Gene Summary

Name:
NPC intracellular cholesterol transporter 2
Synonyms:
HE1,  2700012J19Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
small adrenal glands Npc2tm1e.1(EUCOMM)Wtsi HET Early adult 0.00
increased circulating potassium level Npc2tm1e.1(EUCOMM)Wtsi HET Early adult 4.01×10-17

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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.

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Human diseases caused by Npc2 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.

The table below shows human diseases associated to Npc2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Niemann-Pick Disease, Type C2
Dystonia, Ataxia, Hepatomegaly, Prolonged neonatal jaundice, Stereotypy, Splenomegaly, Cataplexy,... OMIM:607625

The table below shows human diseases predicted to be associated to Npc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells, Defective T cell proliferation, R... OMIM:614493
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation OMIM:615615
Immunodeficiency 40
Lymphopenia OMIM:616433
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Bronchial wall thickening, Parase... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular... OMIM:265120
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly, Reduced natural killer cell activity OMIM:608898
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Cerebellar hypoplasia, Ataxia OMIM:213000
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Head tremor, Ataxia, Action tremor, Cerebellar atrophy, Upper limb postural tremor, ... ORPHA:98769
Spinocerebellar Ataxia 43
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... OMIM:617018
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... OMIM:618261
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Episodic Ataxia, Type 1
Episodic ataxia, Tremor, Incoordination, Slurred speech, Spastic gait, Babinski sign OMIM:160120
Cerebellar Ataxia And Albinism
Head tremor, Ataxia, Olivopontocerebellar atrophy OMIM:258300
Spinocerebellar Ataxia 37
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls OMIM:615945
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity ORPHA:217012
Optic Atrophy 2
Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Immunodeficiency 20
Reduced natural killer cell count, Reduced natural killer cell activity OMIM:615707
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy ORPHA:423296
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia OMIM:613227
Interstitial Lung And Liver Disease
Intraalveolar phospholipid accumulation, Dyspnea, Cough, Respiratory insufficiency, Abnormal pulm... OMIM:615486
Cerebellar Ataxia, Cayman Type
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... ORPHA:94122
Spinocerebellar Ataxia Type 37
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Diffuse cerebellar atrophy, Trunca... ORPHA:363710
Huntington Disease-Like 2
Dystonia, Chorea, Gait disturbance, Weight loss, Cerebral cortical atrophy, Parkinsonism, Involun... ORPHA:98934
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria OMIM:617917
Autosomal Spastic Paraplegia Type 30
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... ORPHA:101010
Spinocerebellar Ataxia 45
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:617769
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Neutrophilia, B lymphocytopenia, Decreased circulating... OMIM:619281
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Decreased circulating IgE, Impaired lymphocyte transformation with phytohemagg... OMIM:300400
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Tremor, Myoclonus, Ataxia OMIM:616187
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Tremor, Cerebral atrophy, Tetraparesis, Abnormal pyramidal sign, Ataxia, Hepatomegaly, ... OMIM:615924
Lichtenstein-Knorr Syndrome
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetria OMIM:616291
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy OMIM:615268
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Cerebellar atrophy, Uns... OMIM:615768
Cerebral Palsy, Ataxic, Autosomal Recessive
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait OMIM:605388
Spinocerebellar Ataxia Type 12
Postural tremor, Limb dysmetria, Gait disturbance, Cerebral atrophy, Poor fine motor coordination... ORPHA:98762
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Tremor, Ataxia, Spasticity OMIM:616494
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... OMIM:615362
Spinocerebellar Ataxia 23
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... OMIM:610245
Spinocerebellar Ataxia 41
Unsteady gait, Cerebellar atrophy, Ataxia OMIM:616410
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Decreased ci... OMIM:618108
Spinocerebellar Ataxia, Autosomal Recessive 17
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria OMIM:616127
Spinocerebellar Ataxia, Autosomal Recessive 21
Tremor, Gait ataxia, Ataxia, Hepatic fibrosis, Hepatomegaly, Cerebellar atrophy, Hepatic failure,... OMIM:616719
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Spinocerebellar Ataxia 29
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... OMIM:117360
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Dystonia, Apraxia, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity OMIM:615889
Juvenile Huntington Disease
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... ORPHA:248111
Leukoencephalopathy, Brain Calcifications, And Cysts
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... OMIM:614561
Immunodeficiency 8
Lymphopenia OMIM:615401
Spinocerebellar Ataxia Type 20
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... ORPHA:101110
X-Linked Non Progressive Cerebellar Ataxia
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... ORPHA:314978
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... ORPHA:284332
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Pseudohypoaldosteronism OMIM:145260
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614495
Spastic Ataxia 2, Autosomal Recessive
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... OMIM:611302
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Congenital adrenal hyperplasia OMIM:613571
Spinocerebellar Ataxia Type 35
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... ORPHA:276193
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Tremor, Gait disturbance, Babinski sign, Diffuse cerebral atrophy OMIM:300660
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign OMIM:607458
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:615957
Dystonia 23
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Cerebel... OMIM:614860
Spinocerebellar Ataxia, Autosomal Recessive 22
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Cerebellar atrophy, Lower limb sp... OMIM:616948
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Abnormal natural killer cell physiology, Decreased circulating antibody level, ... OMIM:613101
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... OMIM:617862
Spinocerebellar Ataxia 31
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia OMIM:117210
Spinocerebellar Ataxia 35
Incoordination, Difficulty walking, Ataxia, Cerebellar atrophy, Torticollis, Dysmetria, Intention... OMIM:613908
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Spinocerebellar Ataxia 20
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor OMIM:608687
Spinocerebellar Ataxia Type 40
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... ORPHA:423275
Migraine, Familial Hemiplegic, 1
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy OMIM:141500
Spinocerebellar Ataxia 40
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... OMIM:616053
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity OMIM:618090
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnormal cerebel... OMIM:270500
Spinocerebellar Ataxia, X-Linked 1
Cerebellar atrophy, Action tremor, Ataxia, Intention tremor OMIM:302500
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Spinocerebellar Ataxia 12
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Cerebral cortical atrophy, Cerebe... OMIM:604326
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Pulmonary hemorrhage, Hemophagocytosis, Intraalveol... OMIM:222700
Spinocerebellar Ataxia, Autosomal Recessive 10
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... OMIM:613728
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction
Inability to walk, Cerebellar atrophy, Ataxia OMIM:619333
Spinocerebellar Ataxia 48
Dystonia, Gait ataxia, Tremor, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... OMIM:618093
Hypermanganesemia With Dystonia 2
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atro... OMIM:617013
Spinocerebellar Ataxia Type 14
Tremor, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Somatic sensory dysfunction, Cer... ORPHA:98763
Behr Syndrome
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... OMIM:210000
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Tremor, Babinski sign, Ataxia, Spasticity OMIM:611105
Autosomal Recessive Spastic Paraplegia Type 67
Difficulty walking, Cerebral cortical atrophy, Spastic gait, Lower limb spasticity, Limb tremor, ... ORPHA:401820
Neuronopathy, Distal Hereditary Motor, Type Viia
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Lipoid Congenital Adrenal Hyperplasia
Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Incr... OMIM:607616
Spinocerebellar Ataxia, Autosomal Recessive 2
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... OMIM:213200
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Respirator... ORPHA:470
Adult Neuronal Ceroid Lipofuscinosis
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... ORPHA:79262
Epilepsy, Progressive Myoclonic, 11
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait OMIM:618387
Spinocerebellar Ataxia 19
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... OMIM:607346
Spinocerebellar Ataxia, Autosomal Recessive 6
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:608029
Pseudohypoaldosteronism, Type Iic
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hyperkalemia, Pseudohypoaldosteronism OMIM:614496
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyt... OMIM:600802
Hypoadrenocorticism, Familial
Hyperkalemia, Adrenal insufficiency, Hyponatremia, Adrenal hypoplasia OMIM:240200
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Apraxia, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebellar atrophy, Par... OMIM:300423
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Dystonia, Tremor, Cerebral atrophy, Bradykinesia, Ankle clonus, Cerebellar atrophy, Progressive i... ORPHA:521406
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls OMIM:616921
Ceroid Lipofuscinosis, Neuronal, 8
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Myo... OMIM:600143
X-Linked Spinocerebellar Ataxia Type 4
Difficulty walking, Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign ORPHA:85292
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... ORPHA:251282
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD3-positive T cells... ORPHA:276
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls ORPHA:494526
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Dysdiadochokinesis, Dystonia, Gait ataxia, Tremor, Limb ataxia, Gait disturbance, Abnormal pyrami... OMIM:617145
Primary Dystonia, Dyt13 Type
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... ORPHA:98807
Parkinson Disease 2, Autosomal Recessive Juvenile
Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Bradykinesia, Parkinsonism, Rigidity OMIM:600116
Segawa Syndrome, Autosomal Recessive
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... OMIM:605407
Mental Retardation, Autosomal Recessive 6
Involuntary movements, Dystonia, Tremor, Myoclonus OMIM:611092
Platelet-Activating Factor Acetylhydrolase Deficiency
Increased level of platelet-activating factor OMIM:614278
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Anemia, Splenomegaly, Reduced ... OMIM:616050
Bronchopulmonary Dysplasia
Pulmonary sequestration, Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system... ORPHA:70589
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis OMIM:618425
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating corticosterone level, Hyponatremia, Increased circulating renin level, Decr... OMIM:610600
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Decreased pulmonary function, Emp... ORPHA:60033
Primary Dystonia, Dyt27 Type
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Fo... ORPHA:464440
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... OMIM:314250
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Weight loss, Asthma, Hemoptysis, Pul... ORPHA:1164
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... ORPHA:284324
Huntington Disease-Like 2
Dystonia, Chorea, Weight loss, Bradykinesia, Action tremor, Rigidity OMIM:606438
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... OMIM:615157
Dystonia, Dopa-Responsive
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... OMIM:128230
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Cryptorchidism, Hyponatremia, Congenital hypothyroidism, Hyperkalemia, Precocious puberty OMIM:614736
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... OMIM:617225
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Bradykinesia, Subcortical cerebral atrophy, Cerebral cortical atrophy, Falls, Par... ORPHA:306692
Spinocerebellar Ataxia, Autosomal Recessive 4
Dystonia, Gait ataxia, Tremor, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... OMIM:607317
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... OMIM:610185
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Ataxia, Cerebellar atrophy, Impaired tandem gait, Lower limb spasticity, Myoclonus, Dysme... OMIM:619028
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity ORPHA:401901
Spinocerebellar Ataxia, Autosomal Recessive 7
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... OMIM:609270
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
X-Linked Progressive Cerebellar Ataxia
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... ORPHA:1175
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia OMIM:609153
Congenital Cerebellar Ataxia Due To Rnu12 Mutation
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Decreased live... ORPHA:512260
Glutathionuria
Tremor OMIM:231950
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 25
Dysmetria, Cerebellar hypoplasia, Ataxia, Truncal ataxia OMIM:617584
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tremor, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculat... OMIM:618170
Spinocerebellar Ataxia, Autosomal Recessive 13
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Retrocerebel... OMIM:614831
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Distal sensory impairment, St... OMIM:607250
Mental Retardation, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia OMIM:617831
Paralysis Agitans, Juvenile, Of Hunt
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity OMIM:168100
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... OMIM:300894
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor OMIM:616736
Dystonia 27
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia OMIM:616411
Spastic Paraplegia 30, Autosomal Dominant
Spastic paraplegia, Ataxia, Ankle clonus, Cerebellar atrophy, Spastic gait, Lower limb spasticity... OMIM:610357
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Impaired distal proprioception, Global brain atrophy, Pain insensitivity, A... ORPHA:94124
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal... ORPHA:404
Parkinson Disease 15, Autosomal Recessive Early-Onset
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... OMIM:260300
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... ORPHA:453521
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Neuroectodermal Melanolysosomal Disease
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Subcortical cerebral atrophy, Cerebral cortica... ORPHA:33445
Spinocerebellar Ataxia, X-Linked 5
Ataxia, Action tremor OMIM:300703
Parkinsonism With Spasticity, X-Linked
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity OMIM:300911
Pseudohypoparathyroidism, Type Ii
Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormo... OMIM:203330
Autosomal Spastic Paraplegia Type 58
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Cerebral atrophy, Abnormal pyrami... ORPHA:397946
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... ORPHA:314632
Spinocerebellar Ataxia 15
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy OMIM:606658
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Hyponatremia, Increased circulating renin level, Hyperaldos... OMIM:177735
Spinocerebellar Ataxia Type 17
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... ORPHA:98759
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment OMIM:615048
Hyperkalemic Periodic Paralysis
Hyperkalemia OMIM:170500
Infantile Neuronal Ceroid Lipofuscinosis
Dystonia, Tremor, Clumsiness, Chorea, Cerebral atrophy, Poor fine motor coordination, Ataxia, Bra... ORPHA:79263
Spinocerebellar Ataxia Type 27
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... ORPHA:98764
Spastic Paraplegia, Ataxia, And Mental Retardation
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Spastic gait... OMIM:607565
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Spinocerebellar Ataxia 42
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... OMIM:616795
Parkinson Disease 19A, Juvenile-Onset
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... OMIM:615528
Spinocerebellar Ataxia 7
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... OMIM:164500
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebral atrophy, Neurodegenerati... OMIM:617672
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Limb ataxia... OMIM:208920
Huntington Disease-Like 1
Gait ataxia, Clumsiness, Incoordination, Chorea, Gait disturbance, Poor fine motor coordination, ... ORPHA:157941
Gerstmann-Straussler Disease
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Weight loss, Cerebellar ... OMIM:137440
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Degeneration of anterior horn cells, Distal sensory impairment, Tetraplegia, Fa... OMIM:604484
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Partial IgA deficiency, Lack of T cell function, ... ORPHA:35078
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Late-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... ORPHA:556037
Spinocerebellar Ataxia, Autosomal Recessive 26
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebellar at... OMIM:617633
Epilepsy, Progressive Myoclonic, 1B
Tremor, Babinski sign, Dysmetria OMIM:612437
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppress... ORPHA:403
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Increased circulating renin ... OMIM:203400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased proportion of CD... ORPHA:331206
Parkinson Disease 14, Autosomal Recessive
Dystonia, Apraxia, Clumsiness, Tremor, Global brain atrophy, Bradykinesia, Frontotemporal cerebra... OMIM:612953
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Hypertonia, Cerebral atrophy, Abnormal pyramidal sign, Bradykinesia, Ankle clon... OMIM:617435
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... ORPHA:1170
Spastic Paraplegia 6, Autosomal Dominant
Degeneration of the lateral corticospinal tracts, Spastic paraplegia, Tremor, Lower limb spastici... OMIM:600363
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperactive renin-angiotensin system, Hyponatremia, Hyperaldosteronism, Pseudohypoaldosteronism, ... OMIM:264350
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Spinocerebellar Ataxia Type 2
Postural tremor, Dystonia, Gait ataxia, Kinetic tremor, Cerebellar Purkinje layer atrophy, Chorea... ORPHA:98756
Basal Ganglia Calcification, Idiopathic, 1
Dysdiadochokinesis, Dystonia, Dense calcifications in the cerebellar dentate nucleus, Limb dysmet... OMIM:213600
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Dystonia, Chorea, Abnormal pyramidal sign, Bradykinesia, Ataxia, Abnormal cerebellum morphology, ... OMIM:618317
Corticobasal Syndrome
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... ORPHA:454887
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Gait ataxia, Cachexia, Weight loss OMIM:612075
Hyperaldosteronism, Familial, Type Iii
Decreased circulating renin level, Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism OMIM:613677
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Cerebellar atrophy, Torticollis... ORPHA:71517
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Gait ataxia, Truncal ataxia, Head tremor, Cerebral atrophy, Abnormal pyramidal sign, Progressive ... ORPHA:352641
Glycosylphosphatidylinositol Biosynthesis Defect 15
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... OMIM:617810
Developmental Delay And Seizures With Or Without Movement Abnormalities
Dystonia, Tremor, Arnold-Chiari type I malformation, Ataxia, Bradykinesia, Rigidity OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 14
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity OMIM:615386
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Reduced natural killer cell count, Decreased ... OMIM:242860
Huntington Disease
Inability to walk, Dystonia, Decreased body mass index, Clumsiness, Rigidity, Difficulty walking,... ORPHA:399
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... ORPHA:216873
X-Linked Lymphoproliferative Disease
Lymphocytosis, Pancytopenia, Histiocytosis, Increased B cell count, Increased proportion of CD25+... ORPHA:2442
Spinocerebellar Ataxia Type 28
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 18
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... OMIM:616204
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Increased circulating IgE level, He... ORPHA:443811
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Cerebellar atrophy, Unsteady gait ORPHA:284271
Spinocerebellar Ataxia 17
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Limb ataxia, Chorea, Ataxia, Bradykinesia,... OMIM:607136
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic se... OMIM:618883
Atypical Juvenile Parkinsonism
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... ORPHA:391411
Combined Oxidative Phosphorylation Deficiency 45
Failure to thrive, Tremor, Ataxia OMIM:618951
Spinocerebellar Ataxia Type 21
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... ORPHA:98773
Pulmonary Fibrosis, Idiopathic
Dyspnea, Exertional dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Cough, Elevated broncho... OMIM:178500
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... ORPHA:352403
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... ORPHA:139485
X-Linked Intellectual Disability, Hedera Type
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... ORPHA:93952
Monomelic Amyotrophy
Fasciculations, Tremor, Degeneration of anterior horn cells ORPHA:65684
Parkinson Disease 22, Autosomal Dominant
Gait disturbance, Tremor, Resting tremor, Bradykinesia OMIM:616710
Early-Onset Familial Hypoaldosteronism
Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Decreased circu... ORPHA:556030
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Spinocerebellar Ataxia 5
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Inten... OMIM:600224
Spinocerebellar Ataxia Type 29
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... ORPHA:208513
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Dysgammaglobulinemia, Increased ... OMIM:300291
Glut1 Deficiency Syndrome 2
Dystonia, Tremor, Cerebral atrophy, Ataxia, Choreoathetosis OMIM:612126
Peroxisome Biogenesis Disorder 5B
Tremor, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Decreased liver function, Unsteady gait, ... OMIM:614867
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Cln5 Disease
Atrophy/Degeneration affecting the central nervous system, Dysdiadochokinesis, Inability to walk,... ORPHA:228360
Hyperphenylalaninemia, Bh4-Deficient, A
Dystonia, Choreoathetosis, Tremor, Hypertonia, Ataxia, Bradykinesia, Small for gestational age, P... OMIM:261640
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tremor, Incoordination, Hand tremor, Difficulty walking, Paraparesis, Gait disturbance, Toe walki... OMIM:302800
Griscelli Syndrome, Type 2
Hemophagocytosis, Hepatosplenomegaly, Reduced delayed hypersensitivity OMIM:607624
Leukodystrophy, Hypomyelinating, 6
Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Rigidity, Spasticity OMIM:612438
Ataxia-Oculomotor Apraxia 3
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls OMIM:615217
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... OMIM:607688
Spinocerebellar Ataxia 34
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... OMIM:133190
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Thrombocytopenia, B lymphoc... ORPHA:169079
Dystonia 16
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Unsteady gait, Torticollis, Parkinsonism,... ORPHA:210571
Isaac Syndrome
Fasciculations, Weight loss, Distal sensory impairment ORPHA:84142
Spinocerebellar Ataxia 27
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... OMIM:609307
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Ataxia-Oculomotor Apraxia 4
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia OMIM:616267
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Impaired distal proprioception, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty wa... ORPHA:137898
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Gait ataxia, Tremor, Poor motor coordination, Hepatic steatosis, Cerebral atrophy, Tet... ORPHA:363400
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Weight loss, Cachexia, Ataxia OMIM:613662
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Cerebral cortical atrophy, Hyperactivity, Spasticity OMIM:300983
Spinocerebellar Ataxia 44
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity OMIM:617691
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... OMIM:607594
Dystonia 11, Myoclonic
Writer's cramp, Torticollis, Tremor, Myoclonus OMIM:159900
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Bradykinesia, Cerebellar atrophy, Parkin... ORPHA:329284
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia OMIM:141000
Spinocerebellar Ataxia Type 36
Truncal ataxia, Difficulty walking, Limb ataxia, Head tremor, Ataxia, Tongue fasciculations, Loss... ORPHA:276198
Combined Oxidative Phosphorylation Deficiency 15
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Obesity OMIM:614947
Malignant Hyperthermia, Susceptibility To, 2
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154275
Myopathy With Extrapyramidal Signs
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia OMIM:615673
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Increased circulating IgE level, Lack of T cell function, Lymphopenia, B lymph... ORPHA:277
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor OMIM:254900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibody level, Decreased pro... OMIM:300853
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Axial dystonia, Hypertonia, Toe walking, Spastic diplegia, Head titubation, Upper limb ... ORPHA:300605
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus... OMIM:159950
Spinocerebellar Ataxia 4
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... OMIM:600223
Progressive Supranuclear Palsy-Corticobasal Syndrome
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... ORPHA:240103
Urocanic Aciduria
Gait ataxia, Truncal ataxia, Action tremor, Ataxia, Broad-based gait ORPHA:210128
X-Linked Charcot-Marie-Tooth Disease Type 1
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101075
Parkinson Disease 17
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614203
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Liddle Syndrome 3
Hypokalemia OMIM:618126
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Pulmonary Blastoma
Weight loss ORPHA:64741
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Tremor, Myoclonus, Ataxia OMIM:614018
Hodgkin Lymphoma
Hepatomegaly, Weight loss, Ataxia, Splenomegaly ORPHA:98293
Lower Motor Neuron Syndrome With Late-Adult Onset
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... ORPHA:276435
Spinocerebellar Ataxia 8
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atroph... OMIM:608768
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Cerebral atrophy, Ataxia OMIM:618637
Mantle Cell Lymphoma
Weight loss, Splenomegaly ORPHA:52416
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Hyperphenylalaninemia, Bh4-Deficient, C
Dystonia, Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Tremor, Difficulty walking, Hemiparesis, Bradykinesia, Brain atrophy, Parkinsonism, Cer... ORPHA:306669
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Abnormal lower motor... ORPHA:2590
Malignant Hyperthermia, Susceptibility To, 3
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:154276
Spinocerebellar Ataxia 2
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... OMIM:183090
Xeroderma Pigmentosum, Complementation Group G
Tremor, Ataxia, Spasticity OMIM:278780
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly OMIM:609981
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Reduced natural killer ... OMIM:608233
Christianson Syndrome
Aplasia/Hypoplasia of the cerebellum, Dystonia, Gait ataxia, Truncal ataxia, Cerebral cortical at... ORPHA:85278
Primary Dystonia, Dyt2 Type
Torsion dystonia, Tremor, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... ORPHA:99657
Hypokalemic Periodic Paralysis, Type 1
Hypokalemia OMIM:170400
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Choreoathetosis, Tremor, Chorea, Neurodegeneration, Blepharospasm, Ataxia, Bradykinesia... OMIM:606159
Aicardi-Goutieres Syndrome 6
Dystonia, Loss of ability to walk, Tremor, Rigidity OMIM:615010
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Spinocerebellar Ataxia, X-Linked 4
Tremor, Abnormal pyramidal sign, Ataxia OMIM:301840
Spinocerebellar Ataxia Type 19/22
Cogwheel rigidity, Truncal ataxia, Difficulty walking, Limb ataxia, Slurred speech, Poor coordina... ORPHA:98772
Hyperparathyroidism 1
Hypercalcemia, Primary hyperparathyroidism OMIM:145000
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia OMIM:268200
Hypokalemic Periodic Paralysis, Type 2
Hypokalemia OMIM:613345
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
X-Linked Charcot-Marie-Tooth Disease Type 4
Gait disturbance, Tremor, Ataxia, Impaired pain sensation ORPHA:101078
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypercholesterolemia, Dystonia, Postural tremor, Head tremor, Abnormal pyramidal sign, Oculomotor... ORPHA:64753
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spasticity OMIM:612716
Myopathy, Spheroid Body
Tremor, Waddling gait, Broad-based gait OMIM:182920
Tuberculosis
Weight loss ORPHA:3389
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Writer's cramp, Paroxysmal dystonia, Tremor, Myoclonus OMIM:608105
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Emphysema ORPHA:60
Parathyroid Carcinoma
Parathyroid carcinoma, Hypercalcemia, Hyperparathyroidism OMIM:608266
Spastic Tetraplegia And Axial Hypotonia, Progressive
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Cerebellar atrop... OMIM:618598
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Pneumothorax ORPHA:122
Familial Hyperaldosteronism Type Iii
Abnormal circulating renin, Adrenal hyperplasia, Hypokalemia, Glucocortocoid-insensitive primary ... ORPHA:251274
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Emphysema, Lymphopenia, Recurrent bronchopulmonary infecti... OMIM:242700
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Inability to walk, Dystonia, Tremor, Difficulty walking, Cerebellar atrophy, Oculogyric crisis, D... ORPHA:330050
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Spastic Paraplegia 39, Autosomal Recessive
Gait disturbance, Atrophy of the spinal cord, Ataxia, Cerebellar atrophy, Babinski sign, Progress... OMIM:612020
Fragile X Tremor/Ataxia Syndrome
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, B... OMIM:300623
Hsd10 Disease
Tremor, Choreoathetosis, Spastic paraparesis, Gait disturbance, Ataxia, Frontotemporal cerebral a... ORPHA:391417
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Inability to walk, Dystonia, Gait ataxia, Truncal ataxia, Choreoathetosis, Tremor, Hypertonia, Ce... OMIM:618877
Jaberi-Elahi Syndrome
Inability to walk, Dystonia, Gait ataxia, Tremor, Cerebellar atrophy, Dysmetria, Failure to thriv... OMIM:617988
Hypophosphatasia
Emphysema, Respiratory insufficiency, Failure to thrive in infancy, Hypercalcemia, Anemia ORPHA:436
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Caribbean Parkinsonism
Dystonia, Apraxia, Progressive gait ataxia, Bradykinesia, Weakness due to upper motor neuron dysf... ORPHA:97355
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Gait ataxia, Difficulty walking, Cerebellar hypoplasia, Oculomotor apraxia, Cerebellar at... ORPHA:529665
Primary Unilateral Adrenal Hyperplasia
Decreased circulating renin level, Adrenal hyperplasia, Hypokalemia, Glucocortocoid-insensitive p... ORPHA:231580
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia OMIM:145600
Spinocerebellar Ataxia Type 18
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria ORPHA:98771
Adult-Onset Cervical Dystonia, Dyt23 Type
Axial dystonia, Difficulty walking, Head tremor, Craniofacial dystonia, Writer's cramp, Cerebral ... ORPHA:420492
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Spinocerebellar Ataxia, Autosomal Recessive 11
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia OMIM:614229
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Tremor, Difficulty walking, Failure to thrive, Babinski sign, Broad-based gait ORPHA:477673
Autosomal Dominant Cerebellar Ataxia
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... ORPHA:99
Atypical Rett Syndrome
Inability to walk, Pill-rolling tremor, Dystonia, Gait ataxia, Apraxia, Tremor, Gait disturbance,... ORPHA:3095
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Parkinsonism With Polyneuropathy
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Di... OMIM:619279
Dentatorubral Pallidoluysian Atrophy
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Choreoathetosis, Limb ataxia, Blepharospasm, Ata... ORPHA:101
Hypermanganesemia With Dystonia 1
Cirrhosis, Dystonia, Tremor, Elevated hepatic transaminase, Spastic paraparesis, Abnormality of e... OMIM:613280
Spinocerebellar Ataxia 21
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramida... OMIM:607454
Pseudohypoaldosteronism Type 2
Hyperkalemia ORPHA:757
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Perry Syndrome
Tremor, Parkinsonism, Weight loss, Abnormality of extrapyramidal motor function ORPHA:178509
Urocanase Deficiency
Tremor, Ataxia OMIM:276880
X-Linked Charcot-Marie-Tooth Disease Type 3
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... ORPHA:101077
X-Linked Dystonia-Parkinsonism
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... ORPHA:53351
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus OMIM:618587
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Increased circulating ... ORPHA:90791
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
4H Leukodystrophy
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Progressive g... ORPHA:289494
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dystonia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:605909
Analbuminemia
Hypercholesterolemia, Elevated circulating transferrin concentration, Increased LDL cholesterol c... OMIM:616000
X-Linked Parkinsonism-Spasticity Syndrome
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Bradykinesia, Ankle clonus, Babinski sign... ORPHA:363654
Parkinsonism-Dystonia, Infantile, 1
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... OMIM:613135
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tremor, Gait ataxia, Hypertonia, Ataxia, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Inten... OMIM:616505
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Tremor, Myoclonus OMIM:613608
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Kufor-Rakeb Syndrome
Spastic paraplegia, Dystonia, Tremor, Akinesia, Parkinsonism with favorable response to dopaminer... OMIM:606693
Atypical Progressive Supranuclear Palsy Syndrome
Tremor, Extrapyramidal muscular rigidity, Speech apraxia, Abnormal pyramidal sign, Blepharospasm,... ORPHA:99750
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysdiadochokinesis, Babinski sign, Intention tremor, Dysmetria, Clonus, Nonprogressive cerebellar... OMIM:301310
X-Linked Charcot-Marie-Tooth Disease Type 5
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation ORPHA:99014
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Brain atrophy, Myoclonus, St... OMIM:619092
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Goiter, Hyperthyroidism OMIM:613239
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Hypertonia, Babinski sign, Distal sensory impairment, Steppage gait, Spasticity OMIM:609260
Crigler-Najjar Syndrome Type 1
Prolonged neonatal jaundice, Tremor, Abnormality of the liver, Biliary tract abnormality ORPHA:79234
Gabriele-De Vries Syndrome
Dystonia, Tremor, Waddling gait OMIM:617557
Xeroderma Pigmentosum, Complementation Group F
Decreased body weight, Tremor, Ataxia, Brain atrophy OMIM:278760
Undifferentiated Pleomorphic Sarcoma
Abnormality of the peritoneum, Weight loss ORPHA:2023
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Weight loss, Splenomegaly ORPHA:79238
Spinocerebellar Ataxia Type 10
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Progressive cerebellar ataxia, Cerebellar atroph... ORPHA:98761
Classic Pantothenate Kinase-Associated Neurodegeneration
Inability to walk, Gait disturbance, Toe walking, Weight loss, Opisthotonus, Generalized dystonia... ORPHA:216866
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, ... ORPHA:240085
Liddle Syndrome 1
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level OMIM:177200
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Cholelithiasis, Increased circulating renin level, Glucocortocoid-insensitive prima... ORPHA:171876
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia, Central diabetes insipidus OMIM:304900
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Tremor, Blepharospasm, Writer's cramp, Torticollis, Limb dystonia, Oromandibula... OMIM:607671
Fanconi Renotubular Syndrome 5
Hypophosphatemia, Pulmonary fibrosis, Emphysema, Hypophosphatemic rickets, Decreased DLCO, Lung a... OMIM:618913
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Inherited Creutzfeldt-Jakob Disease
Tremor, Gait ataxia, Clumsiness, Global brain atrophy, Senile plaques, Spastic hemiparesis, Slurr... ORPHA:282166
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Increased circul... OMIM:241150
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Abnormality of coordination, Difficulty walking, Cerebral atrophy, Ataxia, Brain atrophy,... ORPHA:442835
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Hyperactive renin-angiotensin system, Hyponatremia, Macroor... ORPHA:90790
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Primary Pigmented Nodular Adrenocortical Disease
Pigmented micronodular adrenocortical disease, Hypogonadism, Adrenal hyperplasia, Diabetes mellitus ORPHA:189439
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Decreased circulating antibody level, Neutropenia, Thrombocytopenia, Anemia, Sp... ORPHA:540
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Obesity, Lower limb spasticity, Parkinsonism, Hyperactivity, Shuffling ga... ORPHA:3077
Wilson Disease
Acute hepatitis, Cirrhosis, Clumsiness, Elevated hepatic transaminase, Difficulty walking, Hepati... ORPHA:905
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... ORPHA:90117
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Tremor, Incoordination, Pontocerebellar atrophy, Eyelid myoclonus, Cerebellar hypoplasia, Abnorma... OMIM:618060
Parkinson Disease 7, Autosomal Recessive Early-Onset
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... OMIM:606324
Spinocerebellar Ataxia Type 42
Gait ataxia, Head tremor, Impaired vibration sensation at ankles, Resting tremor, Abnormal cerebe... ORPHA:458803
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Goiter, Hyperthyroidism OMIM:188580
Familial Hypoaldosteronism
Hyponatremia, Increased circulating renin level, Adrenal insufficiency, Decreased circulating ald... ORPHA:427
Intellectual Developmental Disorder, X-Linked 12
Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Hyperkinetic movements, Abnormal cerebell... OMIM:300957
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait OMIM:300055
Familial Dyskinesia And Facial Myokymia
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus ORPHA:324588
Gillespie Syndrome
Postural tremor, Slurred speech, Cerebellar hypoplasia, Ataxia OMIM:206700
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Intention tremor, Re... ORPHA:247234
Brain Dopamine-Serotonin Vesicular Transport Disease
Dysdiadochokinesis, Dystonia, Tremor, Abnormality of coordination, Gait disturbance, Hypertonia, ... ORPHA:352649
Riboflavin Transporter Deficiency
Tremor, Ataxia, Cerebral cortical atrophy, Myoclonus, Cachexia ORPHA:97229
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Ataxia With Vitamin E Deficiency
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... ORPHA:96
Late-Infantile/Juvenile Krabbe Disease
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... ORPHA:206443
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Oromandibular Dystonia
Hyperkinetic movements, Blepharospasm, Weight loss, Lingual dystonia, Laryngeal dystonia, Tortico... ORPHA:93958
Proximal Myopathy With Extrapyramidal Signs
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... ORPHA:401768
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Tremor, Brain atrophy, Stereotypy, Hyperactivity, Spasticity OMIM:618718
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Cirrhosis, Elevated circulating alanine aminotransferase concentration... ORPHA:90003
Spinocerebellar Ataxia Type 8
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Spasticity, Ataxia, Bradykinesi... ORPHA:98760
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Hand tremor, Blepharospasm, Torticollis, Upper limb postural tremor, Myoclonus, Limb dystonia, Or... ORPHA:420485
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Dystonia, Tremor, Bradykinesia, Oculogyric crisis, Limb hypertonia, Small for gestational age, Ri... ORPHA:70594
Epilepsy, Familial Adult Myoclonic, 5
Tremor OMIM:615400
Dopa-Responsive Dystonia
Inability to walk, Dystonia, Lethargy, Tremor, Abnormality of extrapyramidal motor function, Diff... ORPHA:255
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Congenital hypoparathyroidism, Hypomagnesemia, Parathyroid agenesis, Hyperphosphate... ORPHA:2239
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Precocious ... OMIM:202010
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Impaired T ce... OMIM:240500
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Vestibular areflexia, Positive Romberg sign, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy OMIM:614575
Perry Syndrome
Dystonia, Tremor, Akinesia, Bradykinesia, Weight loss, Parkinsonism, Short stepped shuffling gait... OMIM:168605
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Ataxia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:201100
Idiopathic Achalasia
Weight loss ORPHA:930
Neuronal Intranuclear Inclusion Disease
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity OMIM:603472
Adult-Onset Autosomal Dominant Leukodystrophy
Aplasia/Hypoplasia of the cerebellum, Hypertonia, Tetraparesis, Head titubation, Spastic gait, Im... ORPHA:99027
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Pelizaeus-Merzbacher Disease
Dystonia, Gait disturbance, Ataxia, Failure to thrive in infancy, Cerebral cortical atrophy, Cach... ORPHA:702
Neurodegeneration With Brain Iron Accumulation 4
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Neurodegenerati... OMIM:614298
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Hypoparathyroidism, Adrenal calcification, Primary ad... ORPHA:85138
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Dystonia, Gait ataxia, Tremor, Progressive gait ataxia, Limb ataxia, Pontocerebellar atrophy, Hea... OMIM:606002
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Distal sensory impairment OMIM:616668
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Galactosemia
Postural tremor, Cirrhosis, Dystonia, Lethargy, Elevated hepatic transaminase, Abnormality of ext... ORPHA:352
Oculopharyngodistal Myopathy
Vocal cord paresis, Difficulty walking, Loss of ability to walk, Weight loss, Paraplegia ORPHA:98897
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level OMIM:218030
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Hyperphenylalaninemia, Bh4-Deficient, B
Dystonia, Lethargy, Choreoathetosis, Tremor, Hyperkinetic movements, Limb hypertonia, Rigidity OMIM:233910
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Tremor, Gait ataxia, Hypertonia, Abnormal cerebellum morphology, Cerebellar atrophy, Dysmetria, T... OMIM:618056
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Leukopenia, Hepatosplenom... OMIM:603553
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar d... ORPHA:457240
Aceruloplasminemia
Dystonia, Gait ataxia, Tremor, Akinesia, Limb ataxia, Chorea, Blepharospasm, Ataxia, Craniofacial... ORPHA:48818
Epilepsy, Familial Adult Myoclonic, 1
Tremor OMIM:601068
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic anem... ORPHA:572
Congenital Bile Acid Synthesis Defect Type 4
Cirrhosis, Tremor, Biliary tract abnormality, Cholestasis, Hepatomegaly ORPHA:79095
Tremor, Nystagmus, And Duodenal Ulcer
Kinetic tremor, Abnormal cerebellum morphology, Tremor OMIM:190310
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome