Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Syncope |
OMIM:143850 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hypotension |
ORPHA:369873 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Analbuminemia |
|
Hypotension |
OMIM:616000 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
Parkinson Disease 17 |
|
Bradykinesia, Akinesia |
OMIM:614203 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556037 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Unsteady gait, Bradykinesia, Falls, Gait imbalance, Loss of ambulatio... |
ORPHA:240094 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia |
ORPHA:98764 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Hypotension |
ORPHA:70578 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... |
OMIM:212138 |
Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556030 |
Congenital Isolated Acth Deficiency |
|
Hypotension |
ORPHA:199296 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Gait ataxia, Bradykinesia, Shuffling gait, Short stepped shuffling gait |
ORPHA:391411 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension |
OMIM:618182 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension |
ORPHA:99828 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Spinocerebellar Ataxia Type 21 |
|
Progressive cerebellar ataxia, Akinesia, Gait ataxia |
ORPHA:98773 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:188 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Hypotonia, Hypertonia, Dementia, General... |
OMIM:272800 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... |
ORPHA:542323 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Chorea, Hypotonia, Hypertoni... |
OMIM:272750 |
Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Progressive spastic quadriplegia, Cognitive impairment, Dys... |
ORPHA:309246 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Freezing of gait, Bradykinesia, Akinesia |
OMIM:619911 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Right ventricular failure, Palpitations, Facial telangiectasia, Hypotens... |
ORPHA:97287 |
Aa Amyloidosis |
|
Hypotension |
ORPHA:85445 |
Scrub Typhus |
|
Myocarditis, Hypotension |
ORPHA:83317 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Meningococcal Meningitis |
|
Shock, Hypotension |
ORPHA:33475 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension |
ORPHA:159 |
Corticobasal Syndrome |
|
Bradykinesia, Gait disturbance, Akinesia |
ORPHA:454887 |
Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension |
ORPHA:391673 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... |
ORPHA:100075 |
Congenital Myopathy 9A |
|
Akinesia |
OMIM:618822 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Hypotension |
ORPHA:36238 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:43116 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Arrhythmia, Hypotension |
ORPHA:549 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension |
ORPHA:3452 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia |
OMIM:607454 |
Congenital Enterovirus Infection |
|
Myocarditis, Cardiomyopathy, Hypotension |
ORPHA:292 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Akinesia |
OMIM:300894 |
Perry Syndrome |
|
Bradykinesia, Short stepped shuffling gait, Akinesia |
OMIM:168605 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... |
ORPHA:31826 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Hypertonia, Spasticity |
OMIM:616881 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Chorea, Spastic tetraplegia, Hypertonia, Neon... |
OMIM:617864 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension |
OMIM:605543 |
Arthrogryposis Multiplex Congenita 6 |
|
Akinesia |
OMIM:619334 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Hypotension |
ORPHA:428 |
Manganese Poisoning |
|
Bradykinesia, Gait disturbance, Akinesia |
ORPHA:306682 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension |
ORPHA:134 |
Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension |
ORPHA:173 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Kufor-Rakeb Syndrome |
|
Akinesia, Bradykinesia, Ataxia, Gait disturbance |
OMIM:606693 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia |
OMIM:607598 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Bradykinesia, Falls, Gait imbalance, Akinesia |
ORPHA:240071 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Hellp Syndrome |
|
Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension |
ORPHA:93256 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension |
ORPHA:36234 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
Lujo Hemorrhagic Fever |
|
Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension |
ORPHA:319213 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... |
ORPHA:340 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hypotension |
ORPHA:199299 |
Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Cardiac arrest, Hypotension |
ORPHA:20 |
Acute Adrenal Insufficiency |
|
Hypotension, Orthostatic hypotension, Hypovolemia, Myocardial infarction |
ORPHA:95409 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait |
ORPHA:247234 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Syncope |
ORPHA:441 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension |
ORPHA:90791 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Choreoathetosis, Akinesia, Truncal ataxia |
OMIM:618249 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Progressive spasti... |
ORPHA:320406 |
Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, ... |
ORPHA:438216 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Progressive psychomotor det... |
OMIM:268800 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... |
ORPHA:466650 |
Postencephalitic Parkinsonism |
|
Bradykinesia, Akinesia |
ORPHA:97349 |
Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Exaggerated startle response |
OMIM:618201 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Akinesia |
OMIM:616840 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Congenital Myopathy 12 |
|
Akinesia |
OMIM:612540 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia |
OMIM:614619 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... |
ORPHA:91347 |
Fetal Akinesia Deformation Sequence |
|
Akinesia |
ORPHA:994 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension |
ORPHA:293978 |
Multiple Pterygium Syndrome, Lethal Type |
|
Akinesia |
OMIM:253290 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia |
OMIM:225790 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia |
OMIM:614618 |
Stiff Person Spectrum Disorder |
|
Rigidity, Exaggerated startle response |
ORPHA:3198 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... |
ORPHA:509 |
Lysosomal Acid Lipase Deficiency |
|
Pulmonary arterial hypertension, Hypovolemia, Hypotension |
ORPHA:275761 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:168558 |
Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:289548 |
Hereditary Late-Onset Parkinson Disease |
|
Bradykinesia, Shuffling gait, Akinesia |
ORPHA:411602 |
Aceruloplasminemia |
|
Akinesia, Ataxia, Limb ataxia, Gait ataxia |
ORPHA:48818 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Tremor, Dysmetria, Decerebrate rigidity, Gene... |
ORPHA:845 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hypotonia |
OMIM:620114 |
Addison Disease |
|
Orthostatic hypotension, Hypotension |
ORPHA:85138 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Akinesia |
OMIM:619147 |
Gitelman Syndrome |
|
Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr... |
ORPHA:358 |
Sandhoff Disease, Infantile Form |
|
Infantile axial hypotonia, Spasticity, Exaggerated startle response |
ORPHA:309155 |
Supranuclear Palsy, Progressive, 2 |
|
Bradykinesia, Falls, Gait imbalance, Akinesia |
OMIM:609454 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Axial hypotonia, Limb hypertonia |
OMIM:620327 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia |
OMIM:149400 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Spastic paraplegia |
OMIM:609541 |
Stiff-Person Syndrome |
|
Rigidity, Exaggerated startle response, Opisthotonus |
OMIM:184850 |
Acute Liver Failure |
|
Intracranial hemorrhage, Shock, Gastrointestinal hemorrhage, Hypotension |
ORPHA:90062 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Gaucher Disease, Perinatal Lethal |
|
Akinesia |
OMIM:608013 |
Supranuclear Palsy, Progressive, 1 |
|
Bradykinesia, Falls, Gait imbalance, Akinesia |
OMIM:601104 |
Plague |
|
Hematemesis, Tachycardia, Arrhythmia, Hypotension |
ORPHA:707 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypovolemia, Hypotension |
ORPHA:90794 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Hypotonia, Hypertonia, Cognitive impairment |
OMIM:617527 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Choreoathetosis, Bradykinesia, Gait disturbance |
OMIM:234200 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Axial hypotonia, Tremor, Hypotonia, Spastic tetraplegia, Hypertonia... |
OMIM:615574 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Hypertonia, Axial hypotonia |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 49 |
|
Spasticity, Axial hypotonia, Spastic tetraplegia, Exaggerated startle response |
OMIM:617281 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Hypotonia, Progressive spastic quadriplegia, Dystonia, Li... |
ORPHA:521426 |
Arthrogryposis Multiplex Congenita 5 |
|
Akinesia |
OMIM:618947 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Decerebrate rigidity, Dystonia, Spasticity, Infantile muscular hypo... |
ORPHA:79255 |
Bartter Syndrome, Type 1, Antenatal |
|
Low-to-normal blood pressure |
OMIM:601678 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Hypotonia, Generalized hypotonia |
OMIM:253800 |
Bartter Syndrome, Type 2, Antenatal |
|
Low-to-normal blood pressure |
OMIM:241200 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Dpagt1-Cdg |
|
Inability to walk, Ataxia, Akinesia |
ORPHA:86309 |
African Trypanosomiasis |
|
Choreoathetosis, Difficulty walking, Gait disturbance, Akinesia |
ORPHA:3385 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Hypertonia, Exaggerated startle response |
OMIM:618367 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Hypotonia, Attention deficit hyperactivity disorder |
OMIM:619522 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia, Infantile muscular hypotonia |
ORPHA:438213 |