fat...	ORPHA:263455
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Hypokalemia, Failure to thrive	OMIM:611590
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Primary Fanconi Renotubular Syndrome	Hypouricemia, Hypoglycemia, Bicarbonaturia, Generalized aminoaciduria, Hypophosphatemia, Glycosur...	ORPHA:3337
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Short attention span, Broad-based gait, Ataxia, Tremor, Obesity, Gait imbalance, Myoclonus	ORPHA:98794
Hyperlysinemia	Short attention span, Neck hypertonia, Failure to thrive, Poor motor coordination, Spastic tetrap...	ORPHA:2203
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Charcot-Marie-Tooth Disease Type 4C	Abnormal pupillary light reflex, Inability to walk, Gait ataxia, Anisocoria, Difficulty walking, ...	ORPHA:99949
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Elevated circulating creatinine concentration	OMIM:614376
Coats Disease	Leukocoria	OMIM:300216
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive...	ORPHA:49041
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Leukocytosis, Hyperglycemia	ORPHA:90065
Metachromatic Leukodystrophy	Incoordination, Ataxia, Dystonia, Tremor, Dementia, Gait disturbance, Tip-toe gait, Decerebrate r...	ORPHA:512
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Dent Disease 1	Glycosuria, Aminoaciduria, Hypophosphatemia	OMIM:300009
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Hypokalemia, Dysdiadochokinesis, Increased circulating renin level, Hypomagnesemia, Inten...	OMIM:612780
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Athetosis, Hypokalemia, Cerebral palsy, Spastic paraplegia	ORPHA:369929
Coccidioidomycosis	Abnormality of the spleen, Granuloma, Abscess, Eosinophilia	ORPHA:228123
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Coenzyme Q10 Deficiency, Primary, 1	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Loss of ambulation...	OMIM:607426
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Failure to thrive, Increased circulating renin level	ORPHA:90791
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Hypouricemia, Renal, 1	Elevated circulating creatinine concentration, Hypouricemia	OMIM:220150
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Miosis, Anisocoria, Abnormal pupil shape, Slow pupillary light response	ORPHA:45358
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia	OMIM:616881
Lysosomal Acid Lipase Deficiency	Psychomotor deterioration, Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight los...	ORPHA:275761
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Cystinosis, Nephropathic	Hyponatremia, Diabetes mellitus, Splenomegaly, Generalized aminoaciduria, Reduced blood urea nitr...	OMIM:219800
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen...	ORPHA:797
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a...	ORPHA:646
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Igg4-Related Kidney Disease	Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le...	ORPHA:449395
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Hypoglycemia, Hyperammonem...	ORPHA:3008
Acute Adrenal Insufficiency	Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin level, Hyperu...	ORPHA:95409
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Exaggerated startle response, Dystonia	ORPHA:438216
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Fibrous Dysplasia Of Bone	Diabetes mellitus, Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia	ORPHA:249
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Duane Retraction Syndrome	Central heterochromia, Abnormal pupil morphology, Microcornea, Blepharospasm, Hypoplastic iris st...	ORPHA:233
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hypomagnesemia 2, Renal	Hypokalemia, Chondrocalcinosis, Hypomagnesemia	OMIM:154020
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypophosphatemia, Aminoaciduria, Hypokalemia, Glycosuria	ORPHA:411629
Mccune-Albright Syndrome	Pancytopenia, Bone marrow hypocellularity, Hypophosphatemia	ORPHA:562
Proteus-Like Syndrome	Limbal dermoid, Abnormal pupil morphology, Cataract, Heterochromia iridis	ORPHA:2969
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Hypoglycemia, Hyperammonemia	OMIM:615453
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Confusion, Tremor, Hyperhomocystinemia, Cystathioninem...	OMIM:277400
Renal Tubular Acidosis Iii	Hypokalemia, Periodic paralysis	OMIM:267200
Liddle Syndrome	Hypokalemia	ORPHA:526
Lymphatic Filariasis	Hypereosinophilia	ORPHA:2035
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Igg4-Related Ophthalmic Disease	Eosinophilia, Elevated circulating C-reactive protein concentration	ORPHA:449563
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Failure to thrive, Ataxia, Elevated circulating creatine kinase concentration, Tr...	ORPHA:254892
Ataxia-Telangiectasia	Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Inability to walk, Slurred ...	OMIM:208900
Superficial Siderosis	Ataxia, Unsteady gait, Limb ataxia, Dysmetria, Anisocoria, Progressive gait ataxia, Dysdiadochoki...	ORPHA:247245
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia, Failure to thrive	OMIM:602722
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia	OMIM:619737
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Ataxia, Increased circulating guanosine concentration, Tremor, Spastic diplegia, Te...	OMIM:613179
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Hypochromic microcytic anemia, Anemia	ORPHA:440713
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Ataxia	OMIM:231550
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Igg4-Related Submandibular Gland Disease	Eosinophilia	ORPHA:449432
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia	OMIM:175700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Inability to walk, Optic atrophy, Hypokalemia, Hypocalcemia, Spasticity	OMIM:617913
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Failure to thrive, Hyperkalemia	ORPHA:90790
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hyperalaninemia, Inguinal hernia, Ataxia, Small for gestational age, Tremor, Hyperammonemia, Umbi...	OMIM:614052
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response	OMIM:617864
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Cholera	Hyponatremia, Abnormal blood ion concentration, Irritability, Hypokalemia, Hypocalcemia, Lethargy	ORPHA:173
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Revesz Syndrome	Megalocornea, Ataxia, Leukocoria	OMIM:268130
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia, Anemia	OMIM:609069
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Elevated cir...	OMIM:137920
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Ataxia, Elevated circulating creatine kinase concentration, Optic neuropathy, Tremo...	OMIM:610505
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Gitelman Syndrome	Ataxia, Paralysis, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Failure to thr...	OMIM:263800
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Corneal dystrophy	ORPHA:52
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Ataxia, Retinal telangiectasia, Tremor, Abnormal pyramidal sign, Optic atrophy, Exudative retinop...	OMIM:612199
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Aminoaciduria, Hypokalemia, Hypophosphatemia, Hypercholester...	ORPHA:534
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Ataxia, Hypokalemia, Hypertonia, Myoclonus, Spasticity, Failure to thrive	OMIM:618426
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Donohue Syndrome	Postprandial hyperglycemia, Hyperglycemia, Hyperinsulinemia, Fasting hypoglycemia	OMIM:246200
Addison Disease	Hyponatremia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating renin level, Hyperu...	ORPHA:85138
Cushing Disease	Diabetes mellitus, Impaired glucose tolerance, Fatiguable weakness of proximal limb muscles, Leuk...	ORPHA:96253
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Intrahepatic Cholestasis Of Pregnancy	Small for gestational age, Tremor, Depression, Increased serum bile acid concentration, Hyperbili...	ORPHA:69665
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Cataract	OMIM:620327
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Glucose intolerance, Hyper...	OMIM:608612
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:168558
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Failure to thrive, Hyperkalemia	ORPHA:293978
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Cachexia, Hypomagnesemia	OMIM:175500
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol concentration, Increased circulating...	ORPHA:289548
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Failure to thrive	OMIM:214700
Pauci-Immune Glomerulonephritis	Granulomatosis, Elevated circulating creatinine concentration	ORPHA:93126
Tyrosinemia Type 2	Tremor, Ataxia	ORPHA:28378
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
Knobloch Syndrome 1	Ataxia, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris transillumination d...	OMIM:267750
Trichinellosis	Anisocoria, Conjunctivitis, Abnormal uvea morphology, Lethargy, Conjunctival hyperemia	ORPHA:863
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Ataxia	OMIM:615510
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Apparent Mineralocorticoid Excess	Failure to thrive, Hypokalemia, Hypertensive retinopathy, Decreased circulating renin level	ORPHA:320
Oculodentodigital Dysplasia, Autosomal Recessive	Microcornea, Cataract, Persistent pupillary membrane	OMIM:257850
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Ectopia pupillae, Astigmatism, Cataract	OMIM:618727
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Papillorenal Syndrome	Elevated circulating creatinine concentration	OMIM:120330
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Obesity, Depression, Emotional lability	ORPHA:293987
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Sandhoff Disease	Exaggerated startle response, Ataxia	OMIM:268800
Dent Disease	Aminoaciduria, Renal hypophosphatemia, Elevated circulating creatine kinase concentration, Glycos...	ORPHA:1652
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microcornea, Ectopia pupillae, Cataract, Sclerocornea	OMIM:615877
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Hypokalemia, Obesity, Abdominal obesity	OMIM:219090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Infection-Related Hemolytic Uremic Syndrome	Hemiparesis, Hyponatremia, Hyperkalemia, Hypocalcemia	ORPHA:544482
Eisenmenger Syndrome	Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem...	ORPHA:97214
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:91500
Raine Syndrome	Hypophosphatemia	OMIM:259775
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Type I diabete...	ORPHA:171
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:248370
Adrenocortical Carcinoma	Irritability, Hypokalemia, Increased body weight, Weight loss	ORPHA:1501
Bartter Syndrome Type 4	Hyponatremia, Small for gestational age, Clumsiness, Hypochloremia, Hypokalemia, Increased circul...	ORPHA:89938
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Oligomeganephronia	Elevated circulating creatinine concentration	ORPHA:2260
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:151660
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:613090
Andersen Cardiodysrhythmic Periodic Paralysis	Periodic paralysis, Depression, Hypokalemia, Enamel hypoplasia, Periodic hypokalemic paresis	OMIM:170390
Autosomal Dominant Polycystic Kidney Disease	Elevated circulating creatinine concentration	ORPHA:730
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Tooth abscess	ORPHA:289176
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Corneal opacity, Lens subluxation	ORPHA:85167
Cardiogenic Shock	Elevated circulating creatinine concentration	ORPHA:97292
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris...	OMIM:175780
Nephronophthisis 11	Anisocoria	OMIM:613550
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Corticosteroid-Binding Globulin Deficiency	Hypokalemia	OMIM:611489
Structural Heart Defects And Renal Anomalies Syndrome	Elevated circulating creatinine concentration	OMIM:617478
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anisocoria, Difficulty walking	OMIM:618653
Bartter Syndrome, Type 3	Hyperchloriduria, Abnormal retinal vascular morphology, Hypokalemia, Increased circulating renin ...	OMIM:607364
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
X-Linked Hypophosphatemia	Tooth abscess, Hypophosphatemia	ORPHA:89936
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive	ORPHA:90794
Viss Syndrome	Hypereosinophilia	OMIM:619472
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hyperglycemia	OMIM:615954
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria	ORPHA:2714
Cushing Syndrome Due To Ectopic Acth Secretion	Diabetes mellitus, Impaired glucose tolerance, Fatiguable weakness of proximal limb muscles, Leuk...	ORPHA:99889
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational age, Hyp...	OMIM:601678
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Ataxia, Hypoglycemia, Aminoaciduria, Recurrent hypoglycemia, Hyperglycemia	OMIM:124000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Cataract	OMIM:253800
Osteootohepatoenteric Syndrome	Hypokalemia, Failure to thrive, Increased serum bile acid concentration, Weight loss	OMIM:619377
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Scalp-Ear-Nipple Syndrome	Anisocoria, Cataract, Iris coloboma, Developmental cataract	OMIM:181270
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Dystonia	ORPHA:521426
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia	OMIM:174900
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Small for gestational age, Hyperkalemia, Camptodactyly, Joint contracture of the ha...	OMIM:201750
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response	OMIM:615574
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Ectopia pupillae	OMIM:618223
Retinoblastoma	Hypopyon, Heterochromia iridis, Leukocoria, Uveitis	ORPHA:790
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Hyperglycemia, Ataxia, Glycosuria	ORPHA:99885
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypochloremia, Hyp...	OMIM:241200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Failure to thrive	OMIM:602522
Gitelman Syndrome	Paralysis, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Failure to thrive, Chondro...	ORPHA:358
Dermatomyositis	Abnormal eosinophil morphology	ORPHA:221
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat...	OMIM:619534
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Failure to thrive, Decreased circulating renin level	ORPHA:90793
Leprechaunism	Insulin resistance, Hyperinsulinemia, Hypokalemia, Increased circulating renin level, Recurrent i...	ORPHA:508
Tsh-Secreting Pituitary Adenoma	Tremor, Hypokalemia, Periodic hypokalemic paresis, Weight loss	ORPHA:91347
Cutis Marmorata Telangiectatica Congenita	Leukocoria	ORPHA:1556
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ataxia, Hypoglycemia, Hyperammonemia, Dysmetria, Truncal ataxia, Hyperglycemia	OMIM:220111
Distal Renal Tubular Acidosis	Hypokalemia, Failure to thrive, Paralysis	ORPHA:18
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Vipoma	Hypokalemia, Hypercalcemia, Subcutaneous lipoma, Weight loss	ORPHA:97282
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli...	ORPHA:79474
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Broad-based gait, Cataract, Inability to walk, Abnormal pupil morphology, Microcorn...	ORPHA:261552
Retinoblastoma	Leukocoria	OMIM:180200
Nelson Syndrome	Hypokalemia, Optic nerve compression	ORPHA:199244
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Iris coloboma, Rieger anomaly	OMIM:194190
Immunodeficiency 87 And Autoimmunity	Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro...	OMIM:619573
Mowat-Wilson Syndrome	Cataract, Microcornea, Ectopia pupillae, Chorioretinal coloboma, Iris coloboma	OMIM:235730
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Inability to walk, Broad-based gait, Exaggerated startle response, Dystonia	ORPHA:438213
Proximal Renal Tubular Acidosis	Failure to thrive, Hypokalemia, Enamel hypomineralization, Bicarbonaturia	ORPHA:47159
Witteveen-Kolk Syndrome	Anisocoria, Cataract, Iris coloboma	OMIM:613406
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hyperglycemia	ORPHA:444077
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Heart Defects, Congenital, And Other Congenital Anomalies	Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Sponastrime Dysplasia	Microcoria, Cataract, Congenital aphakia	ORPHA:93357
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal pupil morphology	ORPHA:286
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Usp31

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Usp31.

No publications found that use IMPC mice or data for Usp31.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Usp31^em1(IMPC)H	Exon Deletion	Mice
Usp31^{em1(IMPC)Marc}	Deletion	Mice
Usp31^tm1aNarl	KO first allele (reporter-tagged insertion with conditional potential)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Usp31 MGI:1923429

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Echo

X-ray

X-ray

Human diseases caused by Usp31 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data