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Gene: Psd3 MGI:1918215

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Gene Summary

Name:
pleckstrin and Sec7 domain containing 3
Synonyms:
4931420C21Rik,  EFA6D

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
impaired cued conditioning behavior Psd3em1(IMPC)H HOM   Late adult 2.37×10-06
tremors Psd3em1(IMPC)H HOM Early adult 1.26×10-07
increased cardiac stroke volume Psd3em1(IMPC)H HOM Late adult 2.56×10-10
increased cardiac output Psd3em1(IMPC)H HOM Late adult 1.05×10-09
increased freezing behavior Psd3em1(IMPC)H HOM Late adult 1.69×10-13
increased bone mineral density Psd3em1(IMPC)H HOM Late adult 1.58×10-10
increased bone mineral content Psd3em1(IMPC)H HOM Late adult 1.40×10-06
prolonged QRS complex duration Psd3em1(IMPC)H HOM Early adult 3.61×10-06
decreased circulating total protein level Psd3em1(IMPC)H HOM Early adult 1.20×10-05

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lacZ Expression

Expression data not available

Associated Images

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

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M-Mode Images

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Human diseases caused by Psd3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Psd3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Episodic Ataxia, Type 1
Elevated circulating creatine kinase concentration, Tremor, Slurred speech, Spastic gait, Babinsk... OMIM:160120
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis OMIM:311050
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia OMIM:613227
Tremor, Hereditary Essential, 6
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor OMIM:616736
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:619491
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Dystonia 27
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Primary Dystonia, Dyt27 Type
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... ORPHA:464440
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... ORPHA:98769
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Dystonia 3, Torsion, X-Linked
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... OMIM:314250
Brugada Syndrome
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... ORPHA:130
Episodic Ataxia With Slurred Speech
Tremor, Gait ataxia, Slurred speech ORPHA:401953
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Transient hyperphenylalaninemia, Hypertonia, Hyperphenylalaninemia OMIM:264070
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... ORPHA:45453
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... OMIM:113900
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Autosomal Recessive Spastic Paraplegia Type 71
Hand tremor, Progressive spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity ORPHA:401840
Familial Progressive Cardiac Conduction Defect
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure ORPHA:871
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Cardiomyopathy, Dilated, 1U
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... OMIM:613694
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Ventricular Tachycardia, Familial
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor OMIM:608687
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... OMIM:604559
Primary Dystonia, Dyt13 Type
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... ORPHA:98807
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... OMIM:612877
Cardiomyopathy, Dilated, 1E
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... OMIM:601154
Buschke-Ollendorff Syndrome
Flexion contracture, Osteopoikilosis, Joint stiffness OMIM:166700
Brugada Syndrome 2
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... OMIM:611777
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Myoclonus, Involuntary movements OMIM:611092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Epsilon wave, Increased circulating creatine kinase MB isoform, Right ve... OMIM:610193
Brugada Syndrome 1
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... OMIM:601144
Myoclonus, Familial, 1
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus OMIM:614937
Dystonia 23
Limb dystonia, Torticollis, Axial dystonia, Arrhythmia, Writer's cramp, Head tremor, Myoclonus OMIM:614860
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Cardiomyopathy, Tremor, Myoclonus, Dystonia OMIM:619647
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... OMIM:614561
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Mildly elevated creatine kinase OMIM:614369
Sandhoff Disease, Adult Form
Spasticity, Focal dystonia, Elevated circulating creatine kinase concentration, Tremor, Gait atax... ORPHA:309169
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Parkinsonism With Spasticity, X-Linked
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign OMIM:300911
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Segawa Syndrome, Autosomal Recessive
Limb dystonia, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abn... OMIM:605407
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... OMIM:613697
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia OMIM:618425
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Dementia, Increased bone density w... OMIM:136300
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... OMIM:616117
Episodic Kinesigenic Dyskinesia 2
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea OMIM:611031
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Clavicular sclerosis OMIM:615198
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Left bundle branch block, Congestive heart failure, Increased left ventricu... OMIM:601493
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... OMIM:260300
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... OMIM:607688
Spinocerebellar Ataxia 43
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia OMIM:617018
Dystonia, Dopa-Responsive
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... OMIM:128230
Spinocerebellar Ataxia 40
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... OMIM:616053
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Babinski sign, Ataxia, Tremor OMIM:611105
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Spinocerebellar Ataxia Type 20
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... ORPHA:101110
Spinal Muscular Atrophy, Jokela Type
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:615048
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Spinocerebellar Ataxia Type 31
Spasticity, Gait ataxia, Tremor ORPHA:217012
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... OMIM:614954
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... OMIM:600858
Tremor, Hereditary Essential, 2
Upper limb postural tremor, Kinetic tremor OMIM:602134
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular outflow tract obstruction, Severely reduced left ventri... OMIM:613251
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Isolated Osteopoikilosis
Sclerosis of foot bone, Increased bone mineral density, Sclerotic foci in hand bones, Joint stiff... ORPHA:166119
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Reduced left ventricular ejection fractio... OMIM:613838
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Myoclonus, Babinski sign, Dysmetria OMIM:612437
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block OMIM:615616
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... OMIM:618920
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Ataxia, Hemiplegia, Increased total bil... OMIM:267700
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Hypophosphatemic Rickets, Autosomal Recessive, 1
Craniosynostosis, Rickets, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Dystonia 13, Torsion, Autosomal Dominant
Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... OMIM:607671
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Mitral regurgitation, Reduced left ventricular ejection fr... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Ventricular tachycardia, Syncope, Palpitations, A... OMIM:612098
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Ventricular tachycardia, Hyperammonemia, Tachycardia, Arrhythmia, Elevated circu... ORPHA:26793
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Hypertriglyceridemia, Myoclonu... OMIM:615924
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 26
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... OMIM:617047
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis ORPHA:564003
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Craniosynostosis, Increased bone mineral density ORPHA:178377
Primary Dystonia, Dyt2 Type
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... ORPHA:99657
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Tremor, Gait ataxia, My... OMIM:607317
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Frequent falls, Hemiballismus, Tremor, Chorea ORPHA:494526
Glycogen Storage Disease Xv
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... OMIM:613507
Long Qt Syndrome 10
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... OMIM:611819
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... OMIM:608758
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Sclerosteosis
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density ORPHA:3152
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Hypermanganesemia, Tremor, Bradykinesia, Or... ORPHA:521406
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Cardiomyopathy, Dilated, 2G
Monomorphic ventricular tachycardia, Mitral regurgitation, Cerebral hemorrhage, Multifocal atrial... OMIM:619897
Dystonia 24
Torticollis, Blepharospasm, Limb tremor, Head tremor, Oromandibular dystonia, Arm dystonia OMIM:615034
Spinocerebellar Ataxia 38
Limb ataxia, Ataxia, Tremor, Gait ataxia, Myoclonus OMIM:615957
Mueller-Weiss Syndrome
Knee osteoarthritis, Sclerosis of foot bone, Joint stiffness, Arthritis, Limitation of movement a... ORPHA:566943
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... OMIM:614049
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... OMIM:611302
Atrial Septal Defect, Sinus Venosus Type
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... ORPHA:99105
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Tremor, Fasciculations OMIM:182980
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Chorea, Congestive heart failure, Resting tremor, Myoclonus, Dilated cardiomyopa... ORPHA:324588
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Congenital Disorder Of Glycosylation, Type Ij
Tremor, Hypoproteinemia, Hypertonia OMIM:608093
Dystonia 16
Abnormal pyramidal sign, Limb dystonia, Parkinsonism, Torticollis, Postural tremor, Bradykinesia ORPHA:210571
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Parkinson Disease 17
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor OMIM:614203
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Increased alpha-globulin, Hypercholesterolem... ORPHA:86816
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
X-Linked Non Progressive Cerebellar Ataxia
Frequent falls, Nonprogressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Intention tremo... ORPHA:314978
Citrullinemia Type Ii
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Tremor, Hyperlipidemia, Hypert... ORPHA:247585
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 2
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Hypertrop... OMIM:115195
Basal Ganglia Calcification, Idiopathic, 1
Abnormal pyramidal sign, Parkinsonism, Abnormal circulating calcium concentration, Rigidity, Chor... OMIM:213600
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Optic Atrophy 3, Autosomal Dominant
Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Epilepsy, Progressive Myoclonic 7
Tremor, Myoclonus, Ataxia OMIM:616187
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Arrhythmia, ... OMIM:181350
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Dengue Fever
Hypoproteinemia, Hypotension, Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis ORPHA:99828
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... ORPHA:420485
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration OMIM:300376
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures OMIM:166740
Hyperphenylalaninemia, Bh4-Deficient, C
Hyperphenylalaninemia, Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia OMIM:261630
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia OMIM:256300
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones OMIM:607634
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... ORPHA:98762
Long Qt Syndrome 2
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613688
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoproteinemia, Ataxia, Hemiplegia, Increased total bilirubin, Hypertriglyceridemia, Tetraplegia... OMIM:603553
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy, Elevated circulating creatine kinase concentration OMIM:309930
Dystonia 11, Myoclonic
Tremor, Torticollis, Myoclonus, Writer's cramp OMIM:159900
Corticobasal Syndrome
Limb myoclonus, Limb dystonia, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... ORPHA:454887
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... ORPHA:314632
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Chorea, Congestive heart failure, Myoclonus, Resting tremor, Dilated cardiomyopa... OMIM:606703
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia OMIM:615768
Atypical Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Clumsiness, Rig... ORPHA:216873
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Cardiomyopathy, Dystonia, Tremor OMIM:619651
Migraine, Familial Hemiplegic, 1
Tremor, Hemiplegia, Hemiparesis, Ataxia OMIM:141500
Spinocerebellar Ataxia 18
Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dysmetria OMIM:607458
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:2494
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Right bundle branch block, Elevate... ORPHA:206559
Parkinson Disease 7, Autosomal Recessive Early-Onset
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... OMIM:606324
Dystonia 28, Childhood-Onset
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... OMIM:617284
Scapuloperoneal Myopathy, X-Linked Dominant
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:300695
Neurodegeneration With Brain Iron Accumulation 3
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Writer's cramp, Bradykinesia, ... OMIM:606159
Spinocerebellar Ataxia 12
Parkinsonism, Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Head tremor, Act... OMIM:604326
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... OMIM:604772
Sick Sinus Syndrome 1
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... OMIM:608567
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... OMIM:619464
Long Qt Syndrome 14
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... OMIM:616247
Dystonia 7, Torsion
Torticollis, Hand tremor, Blepharospasm, Clumsiness, Writer's cramp, Oromandibular dystonia, Tors... OMIM:602124
Autoimmune Hypoparathyroidism
Increased bone mineral density, Anxiety, Irritability, Ventricular arrhythmia, Abnormal left vent... ORPHA:36913
Osteopetrosis, Autosomal Dominant 2
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... OMIM:166600
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis OMIM:122860
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... OMIM:615344
Refractory Celiac Disease
Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia ORPHA:398063
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Pulmonary embolism, Budd-Chiari syndrome, Hypoalbuminemia OMIM:226300
Parkinsonism-Dystonia 1, Infantile-Onset
Hyperkinetic movements, Limb dystonia, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, ... OMIM:613135
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Urocanic Aciduria
Ataxia, Abnormal circulating histidine concentration, Gait ataxia, Action tremor, Truncal ataxia ORPHA:210128
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor, Hyperkalemia OMIM:609153
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Paraparesis, Elevated circulating guanidinoacetic acid concentration, Decreased serum cre... OMIM:612736
Saccharopinuria
Hyperammonemia, Spastic diplegia, Elevated plasma citrulline, Tremor, Gait ataxia, Hypercystinemi... ORPHA:3124
Progressive Supranuclear Palsy-Corticobasal Syndrome
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... ORPHA:240103
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia ORPHA:363710
Lower Motor Neuron Syndrome With Late-Adult Onset
Elevated circulating creatine kinase concentration, Tremor, Fasciculations, Upper motor neuron dy... ORPHA:276435
Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinsonism, Rigidity, Bradykinesia, Resting tremor, Dystonia OMIM:605909
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculomotor apraxia, Ataxia, Transient hyperphenylalaninemia, Tremor, Choreoathetosis,... OMIM:612716
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Ebstein Anomaly
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... OMIM:224700
Progressive Familial Heart Block, Type Ii
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... OMIM:140400
Spastic Paraplegia 6, Autosomal Dominant
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity OMIM:600363
Autosomal Dominant Spastic Ataxia Type 1
Limb ataxia, Dystonia, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegia, Spastic ga... ORPHA:251282
Brugada Syndrome 9
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope OMIM:616399
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus ORPHA:98763
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Torsion dystonia, Blepharospasm OMIM:224500
Long Qt Syndrome 6
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... OMIM:613693
Parkinson Disease 22, Autosomal Dominant
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia, Resting ... OMIM:616710
Intermediate Osteopetrosis
Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormality of bone mineral ... ORPHA:210110
Long Qt Syndrome 9
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... OMIM:611818
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Cardiac arrest, Ataxia OMIM:618951
Glut1 Deficiency Syndrome 2
Reduced haptoglobin level, Ataxia, Tremor, Choreoathetosis, Dystonia OMIM:612126
Epilepsy, Progressive Myoclonic, 6
Tremor, Elevated circulating creatine kinase concentration, Myoclonus, Ataxia OMIM:614018
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Arrhythmia, Palpitations, Cardiomyopathy, Abnormal... ORPHA:263297
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Schnitzler Syndrome
Increased bone mineral density, Vasculitis, Arthritis ORPHA:37748
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Abnormal pyramidal sign, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Babi... OMIM:616479
Wolff-Parkinson-White Syndrome
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... OMIM:194200
Dystonia 12
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia OMIM:128235
Cardiomyopathy, Dilated, 1G
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... OMIM:604145
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Joint stiffness, Hypertension, Hyperostosis, Arthri... ORPHA:1306
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Fourth heart sound, Right axis deviation, Sinus tachycardia, Elevated jugular venous pressure, El... OMIM:255160
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Elevated circulating phytanic acid concentration, Hemiparesis, Ataxia, Increased circ... OMIM:614307
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Titubation, Elevated circulating creatine kinase concentration, Tremor, Increased serum p... OMIM:619405
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Dysmetria OMIM:618387
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Monomelic Amyotrophy
Tremor, Fasciculations ORPHA:65684
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign OMIM:615362
Neurodegeneration With Brain Iron Accumulation 7
Dystonia, Increased circulating very long-chain fatty acid concentration, Ataxia, Tremor, Lower l... OMIM:617916
Crigler-Najjar Syndrome Type 1
Tremor, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Spinocerebellar Ataxia 7
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... OMIM:164500
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Ataxia, Dysmetria OMIM:617917
Spinocerebellar Ataxia 50
Ataxia, Postural tremor, Apraxia, Chorea, Head tremor, Myoclonus, Action tremor OMIM:620158
Spinocerebellar Ataxia 23
Limb ataxia, Tremor, Gait ataxia, Babinski sign, Dysmetria OMIM:610245
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Hematochezia, Cardiomyopathy, Elevated circulating creatine kinase concentration... OMIM:615895
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia OMIM:619099
Spinocerebellar Ataxia 48
Parkinsonism, Ataxia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria OMIM:618093
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus OMIM:613608
Autosomal Spastic Paraplegia Type 58
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... ORPHA:397946
Brugada Syndrome 3
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... OMIM:611875
Proximal Myopathy With Extrapyramidal Signs
Ataxia, Cardiomyopathy, Progressive extrapyramidal movement disorder, Chorea, Resting tremor, Pro... ORPHA:401768
Familial Short Qt Syndrome
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... ORPHA:51083
Brugada Syndrome 7
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... OMIM:613120
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Abnormal pyramidal sign, Oculomotor apraxia, Hypercholesterolemia, Ataxia, Elevated circulating a... ORPHA:64753
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Ankle clonus, Cogwheel rigidity, Scissor gait, Bradykinesia, Resting tremor, Babinski... ORPHA:363654
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... OMIM:617145
X-Linked Dystonia-Parkinsonism
Frequent falls, Limb dystonia, Hand tremor, Blepharospasm, Parkinsonism with favorable response t... ORPHA:53351
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Elevated circulating creatine kinase concentration, Fasciculations OMIM:313200
Cystathioninuria
Tremor, Cystathioninemia ORPHA:212
Hypermanganesemia With Dystonia 1
Parkinsonism, Abnormality of extrapyramidal motor function, Rigidity, Hypermanganesemia, Tremor, ... OMIM:613280
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:617836
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Coenzyme Q10 Deficiency, Primary, 9
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria OMIM:619028
Chédiak-Higashi Syndrome
Hypoproteinemia, Parkinsonism, Ataxia, Tremor, Hypertriglyceridemia, Spastic paraplegia, Increase... ORPHA:167
Parkinson Disease 21
Tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:616361
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Hyperphenylalaninemia, Bh4-Deficient, A
Parkinsonism, Hyperphenylalaninemia, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hyp... OMIM:261640
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Mitral regurgitation, Arrhythmia, Palpitations, Aortic re... ORPHA:75566
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Multiple System Atrophy
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Raynaud phenomenon, Progressive cerebellar... ORPHA:102
Hyperphenylalaninemia, Bh4-Deficient, B
Hyperkinetic movements, Hyperphenylalaninemia, Limb hypertonia, Rigidity, Tremor, Choreoathetosis... OMIM:233910
Parkinson Disease 14, Autosomal Recessive
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Axial dystonia, Clumsiness,... OMIM:612953
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... OMIM:115197
Spinocerebellar Ataxia 15
Limb ataxia, Postural tremor, Gait ataxia, Action tremor, Truncal ataxia OMIM:606658
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... OMIM:612240
Aapoaiv Amyloidosis
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... ORPHA:439232
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Tongue fas... OMIM:159950
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Cardiomyopathy, Dilated, 1A
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... OMIM:115200
Cataract-Ataxia-Deafness Syndrome
Tremor, Hypertonia, Ataxia ORPHA:1368
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones OMIM:167250
Ataxia With Vitamin E Deficiency
Abnormal pyramidal sign, Ataxia, Arrhythmia, Hemiplegia/hemiparesis, Dysdiadochokinesis, Tremor, ... ORPHA:96
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Developmental And Epileptic Encephalopathy 32
Tremor, Myoclonus, Ataxia OMIM:616366
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Axial dystonia, Limb tremor, Focal dystonia, Writer's cramp, Head tremor, Supraventr... ORPHA:420492
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Oculomotor apraxia, Hypercholesterolemia, Ataxia, Elevated circulating creatine kina... OMIM:208920
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... ORPHA:300751
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Incoordination, Dysmetria OMIM:213200
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Ataxia, Tremor OMIM:278780
Hypermanganesemia With Dystonia 2
Spasticity, Limb dystonia, Parkinsonism, Clumsiness, Ankle clonus, Generalized dystonia, Scissor ... OMIM:617013
Myoclonic-Atonic Epilepsy
Tremor, Eyelid myoclonus, Ataxia OMIM:616421
Parkinson-Dementia Syndrome
Tremor, Abnormal pyramidal sign, Parkinsonism, Rigidity OMIM:260540
Parkinsonism-Dystonia 2, Infantile-Onset
Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Incoordination, Dystonia OMIM:618049
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Mitral regurgitation, Systolic heart murmur, Right ventricular f... ORPHA:99103
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Peripartum Cardiomyopathy
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... ORPHA:563
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Myoclonus, Dystonia ORPHA:139485
Parkinsonism-Dystonia 3, Childhood-Onset
Hyperkinetic movements, Parkinsonism, Ataxia, Chorea, Tremor, Action tremor, Hypertonia, Dystonia OMIM:619738
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Abnorma... ORPHA:90650
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... OMIM:615916
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Resting tremor, Bradykinesia, Parkinsonism, Rigidity OMIM:614251
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Hemiparesis, Tremor, Bradykinesia, Dystonia ORPHA:306669
Pseudohypoparathyroidism Type 1B
Diaphyseal sclerosis, Increased bone mineral density, Anxiety, Irritability, Increased bone densi... ORPHA:94089
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Leukodystrophy, Hypomyelinating, 11
Spasticity, Myoclonus, Ataxia, Tremor OMIM:616494
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... OMIM:618877
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Omenn Syndrome
Hypoproteinemia OMIM:603554
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Frequent falls, Right bundle branch block, Elevated circulating creatine kinase concentration ORPHA:254361
Scorpion Envenomation
Myocarditis, Hyperkinetic movements, Ataxia, Increased circulating creatine kinase MB isoform, Ar... ORPHA:466677
Infantile Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... ORPHA:79263
Perry Syndrome
Tremor, Parkinsonism, Abnormality of extrapyramidal motor function, Hypotension ORPHA:178509
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Gait ataxia, Ataxia OMIM:617831
Beta-Propeller Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis ORPHA:329284
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Truncal ataxia, Dysmetria OMIM:610185
Aceruloplasminemia
Parkinsonism, Limb ataxia, Torticollis, Decreased serum iron, Ataxia, Blepharospasm, Decreased ci... ORPHA:48818
Atrial Septal Defect, Ostium Primum Type
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... ORPHA:99106
Naxos Disease
Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palpitations, Arrhythmia, Sudde... OMIM:601214
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... OMIM:615157
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Hypokalemia, Tachycardia OMIM:613239
Atypical Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Focal d... ORPHA:99750
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor, Bradykinesia, ... ORPHA:240085
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Parkinsonism, Hyperphenylalaninemia, Abnormal circulating neopterin concentration, Oculogyric cri... ORPHA:1578
Osteopetrosis, Autosomal Recessive 1
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ... OMIM:259700
Sneddon Syndrome
Hemiparesis, Hypertension, Intracranial hemorrhage, Chorea, Tremor ORPHA:820
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Joint hyperflexibility ORPHA:628
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tetraparesis, Limb dystonia, Abnormal pyramidal sign, Ataxia, Hypertension, Tremor, G... ORPHA:363400
Leukodystrophy, Hypomyelinating, 6
Spasticity, Oculomotor apraxia, Ataxia, Rigidity, Tremor, Choreoathetosis, Dystonia OMIM:612438
Albers-Schönberg Osteopetrosis
Generalized osteosclerosis, Osteoarthritis, Arthritis, Osteomyelitis, Recurrent fractures, Mandib... ORPHA:53
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Cerebral palsy, Dystonia ORPHA:70594
Kufor-Rakeb Syndrome
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... OMIM:606693
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Reduced bone mineral density, Osteoporosis, Limitation of knee mo... OMIM:614856
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Right ventricular failure, Right-to-left shunt, Tricuspid regurgitation, C... ORPHA:439
Dysosteosclerosis
Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mineral density, ... ORPHA:1782
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... ORPHA:85188
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor ORPHA:66633
Autosomal Dominant Cerebellar Ataxia
Progressive cerebellar ataxia, Rigidity, Laryngeal dystonia, Fasciculations, Dystonia, Spasticity... ORPHA:99
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Tetanus
Tachycardia, Spasticity of pharyngeal muscles, Hypertension, Rigidity, Elevated circulating creat... ORPHA:3299
Spinocerebellar Ataxia, Autosomal Recessive 13
Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Dysmetria OMIM:614831
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Elevated circulating creatine kinase concentration OMIM:619790
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Knee osteoarthritis, Stiff knee, Abnormal epiphyseal ossification... ORPHA:93284
Spinocerebellar Ataxia Type 21
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Ga... ORPHA:98773
Complete Atrioventricular Septal Defect
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... ORPHA:1329
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Speech apraxia, Poor fine motor coordination, First degree atrioventricular ... ORPHA:589821
Glutathionuria
Tremor, Action tremor, Dysdiadochokinesis OMIM:231950
Osteopetrosis, Autosomal Recessive 2
Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma... OMIM:259710
Gaucher Disease Type 1
Increased bone mineral density, Pulmonary arterial hypertension, Osteolysis, Pathologic fracture,... ORPHA:77259
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Syncope, Palpitations, Arrhythmia, Abnorm... ORPHA:99104
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Frequent falls, Limb ataxia, Tremor, Gait ataxia OMIM:616719
Tremor, Nystagmus, And Duodenal Ulcer
Tremor, Kinetic tremor OMIM:190310
Spinocerebellar Ataxia 42
Abnormal pyramidal sign, Ataxia, Spastic ataxia, Tremor, Spastic gait, Babinski sign OMIM:616795
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Progressive cerebellar ataxia, Ataxia, Blepharospasm, Dysdiadochokinesis, Gait ataxi... ORPHA:101
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Facial hyperostosis, Coarse metaphyseal trabecularization, Aortic... ORPHA:2780
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Gait ataxia, Poor motor coordination, Dysmetria ORPHA:1170
Myopathy With Extrapyramidal Signs
Frequent falls, Ataxia, Clonus, Clumsiness, Hypervalinemia, Abnormality of extrapyramidal motor f... OMIM:615673
Spinocerebellar Ataxia 8
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Tremor, Incoordination OMIM:608768
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced left ventricular ejection fraction, Elevated circulating creatine kinase co... ORPHA:268
Gaisböck Syndrome
Increased circulating renin level, Hyperuricemia, Elevated diastolic blood pressure, Hyperprotein... ORPHA:90041
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Osteopetrosis OMIM:612840
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Abnormal pyramidal sign, Ataxia, Cerebral hemorrhage, Tremor, Dystonia ORPHA:542310
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Parkinsonism, Ataxia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Abnormality o... ORPHA:352649
Myotonic Dystrophy 2
Palpitations, Elevated circulating creatine kinase concentration, Premature ventricular contracti... OMIM:602668
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Hypohomocysteinemia, Hypocystinemia, Decreased serum creatinine OMIM:617744
Werner Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Hypertension, Congestive heart fai... ORPHA:902
Peroxisome Biogenesis Disorder 5B
Elevated circulating phytanic acid concentration, Oculomotor apraxia, Ataxia, Tremor, Dysmetria OMIM:614867
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, Spastic paraplegia, Res... OMIM:300055
Ebstein Malformation Of The Tricuspid Valve
Right bundle branch block, Arrhythmia, Sudden cardiac death, Congestive heart failure, Cerebral i... ORPHA:1880
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Blepharospasm, Generalized dystonia, Writer's cramp, Tremor, Oromandibular dystonia,... OMIM:128100
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Spontaneous Periodic Hypothermia
Tremor, Arrhythmia, Ataxia ORPHA:29822
Juvenile Dermatomyositis
Vasculitis, Arrhythmia, Cardiomyopathy, Mucosal telangiectasiae, Elevated circulating creatine ki... ORPHA:93672
Adult-Onset Dystonia-Parkinsonism
Spasticity, Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Abnormal... ORPHA:199351
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Pathologic fracture, Osteomyelitis leading to amputation due to slow healing fractures, Osteopeni... OMIM:112250
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Diaphyseal sclerosis, Craniofacial osteosclerosis, Cognitive impairment, Increased skull ossifica... OMIM:618476
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Left bundle branch block, Ventricular bigeminy, Elevated circulating creatine kinase ... OMIM:610131
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Increased susceptibility to fractures, Flexion con... ORPHA:77297
Paget Disease Of Bone 5, Juvenile-Onset
Increased bone mineral density, Osteoporosis, Ankylosis, Osteopenia, Recurrent fractures OMIM:239000
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Spasticity, Mitral regurgitation, Ataxia, Tricuspid regurgitation, Right bundle branch block, Dys... OMIM:619576
Liver Disease, Severe Congenital
Hypoproteinemia, Hyperammonemia, Systolic heart murmur, Elevated circulating alpha-fetoprotein co... OMIM:619991
Behr Syndrome
Frequent falls, Progressive spasticity, Ataxia, Tremor, Babinski sign, Truncal ataxia, Dysmetria OMIM:210000
Gerstmann-Straussler Disease
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... OMIM:137440
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Ataxia, Postural tremor, Tremor, Babinski sign, Dystonia, Dysmetria OMIM:607694
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Parkinsonism, Tremor, Congestive heart failure, Resting tremor, Lower limb spasticity ORPHA:3077
Non-Functioning Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:94080
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Clonus, Elevated circulating... OMIM:619424
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Conjunctival telangiectasia, Elevated c... OMIM:606002
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Spinocerebellar Ataxia Type 27
Limb ataxia, Hand tremor, Tremor, Gait ataxia, Truncal ataxia ORPHA:98764
Pierson Syndrome
Hypoproteinemia, Hypertension, Retinal hemorrhage OMIM:609049
Typhoid
Cardiac arrest, Ataxia, Arrhythmia, Tremor, Gastrointestinal hemorrhage, Epistaxis, Hypertonia ORPHA:99745
Parkinson Disease 8, Autosomal Dominant
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykin... OMIM:607060
Nipah Virus Disease
Tremor, Myoclonus, Hypotension ORPHA:99825
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration, Ataxia ORPHA:158048
Hyperoxaluria, Primary, Type I
Raynaud phenomenon, Increased bone mineral density, Pathologic fracture, Intermittent claudicatio... OMIM:259900
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Pseudohypoparathyroidism Type 1A
Hyperostosis frontalis interna, Increased bone mineral density, Reduced bone mineral density, Ect... ORPHA:79443
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Ectopic ossification, Anxiety, Irritability, Prolonged QT interva... ORPHA:79444
Cerebral Amyloid Angiopathy, Itm2B-Related, 1
Spasticity, Hypertonia, Rigidity, Tremor OMIM:176500
Pycnodysostosis
Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral density, Osteolytic ... ORPHA:763
Neurodegeneration With Brain Iron Accumulation 4
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Generalized dystonia, Abnormality of e... OMIM:614298
Obsolete: Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Arrhythmia, Hypertension, Elevated circulating creatine kinase co... ORPHA:437572
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Ataxia, Tremor, Incoordination OMIM:618060
Gaucher Disease Type 3
Increased bone mineral density, Pulmonary arterial hypertension, Osteolysis, Dementia, Increased ... ORPHA:77261
Dysosteosclerosis
Sclerosis of hand bone, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased susceptib... OMIM:224300
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Irritability, Osteopetrosis, Cranial hyperostosis, Decreased oste... OMIM:259720
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Myoclonus, Ataxia, Blepharospasm OMIM:607876
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Right ventricular failure, Syncope, Palpitation... ORPHA:70591
Pelizaeus-Merzbacher Disease
Abnormal pyramidal sign, Ataxia, Generalized dystonia, Head titubation, Writer's cramp, Tremor, I... OMIM:312080
Classic Progressive Supranuclear Palsy Syndrome
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Axial dystonia, Parkinsonism with favorable... ORPHA:240071
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... ORPHA:137675
Neurodegeneration With Brain Iron Accumulation 5
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis OMIM:300894
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho... ORPHA:289176
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Abnormal pyramidal sign, Ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Intention t... OMIM:614381
Schwartz-Jampel Syndrome
Increased bone mineral density, Pulmonary arterial hypertension, Arthrogryposis multiplex congeni... ORPHA:800
Poems Syndrome
Sclerosis of foot bone, Pulmonary arterial hypertension, Sclerosis of hand bone, Sclerosis of sku... ORPHA:2905
Camurati-Engelmann Disease
Diaphyseal sclerosis, Cortical thickening of long bone diaphyses, Increased bone mineral density,... OMIM:131300
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Thyrotoxic Periodic Paralysis
Palpitations, Transient hypophosphatemia, Impaired myocardial contractility, Second degree atriov... ORPHA:79102
Juvenile Polyposis Syndrome
Hypoproteinemia, Pulmonary arterial hypertension, Hematochezia, Extrahepatic portal hypertension,... ORPHA:2929
Marbach-Rustad Progeroid Syndrome
Pulmonary insufficiency, Intention tremor, Right bundle branch block OMIM:619322
Gaucher Disease
Increased bone mineral density, Pulmonary arterial hypertension, Osteolysis, Joint stiffness, Ost... ORPHA:355
Migraine, Familial Hemiplegic, 2
Hemiparesis, Apraxia, Hemiplegia, Tremor, Gait ataxia, Episodic ataxia, Dysmetria OMIM:602481
Spastic Paraplegia 9B, Autosomal Recessive
Spasticity, Pseudobulbar paralysis, Tremor, Tetraplegia, Spastic paraplegia, Babinski sign OMIM:616586
Parkinson Disease, Late-Onset
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor, Dystonia OMIM:168600
Mercury Poisoning
Hypotension, Hypertension, Hypokalemia, Tremor, Tachycardia, Dystonia ORPHA:330021
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Elevated circulating creatinine concentration ORPHA:29073
Erdheim-Chester Disease
Increased bone mineral density, Osteolysis, Congestive heart failure, Osteomyelitis ORPHA:35687
Leptospirosis
Hypotension, Arrhythmia, Hyperproteinemia, First degree atrioventricular block, Subconjunctival h... ORPHA:509
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mildly elevated creatine kinase, Vocal cord paralysis ORPHA:397744
Fabry Disease
Abnormal circulating lipid concentration, Mitral regurgitation, Telangiectasia of the skin, Arrhy... ORPHA:324
Trichothiodystrophy
Craniosynostosis, Increased bone mineral density, Cardiomyopathy, Osteopenia, Multiple joint cont... ORPHA:33364
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Oculomotor apraxia, Blepharospasm, Spastic dysarthria, Rigidity, Tremor, Bradykinesia ORPHA:240094
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Abnormal pyramidal sign, Spastic gait, Ataxia, Clonus, Upper limb postu... ORPHA:99027
Primary Hyperoxaluria
Raynaud phenomenon, Generalized osteosclerosis, Heart block, Cardiomyopathy, Intermittent claudic... ORPHA:416
Eisenmenger Syndrome
Abnormal B-type natriuretic peptide concentration, Tricuspid regurgitation, Supraventricular arrh... ORPHA:97214
Parkinson Disease 20, Early-Onset
Parkinsonism, Rigidity, Tremor, Bradykinesia, Eyelid apraxia, Involuntary movements, Dystonia OMIM:615530
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Crimean-Congo Hemorrhagic Fever
Myocarditis, Elevated circulating creatine kinase concentration, Bundle branch block, Fasciculati... ORPHA:99827
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Facial hypero... ORPHA:2658
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Synostosis of carpal bones, Carpal synos... ORPHA:90652
X-Linked Hypophosphatemia
Rickets, Generalized osteosclerosis, Reduced bone mineral density, Craniosynostosis, Enthesitis, ... ORPHA:89936
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis OMIM:259730
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Limb hypertonia, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Hypertoni... OMIM:618056
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Hyperbilirubinemia, Ataxia ORPHA:713
12Q14 Microdeletion Syndrome
Osteopoikilosis ORPHA:94063
Neuroleptic Malignant Syndrome
Hyperuricemia, Hypotension, Tachycardia, Arrhythmia, Oculogyric crisis, Hyperphosphatemia, Hypert... ORPHA:94093
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Arthrogryposis multiplex congenita OMIM:259775
Alternating Hemiplegia Of Childhood
Tetraparesis, Abnormal pyramidal sign, Abnormal T-wave, Oculomotor apraxia, Ataxia, Episodic hemi... ORPHA:2131
Noonan Syndrome With Multiple Lentigines
Pulmonic stenosis, Arrhythmia, Bundle branch block, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:500
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Spasticity, Right bundle branch block OMIM:618590
Serotonin Syndrome
Hypotension, Clonus, Tachycardia, Hypertension, Rigidity, Tremor, Myoclonus, Hypertonia ORPHA:43116
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... ORPHA:276621
Aortic Arch Interruption
Right bundle branch block, Systolic heart murmur, Blood pressure substantially higher in arms tha... ORPHA:2299
Atypical Werner Syndrome
Increased bone mineral density, Reduced bone mineral density, Sclerosis of hand bone, Progressive... ORPHA:79474
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Osteopetrosis ORPHA:3240
Cocaine Intoxication
Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypotension, Tachyca... ORPHA:90068
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Patchy osteosclerosis OMIM:241410
Desmosterolosis
Generalized osteosclerosis, Arthrogryposis multiplex congenita, Joint contracture of the hand OMIM:602398
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Tremor, Transient ischemic attack, Myocardial infarction, Elevated... OMIM:274150
Multiple System Atrophy 1, Susceptibility To
Parkinsonism, Ataxia, Rigidity, Tremor, Bradykinesia, Orthostatic hypotension, Babinski sign OMIM:146500
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... ORPHA:216694
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Ataxia-Telangiectasia
Conjunctival telangiectasia, Progressive cerebellar ataxia, Ataxia, Elevated circulating alpha-fe... OMIM:208900
Williams Syndrome
Increased bone mineral density, Mitral regurgitation, Joint stiffness, Pulmonic stenosis, Osteopo... ORPHA:904
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Sinus tachycardia, Hypertension, Right bun... OMIM:614008
Sclerosteosis 1
Cognitive impairment, Facial palsy secondary to cranial hyperostosis, Sclerotic scapulae, Cortica... OMIM:269500
Sanjad-Sakati Syndrome
Patchy osteosclerosis ORPHA:2323
Cleidocranial Dysplasia 1
Increased bone mineral density, Increased susceptibility to fractures, Delayed pubic bone ossific... OMIM:119600
Leopard Syndrome 1
Third degree atrioventricular block, Bundle branch block, Pulmonic stenosis, Hypertrophic cardiom... OMIM:151100
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Reduced bone mineral density, Pulmonary arterial hypertension, Osteopetrosis, R... ORPHA:667
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Mitral regurgitation, Right bundle branch block, Pulmonic stenosis, Tricuspid regurgitation OMIM:617506
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Blepharospasm, Abnormality of extrapyr... OMIM:234200
Osteopetrosis, Autosomal Recessive 7
Osteopetrosis, Abnormal trabecular bone morphology OMIM:612301
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Bundle branch block, Prolonged QT interval ORPHA:373
Osteopetrosis With Renal Tubular Acidosis
Pulmonary arterial hypertension, Osteopetrosis, Recurrent fractures ORPHA:2785
Cutis Laxa, Autosomal Recessive, Type Iid
Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyopathy OMIM:617403
Schinzel-Giedion Midface Retraction Syndrome