Cardiomyopathy, Dilated, 1Ff |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi... |
OMIM:619389 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Cardiomyopathy, Dilated, 2C |
|
Death in infancy, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Death in ch... |
OMIM:618189 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... |
OMIM:610951 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Pigmentary retinopathy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Rod-cone ... |
ORPHA:1178 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Hypertriglyceridemia, Short st... |
OMIM:610717 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Axial hypotonia, Increased urine succinat... |
OMIM:619048 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Sideroblastic anemia, Increase... |
OMIM:613561 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Hypotonia, Hyper... |
OMIM:251110 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Abnormal retinal morphology, Gait ataxia, Cerebellar hypoplasia, Nonprogressive... |
ORPHA:94122 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Chorea, Low plasma citrulline, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Hyperven... |
ORPHA:255210 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Short stature, Ataxia, Dilated cardiomyopathy, Optic atrophy, Babinski sign, Spasticity... |
OMIM:252011 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... |
OMIM:619477 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Cerebellar hypoplasia, Ataxia |
ORPHA:2246 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Increased serum lactate, Microvesi... |
OMIM:615395 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai... |
OMIM:614322 |
Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:302045 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Increased serum lactate, Elevated circulating crea... |
OMIM:617872 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Waddling gait, Peripheral axonal neuropathy, Short stature, Babinski sign, Ce... |
OMIM:619090 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Lower limb spasticity, Peripheral axonal neuropathy, Supraventricular arrhythmia, Abnormal cerebe... |
ORPHA:320360 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Hand muscle weakness, Tremor, Axonal degeneration, Dysmetria, Han... |
OMIM:302800 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Spastic Paraplegia 88, Autosomal Dominant |
|
Lower limb spasticity, Agenesis of cerebellar vermis, Babinski sign, Unsteady gait, Distal sensor... |
OMIM:620106 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... |
ORPHA:422 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Elevated circulating creati... |
OMIM:208920 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Hand... |
OMIM:604484 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Megaloblastic ... |
OMIM:277410 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,... |
ORPHA:33445 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Macular degeneration, Pigmentary retinop... |
OMIM:164500 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Lactic acidosis, Choreoathetosis, C... |
ORPHA:506 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased level of methylsuccinic acid in urine, Elevated circulating acylcarnitine concentration... |
ORPHA:26792 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated lactate:pyruvate ratio, Skeletal muscle atrophy, Axial hypotonia, Elevated circulating a... |
OMIM:245400 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Bilateral tonic-clonic seizure with focal onset, Increased serum lactate, ... |
ORPHA:254881 |
Fumarase Deficiency |
|
Bilateral fetal pyelectasis, Decreased fumarate hydratase activity, Increased urine succinate lev... |
OMIM:606812 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Peroneal muscle atrophy, Hand muscle weakness, Axonal degeneration, Axonal l... |
ORPHA:98856 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Macrophagic Myofasciitis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:592 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Respirator... |
OMIM:618276 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Episodic tach... |
OMIM:615160 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Diffuse cerebral atrophy, Clonus, Decreased thalamic volume, Seizure, Hypoplasia of the brainstem... |
OMIM:613668 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia, Increased serum lactate, Hypotonia, Lactic acidosis, Hypertonia, Bradycardia, Genera... |
OMIM:614654 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Hereditary Myopathy With Early Respiratory Failure |
|
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... |
ORPHA:178464 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Short statur... |
ORPHA:369 |
Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611615 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Reduced forced vital capacity, Axonal degeneration, Lacticaciduria, ... |
OMIM:618811 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Renal insuffic... |
OMIM:277400 |
Hsd10 Disease, Neonatal Type |
|
Abnormal circulating enzyme concentration or activity, Metabolic acidosis, Lactic acidosis, Abnor... |
ORPHA:391457 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Increased serum lact... |
OMIM:615158 |
Sandhoff Disease, Adult Form |
|
Reduced beta-hexosaminidase activity, Elevated circulating creatine kinase concentration, Tremor,... |
ORPHA:309169 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Chest pain, Muscu... |
ORPHA:263494 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, First degree atrioventricular block, Peroneal... |
OMIM:181350 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated lactate:pyruvate ratio, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:614582 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Cerebellar calcifications, Parkinsonism, Rigidity, Babinski sign, Limb atax... |
OMIM:618824 |
Acute Peripheral Arterial Occlusion |
|
Gangrene, Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse,... |
ORPHA:90064 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypotonia, Hy... |
OMIM:239200 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Lactic acidosis, Generalized hypotonia, Elevated creatine kinase after exe... |
ORPHA:99901 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ... |
ORPHA:90103 |
Pontiac Fever |
|
Fatigue, Myalgia |
ORPHA:99748 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Ragged-red muscle fiber... |
OMIM:500002 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Ataxia |
ORPHA:2579 |
Juvenile Dermatomyositis |
|
Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:93672 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Ketoacidosis, Hypotonia, L... |
OMIM:246900 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... |
OMIM:616198 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Foot dorsiflexor weakness, Axonal degeneration, Impaired distal v... |
OMIM:614436 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
Cardiomyopathy, Dilated, 2E |
|
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... |
OMIM:619492 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Elevated circulating creatine kinase concentration, Clonus, Hypoplasia of the pons, Abnormal pyra... |
ORPHA:370959 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Dilated cardiomyop... |
ORPHA:2515 |
Cach Syndrome |
|
Cerebellar atrophy, Seizure, T2 hypointense thalamus, Flexion contracture, Optic atrophy, Nonketo... |
ORPHA:135 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... |
OMIM:160500 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Dilated cardio... |
OMIM:612937 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Increased serum lactate, Congestive heart failure, ... |
OMIM:618234 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Respi... |
OMIM:500009 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... |
OMIM:620011 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Ataxia, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, Ret... |
OMIM:551500 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Retinal pigment epithelial mottling, Moderately short stature, Central ... |
ORPHA:506353 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Growth delay, Fatigue, Short stature |
OMIM:618573 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hypercapnia, Myoglobinuria, Tachypnea, Hyperkalemia, Cardiomyocyte mitocho... |
ORPHA:423 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Reduced forced vital ca... |
OMIM:164310 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Short stature, Abnormality of Krebs cycle metabolism, Hypertonia, Abnorm... |
ORPHA:31 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Elevated circu... |
OMIM:616199 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure, Death in infancy |
OMIM:212080 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Exercise intolerance, Dicarboxylic aciduria, Microvesicular hepati... |
OMIM:611126 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Malignant hyperthermia, Hepatic... |
OMIM:614921 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated lactate:pyruvate ratio, Elevated urinary 4-hydroxybutyric acid, Redundant neck skin, Lac... |
OMIM:619003 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Retinal atrophy, Retinal dystrophy, Ataxia, Elong... |
ORPHA:370022 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Hyperreflexia |
|
Ankle clonus, Abnormality of retinal pigmentation |
OMIM:145290 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Autophagic vacuoles, Elevated circulating creatine kinase concentration, ... |
ORPHA:266 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Babinski si... |
OMIM:264470 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Increased serum lacta... |
OMIM:613845 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Ataxia, Increased serum lactate, Splenomegaly, Hyperprolinemia, Lactic ... |
OMIM:619046 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Decreased fumarate hydratase activity |
OMIM:150800 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Increased serum lactate, Slurred speech, Cerebral atrophy, Seizure, Hypertrophic cardiomyopathy |
OMIM:618855 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra... |
OMIM:618805 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Lactic... |
ORPHA:444013 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Increased serum lactate, Flexion contracture, Spastic tetraplegia, Metabolic acidosis, Myopathy, ... |
OMIM:618237 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Fatigue, Sudden cardiac dea... |
ORPHA:156 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Hypertriglyceridemia, Splenomegaly, Hypoton... |
OMIM:306000 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Apnea, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulati... |
OMIM:261680 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... |
OMIM:618097 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Exercise intolerance, Eleva... |
ORPHA:228305 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Lower limb spasticity, Dystonia, Ataxia, Incre... |
OMIM:614458 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, 3-Methylglutaric aciduria, Pallor, Fatigue, Hepatomegaly, Ketonuria, Spastic hemipare... |
ORPHA:20 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hypotoni... |
OMIM:231530 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated urinary 3-hydroxyb... |
ORPHA:42 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... |
OMIM:204200 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Ataxia, Dilated cardiomyopathy, Optic atrophy, S... |
ORPHA:254913 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase c... |
OMIM:212140 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Hypoglycemia, Cardiomegaly, Pericardial effusion, Increased serum lact... |
OMIM:614702 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic sei... |
ORPHA:330050 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Elevated circulating creatine kinase concentration, Reduced muscle fiber alpha dystroglycan, Dila... |
ORPHA:34515 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Elevated circulating creatine k... |
OMIM:618655 |
Neuroferritinopathy |
|
Caudate atrophy, Writer's cramp, Chorea, Focal dystonia, Parkinsonism, Arm dystonia, Abnormal den... |
ORPHA:157846 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Fever, Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hypotonia, Hyp... |
OMIM:246450 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Narp Syndrome |
|
Optic disc pallor, Short stature, Ataxia, Retinal arteriolar tortuosity, Retinal pigment epitheli... |
ORPHA:644 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Ataxia, Startle-induced seizure, Infantile spasms, Hypoplasia of th... |
ORPHA:467166 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Hypotonia, Lactic acidosis, Metabolic... |
OMIM:616501 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased serum pyruvate, Respiratory distress, Skeletal muscle atrophy, Involuntary movements, I... |
ORPHA:238329 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Peroxisome Biogenesis Disorder 8B |
|
Very long chain fatty acid accumulation, Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambu... |
OMIM:614877 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum lactate, Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic d... |
ORPHA:255182 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Lactic acidosis, Hypoalbuminemia, Hepatic steatosis, Hepatomegaly, Porta... |
OMIM:251880 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Acidosis, Jaundice, Abnormal respiratory system phys... |
ORPHA:90062 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Exercise intolerance, Short stature, Elevated circulating creatine kinase concentration, Ankle fl... |
OMIM:618120 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Difficulty w... |
ORPHA:324588 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated lactate:pyruvate ratio, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:616974 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Exercise intolerance, Elevated circulating aspartate aminotransferase concentration, Aciduria, In... |
OMIM:617950 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent l... |
OMIM:204500 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Pigmentary retinopathy, Hepatomegaly |
OMIM:609016 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Broad-based gait, Ataxia, Elevated circulating creat... |
OMIM:616479 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Short stature, Chorio... |
OMIM:251270 |
Sengers Syndrome |
|
Fatigue, Exercise intolerance, Cardiac arrest, Sudden cardiac death, Increased serum lactate, Hyp... |
OMIM:212350 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia... |
OMIM:620085 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... |
OMIM:618889 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acido... |
OMIM:614096 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Foot dorsiflexor weakness,... |
OMIM:620068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia, Cerebellar dysplasia |
OMIM:615041 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Increased sarcoplasm... |
ORPHA:264580 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis, Increased serum lactate, Metabolic acidosis, Lactic acidosis, Hyp... |
ORPHA:91130 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Sple... |
ORPHA:848 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Abnormal thalamic MRI signal inten... |
ORPHA:363717 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Dilated cardiomyopa... |
OMIM:248360 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Clumsiness, Focal... |
ORPHA:216873 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame... |
OMIM:253601 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Left atrial enlargement, Left ventricular noncompaction cardiomyo... |
OMIM:619424 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Fatigue, Splenomegaly, Pallor, Abnormality of iron homeostasis, An... |
ORPHA:75563 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:616291 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Opto-chiasmatic atrophy, Impaired proprioception, Dysmetria, Loss of ambulation, I... |
OMIM:615491 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Elevated circulating creatine kinase concentration, Trem... |
ORPHA:276435 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Axial hypotonia, Spastic tetraparesis, Increased serum lactate, Hy... |
OMIM:616299 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Decreased distal sensory nerve actio... |
OMIM:618400 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Elevated circulating aspa... |
OMIM:620300 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
Polymyositis |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Arthralgia, Fatigue, H... |
ORPHA:732 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Foot dorsiflexor weakness, Small for gestational age, Elev... |
OMIM:619054 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, T2 hypointense thalamus, Inability to walk, Unstea... |
ORPHA:1947 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Elevated circulati... |
OMIM:604286 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Congestive heart failure, Chorea, Dilated cardiomyopathy, ... |
OMIM:606703 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Short stature, Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller t... |
OMIM:300580 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Elevated circulating glutaric acid concentr... |
ORPHA:66634 |
Combined Oxidative Phosphorylation Deficiency 1 |
|
Fulminant hepatic failure, Elevated lactate:pyruvate ratio, Hepatomegaly, Axial hypotonia, Increa... |
OMIM:609060 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Increased serum lactate, Dilated ca... |
ORPHA:70595 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hyperalaninemia, Axial hypotonia, Hypothermia, Increased serum lac... |
OMIM:618329 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Focal-onset seizure, Decreased thalamic volume, Myoclonic seizure, Hypoplasia of the brainstem, C... |
OMIM:619072 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Premature graying of hair, Dysdiadochokinesis, Dilated cardiomyopathy, Dysmetria |
OMIM:619903 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Pancytopenia, Abnormal macrophage morpholog... |
ORPHA:507 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Respiratory distress, Hypoglycemia, Increased serum lacta... |
OMIM:614741 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Short stature, Ataxia, Congenital hepatic... |
ORPHA:3156 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Increased serum beta-hexosaminidase, Tremor, Dysmetria, Decerebrate rigi... |
ORPHA:845 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro... |
OMIM:613404 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Oliguria, ... |
ORPHA:466650 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Metabolic acidosis, Respiratory failure, Abnormal blood gas level,... |
ORPHA:70578 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Urinary incontinence, Spinal muscular ... |
OMIM:604320 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Intention tremor, ... |
ORPHA:98 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Congestive heart ... |
ORPHA:206546 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Apnea, Hypercapnia, Increased serum lactate, Respiratory insufficiency,... |
OMIM:618222 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple... |
OMIM:615631 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 18 |
|
Increased serum pyruvate, Neonatal respiratory distress, Increased serum lactate, Increased intra... |
OMIM:619062 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Flank pain, Low-grade fever, Pallor, Ecchymosis, Fatigue, Hepatomeg... |
ORPHA:824 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Hypoplastic opti... |
OMIM:210000 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... |
OMIM:619705 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic dipl... |
OMIM:619065 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Generalized-onset seizure, Involuntary movemen... |
OMIM:300816 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Cyanosis, Cardiomegaly, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiecta... |
ORPHA:980 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramid... |
ORPHA:79279 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Dystonia, Ataxia, Inability to walk, Optic atrophy, Dysmetria, Atrophy/Degene... |
OMIM:617954 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Fatty replacement of sk... |
OMIM:255100 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Cardiomyopat... |
ORPHA:603 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Fatigue, Abdominal pain, Increased serum lactate, Congestive heart fail... |
OMIM:616794 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Elevated circulating C-reactive protein concentration, Pulmonary embolism... |
ORPHA:70591 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Elevated circulating creatine kinase concentration, Respiratory insufficiency, Abn... |
OMIM:609524 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Partial agenesis of the corpus ca... |
OMIM:615771 |
Nonaka Myopathy |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Gait disturbance, EMG: myo... |
OMIM:605820 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Truncal ataxia, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Fa... |
OMIM:616230 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre... |
ORPHA:284332 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Severe muscular hypotonia, ... |
ORPHA:367 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Lower limb spasticity, Cardiomyopathy, Hypertrophic cardiomyopathy, Retinopathy |
OMIM:615119 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Generalized dystonia, Increased serum lact... |
ORPHA:70472 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ... |
OMIM:619167 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... |
ORPHA:401768 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phe... |
OMIM:613471 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Fatigue, Increased circulating ferritin concentration, Elevated tr... |
OMIM:604250 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... |
ORPHA:171442 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Rigidity, Optic atrophy, Cerebral atrop... |
OMIM:619057 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:615486 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Optic disc pallor, Apn... |
ORPHA:79264 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Increased serum pyruvate, Ataxia, Increased serum lactate, Ragged-red muscle fibers, Myopathy, Se... |
OMIM:545000 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas... |
OMIM:201475 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
Tibial Muscular Dystrophy |
|
Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ... |
ORPHA:609 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short stature, Ataxia, Trem... |
OMIM:610185 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Abnormal cereb... |
ORPHA:100996 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Cardiomegaly, Lactic acidosis, Choreoathetosis, Loss of ambulation, Sei... |
ORPHA:391428 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
ORPHA:154 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue, Failure to thrive, Pallor, Anorexia |
ORPHA:79283 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Very long chain fatty acid accumulation, Retinal dystrophy, Ataxia, Tremor, U... |
OMIM:614867 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment, Distal amyotrophy, Mildly elevated creatine kinase, Fiber type... |
OMIM:614369 |
Hemochromatosis, Type 4 |
|
Fatigue, Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturat... |
OMIM:606069 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypothermia, Elevated circulating acylcarnitine concentration, Hypotonia, ... |
OMIM:615026 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Elevated circulating C-reactive protein c... |
ORPHA:1302 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Diabetes mellitus, Ataxia, Babinski sign, Optic atrophy, Decreased ... |
OMIM:229300 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Pigmentary retinopathy, Abnormality of the liver, Spasticity, Rod-co... |
OMIM:614307 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Elevated lactate:pyruvate ratio, Epilepsia partialis continua, Ataxia, Increa... |
OMIM:612016 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d... |
OMIM:616155 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Facial palsy, Elevated circulating creatine kinase concentration, Increased serum lactate, Ragged... |
OMIM:616209 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Japanese Encephalitis |
|
Respiratory distress, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoathetosis, Hypertonia,... |
ORPHA:79139 |
Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... |
ORPHA:2088 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Elevated cir... |
OMIM:255160 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Caudate atrophy, T2 hypointense thalamus, Babinski sign, Seizure, Gait disturbance, Myoclonus, Ap... |
OMIM:618193 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Ataxia, Dilated cardiomyopathy, Spas... |
OMIM:619688 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Impaired distal prop... |
OMIM:258450 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glutaric aciduria, L... |
ORPHA:26791 |
Hereditary Spherocytosis |
|
Fever, Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises,... |
ORPHA:822 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, A... |
ORPHA:2394 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Low plasma citrulline, Tachypnea, Lactic acidosis, Elevated urine acetoace... |
OMIM:615751 |
Tremor, Hereditary Essential, 2 |
|
Fatigue |
OMIM:602134 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Axial hypotonia, Increased level of hippuric acid in urine, Short sta... |
OMIM:606054 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Fatigue, Exercise intolerance, Increased serum lactate, Congestive hear... |
ORPHA:1349 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Lo... |
ORPHA:90794 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Macrocytic anemia, Hypotonia,... |
OMIM:615438 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Tremor, Flexion contracture, Lower limb muscle weakness, Recurrent aspiration pneumonia, Abnormal... |
ORPHA:2590 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Axial hypotonia, Increased serum lactate, Hypotonia, Lactic acidosis, Me... |
OMIM:618228 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Elevated circulating aspartate aminotransferas... |
OMIM:271245 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Impaired distal proprioception, Tremor, Flexion contracture, Impaired vibration sensation in the ... |
ORPHA:137898 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Apnea, Fatty replacement of skeletal muscle, Flexion contracture, Congen... |
OMIM:256030 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy, Optic atrophy, Gait disturbance, Retinal dysplasia, Intrauterine growth r... |
ORPHA:272 |
Joubert Syndrome 28 |
|
Optic disc pallor, Ataxia, Pigmentary retinopathy, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:617121 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Highly elevated creatine kinase, Calf muscle hypertrophy, P... |
OMIM:618848 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Atrophy/Degenerati... |
OMIM:617862 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... |
OMIM:615490 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Limb-girdle muscle w... |
ORPHA:79240 |
Mantle Cell Lymphoma |
|
Fatigue, Splenomegaly, Anorexia, Weight loss |
ORPHA:52416 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypotonia, Lactic acidosis, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function... |
ORPHA:67048 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Telangiectasia of the skin, Reti... |
ORPHA:438134 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP respon... |
ORPHA:94090 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy, D-2-hydroxyglutaric aciduria, Hypotonia, D-2-hydroxyglutaric acidemia |
OMIM:613657 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Tachycardia, Proteinuria, Metabolic ketoaci... |
ORPHA:263455 |
Spastic Paraplegia 2, X-Linked |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Abnormal cerebellum morp... |
OMIM:312920 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Spastic paraplegia |
OMIM:236130 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:605259 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Cholangiocarcinoma |
|
Fatigue, Fever, Abdominal pain, Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Ataxia, Infantile spasms, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Respirato... |
ORPHA:263410 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... |
OMIM:224050 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Flexion contracture, Dilated cardiomyopathy, Micropenis, Lactic acidosis, Bradycardi... |
OMIM:618815 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Facial palsy, Camptodac... |
OMIM:614399 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Cerebellar hypoplasia, Limb dystonia, Intrauterine growth retardation, Hypertroph... |
OMIM:620270 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Abnormal retinal morphology, Facial palsy, Optic atrophy, Cerebral at... |
ORPHA:254886 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Ataxia, Spastic tetraparesis, Intention tremor |
OMIM:266130 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... |
ORPHA:206559 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Elevated circulating creatine kinase concentration, R... |
OMIM:609560 |
Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Mildly ele... |
ORPHA:171439 |
Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability, Abnormal abdomen morphology... |
OMIM:181750 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Unsteady gait, Midline brainstem cleft, Hemiparesis, Seizure, Fusion of t... |
OMIM:617542 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Metabolic acid... |
OMIM:611590 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Severe muscular hypotonia, Increased serum lactate, Renal hypo... |
OMIM:614922 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Impaired vibratory sensation, Somatic sensory dysfunction, Elevated circulating cr... |
OMIM:616924 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp... |
OMIM:301045 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Right ventricular hypertrophy |
OMIM:253700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated circulating creati... |
OMIM:615895 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga... |
OMIM:208085 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Rigidity, Abnormal brainstem morphology, Spastic tetrapl... |
ORPHA:88619 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Cyanosis, Apnea, Ureteral stenosis, Dextrocardia, Secundum atrial ... |
ORPHA:2257 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Cerebellar calcifications, Parkinsonism, Chorea, Hand tremor, Athetosis, Thalami... |
OMIM:615483 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased serum lactate, Splen... |
OMIM:613027 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Arthralgia, Hepatic fibrosis, Pallor, Hypoplasia of t... |
ORPHA:231226 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... |
ORPHA:399058 |
Babesiosis |
|
Fatigue, Hepatomegaly, Renal insufficiency, Fever, Hemolytic anemia, Myocardial infarction, Splen... |
ORPHA:108 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Hypertonia, Aplasia/Hypoplasia... |
ORPHA:1466 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Rigidity, Dilated cardiomyopathy, Limb muscle weakness, Hypertonia, Type 1 muscle f... |
OMIM:161800 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, ... |
ORPHA:363400 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Welander Distal Myopathy |
|
Distal amyotrophy, Steppage gait, Mildly elevated creatine kinase, Rimmed vacuoles |
OMIM:604454 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Loss of ambulation, S... |
OMIM:167320 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Sideroblastic anemia, Scapular winging, Pappenheimer bodies, Microcytic ane... |
OMIM:600462 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Short stature, Ataxia, Tremor, Unsteady gait, Dysmetria... |
OMIM:213200 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Fever, Hepatomegaly, Generalized dystonia, Cardiac arrest, Metabolic acidosis, Hypertrophic cardi... |
OMIM:618235 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia, Metabolic acidosis, Increased level of L-pyroglutamic acid in urine, Glyoxalase... |
OMIM:231900 |
Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... |
ORPHA:599373 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Increased urinary glycerol, In... |
ORPHA:348 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Arthralgia, Hepatic fibrosis, Pallor, Hepatomegaly, Hypoplasia of t... |
ORPHA:231214 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hyponatremia, Splenomegaly, Hypotonia, Renal hypoplasia, Nephrocalcinosis, Growth del... |
OMIM:617913 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Neoplasm |
OMIM:310465 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormal heart morphology, Clumsiness, Abnormality of ex... |
ORPHA:79262 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Elev... |
OMIM:212138 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Dilated cardiomyopathy, ... |
OMIM:300718 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concentrati... |
OMIM:617389 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Increased serum lactate, Tremor, Cerebral at... |
OMIM:312170 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Coasy Protein-Associated Neurodegeneration |
|
Peripheral axonal neuropathy, Parkinsonism, Difficulty walking, Spastic paraparesis, Oromandibula... |
ORPHA:397725 |
Tuberculosis |
|
Fatigue |
ORPHA:3389 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor... |
ORPHA:860 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Exercise intolerance, Elevated circulating ... |
OMIM:617713 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Elevate... |
ORPHA:90060 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Abnormal muscle fibe... |
ORPHA:611 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Elevated circulating creatine kinase concentration, Increased serum lactate, Ragged-red m... |
OMIM:618416 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Increased... |
ORPHA:254864 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Short stature, Ataxia, Impaired pain sensation, Abnormal cerebellum... |
ORPHA:1532 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Elevated circulating creatine kinase concentrat... |
OMIM:615048 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Axial hypotonia, Redundant neck skin, Increased serum lactate, Hypotonia, Spastic tetraplegia, Hy... |
OMIM:611719 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Third degree atrioventricular block, Hemiplegia/hemi... |
ORPHA:480 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Fatigue, Increased circulating ferritin concentration, Reticulocyt... |
ORPHA:300298 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Impaired pain sensation, Tremor, Hepatic bridging fibrosis, Splenomegaly, Limb atax... |
OMIM:616719 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... |
ORPHA:98759 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:300717 |
Hsd10 Disease |
|
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral at... |
ORPHA:391417 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Clonus, Choreoathetosis, Reduced liver 2,4-dienoyl-CoA reductase activity, Decreased plasma free ... |
OMIM:616034 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Increased serum lactate, Hyperamm... |
OMIM:619051 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Severe musc... |
ORPHA:91131 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Ataxia, Acute rhabdomyolysis, Chorea, Axonal degeneration, Babins... |
OMIM:604168 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Increased serum lactate, Chorea, Ragged-red musc... |
OMIM:500003 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Fatigue, Short stature, Anisocytosis, Abnormal erythrocyte morphol... |
ORPHA:98870 |
Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, M... |
OMIM:619178 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, N... |
OMIM:615889 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased serum lactate, Ragged-red muscle fibers, Restr... |
ORPHA:457050 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Increased circulating ferritin concen... |
ORPHA:79230 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exercise intolerance, Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased serum lactate, Hypo... |
OMIM:220110 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Somatic sensory dysfunction, Optic atrophy, Gait ataxia, Hepatosplenomegal... |
ORPHA:466794 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata... |
OMIM:616204 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypothermia, Elevated circula... |
ORPHA:159 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Pigmentary retinopathy, Spasticity |
OMIM:617613 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Torticollis, Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Inability to w... |
ORPHA:300570 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebellar atrophy, Epilepsia partialis continua, Spastic tetraparesis, Chorea, Low plasma citrul... |
OMIM:618567 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Skeletal muscle atrophy, Reduced systolic function, Increased connective tissue, Dilated cardiomy... |
OMIM:616827 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Failure to thrive, Elevated hepatic transaminase, ... |
ORPHA:289504 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Fatigue, Gangrene, Hypertensive crisis, Abnormal heart valve mor... |
ORPHA:3287 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Arthralgia, Chills, Fatigue, N... |
ORPHA:91547 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Short stature, Babinski sign, Ab... |
ORPHA:363429 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Bilateral tonic-clonic seizure, Increased serum lactate, Unsteady gai... |
OMIM:301020 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Elevate... |
OMIM:254110 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ... |
ORPHA:98855 |
Barth Syndrome |
|
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... |
OMIM:302060 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Lactic acidosis, Organic aciduria, Generalized hypotonia, Neonatal death, Hypertrophic cardiomyop... |
OMIM:617184 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology, Growth delay, Hypertonia, Spasticity |
ORPHA:411493 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hepatomegaly, Hemol... |
OMIM:619487 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... |
ORPHA:59135 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis,... |
OMIM:615924 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement |
OMIM:611556 |
Pontocerebellar Hypoplasia, Type 6 |
|
Cerebellar atrophy, Appendicular spasticity, Lower limb spasticity, Cerebellar vermis hypoplasia,... |
OMIM:611523 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Elevated circulating creatine kinase co... |
OMIM:618387 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Axial hypotonia, Increased serum lactate, Hyperprolinemia, Neonatal death, Hyperalaninemia, Hepat... |
OMIM:615918 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Short stature, Ataxia, Tremor, Inability to walk, A... |
OMIM:614831 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Aceruloplasminemia |
|
Tremor, Chorea, Gait ataxia, Macular degeneration, Hepatic fibrosis, Elevated hepatic iron concen... |
ORPHA:48818 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration,... |
ORPHA:52430 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
Ravine Syndrome |
|
Apnea, Ataxia, Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology, Decre... |
ORPHA:99852 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Ataxia, Dilated cardiomyopathy, Optic atrophy, Spasticity, Abnormality of extrapyra... |
OMIM:614299 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... |
OMIM:617225 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hemolytic anemia, Aplastic an... |
ORPHA:398124 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia, Increased serum lactate, Unsteady gait, Metabolic acidosis, Seizure, Hypertonia, My... |
OMIM:610090 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Waddling gait, Elevated circulating creatine kinase concentration, Centrall... |
ORPHA:86812 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Cerebellar atrophy, Hypoglycemia, Increased serum lactate, Inability to walk, Optic atrophy, Hype... |
OMIM:614739 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79303 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Opti... |
OMIM:607694 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Unsteady gait, O... |
OMIM:619259 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased ... |
ORPHA:98853 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Focal T2 hyperintense thalamic lesion, Elevated circul... |
OMIM:613724 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Lactic acidosis, Hyperton... |
ORPHA:17 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy |
OMIM:300983 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... |
ORPHA:94093 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
OMIM:619733 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Exercise intolerance, Decreased muscle mass, Hypertriglyceridemia,... |
OMIM:619013 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita, Temperature instability, Bradycardia |
OMIM:208155 |
Adult Krabbe Disease |
|
Urinary incontinence, Hoffmann sign, Upper limb muscle weakness, Lower limb muscle weakness, Abno... |
ORPHA:206448 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Elevated circulating creat... |
OMIM:601954 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Elevated circula... |
ORPHA:90117 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Apnea, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3... |
OMIM:210200 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elevated circulating creatine kinase concentration, Elbow contracture, Ankle con... |
OMIM:620386 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebellar gliosis, Partial agenesis of the corpus callosum, Flexion contracture, Lactic acidosis... |
ORPHA:79243 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... |
OMIM:615157 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... |
OMIM:615424 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Chronic lact... |
OMIM:603358 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Short stature, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dyst... |
OMIM:612438 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... |
OMIM:607459 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Spastic tetraparesis, Skeletal muscle steatosis, La... |
ORPHA:436271 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased serum lactate, Increased variability in muscle fiber diameter, Lactic acidosis, Seizure... |
OMIM:617228 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Severe short-limb dwarfism, Hepatic steatosis |
ORPHA:436182 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Redundant skin, Congestive heart failure, Metabolic acidosis, Neonatal death, Intrauterine growth... |
OMIM:301021 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Peripheral axonal neuropathy, Ataxia, Increased serum lactate, Abnormal pyramidal sign, Dystonia |
OMIM:619196 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Elevated circulating creatine k... |
OMIM:619566 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... |
OMIM:302500 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Spastic tetraplegia, Inability to walk, Decreased thalamic volume, Dystonia |
OMIM:618646 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Decreased beta-galactosidase activity, Aminoacid... |
OMIM:230350 |
Cholestasis-Lymphedema Syndrome |
|
Fatigue, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Splenome... |
ORPHA:1414 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy... |
OMIM:608709 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Growth delay, Pigmentary retinopathy, Ataxia, Retinal degeneration |
ORPHA:3363 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Axial hypotonia, Increased serum lactate, Lacticaciduria, Hyperprolinemia, Lactic acidosis, Neona... |
ORPHA:79246 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fever, Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Jaundice, Leukocytosis, Hemog... |
OMIM:300908 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Fatigue, Exercise intolerance, Tachycardia, Elevated circula... |
ORPHA:368 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati... |
ORPHA:231222 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Elevated circulating creatine kinase conc... |
OMIM:615418 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Bull's eye maculopathy, Optic atrop... |
ORPHA:228346 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Short stature, Hyperphosphatemia, Chest pain, Hypocalcemia, Lo... |
ORPHA:94089 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... |
OMIM:616026 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypotonia, Hyperglycinuria, Metabolic acidosis, Medi... |
OMIM:201450 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Congestive heart failure, Hypotonia, Lactic acidosis, Intrauterine ... |
OMIM:615440 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Facial palsy, Poor gross motor coordination, Pigmentary retinopathy... |
ORPHA:370968 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Metabolic acidosis, Hepatomegaly, Generalized hypotonia, Dystonia |
OMIM:618224 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Avian Influenza |
|
Respiratory distress, Elevated hepatic transaminase, Elevated circulating creatine kinase concent... |
ORPHA:454836 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Epistaxis, Portal hypertension, Nodular reg... |
OMIM:619463 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Hand mus... |
ORPHA:101077 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Anorexia, Congest... |
ORPHA:49827 |
Sulfite Oxidase Deficiency, Isolated |
|
Sulfocysteinuria, Axial hypotonia, Generalized dystonia, Elevated circulating creatine kinase con... |
OMIM:272300 |
Mitochondrial Myopathy With Lactic Acidosis |
|
Increased serum pyruvate, Fatigue, Increased serum lactate, Hypotonia, Lactic acidosis, Elevated ... |
OMIM:251950 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Elevated lactate:pyruvate ratio, Hypotonia, Lactic acidosis, Intrauterine growth retardation, Hyp... |
OMIM:618243 |
Adiposis Dolorosa |
|
Fatigue, Arthralgia, Chronic pain |
OMIM:103200 |
Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Ketonuria, Increased serum lactate, Ketoacidosis, Leukocytosis, Hypotonia, H... |
ORPHA:134 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Cimdag Syndrome |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Retinal dystrophy, Ataxia, Microvesicular hepatic ste... |
OMIM:619273 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Generalized-onset seizure, Loss of ability to walk in early childhood, E... |
OMIM:612073 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Pancytopenia, Proteinuria, Elevated circulating creatine kinase concentration, Recurrent... |
OMIM:607426 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brainstem morphology, Falls, Myoclo... |
ORPHA:2382 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Ataxia, Pa... |
ORPHA:909 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Cardiomyopathy, Hypoplasia of the brainstem, Myoclonus, Dystonia |
OMIM:619651 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Fatigue, Abnormal urinary color, Tachycardia, Fever, Autoimmune hemolytic anemia, Splenomegaly, J... |
ORPHA:90033 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Increased serum lactate, Rigidity, Unsteady gait, Dysmetria, Gait... |
OMIM:203740 |
Malignant Hyperthermia, Susceptibility To, 4 |
|
Acidosis, Rhabdomyolysis, Malignant hyperthermia |
OMIM:600467 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Laurence-Moon Syndrome |
|
Ataxia, Short stature, Spastic paraplegia, Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:245800 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Facial palsy,... |
ORPHA:79138 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Severe short stature, Ataxia, Abnormal atrioventricular conduction,... |
ORPHA:3208 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... |
ORPHA:79127 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, Seizure, 3-Methy... |
ORPHA:67046 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated lactate:pyruvate ratio, Ketonuria,... |
OMIM:615453 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart bl... |
ORPHA:416 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Bicuspid aortic valve, Babinski sign, Abnormal pyramidal sig... |
ORPHA:397951 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Facial palsy, Inability to walk, Abnormal left v... |
OMIM:613155 |
Hawkinsinuria |
|
4-hydroxyphenylacetic aciduria, Abnormal circulating tyrosine concentration, 4-Hydroxyphenylpyruv... |
ORPHA:2118 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoc... |
OMIM:618241 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Generalized-onset seizure, Facial p... |
OMIM:159950 |
Isolated Glycerol Kinase Deficiency |
|
Short stature, Elevated circulating creatine kinase concentration, Hypotonia, Metabolic acidosis,... |
ORPHA:408 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Abnormal atrioventricular conduction, Abnormal pyramidal sign, Cardiomyopathy, Pigmentary retinop... |
ORPHA:329336 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Axonal degeneration, Impaired vibration sensation in the lower limbs,... |
ORPHA:88628 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,... |
OMIM:620221 |
Asbestos Intoxication |
|
Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh... |
ORPHA:2302 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Dyspnea, Nonproductive cough, Wh... |
ORPHA:2902 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Lethal Infantile Mitochondrial Myopathy |
|
Fatal liver failure in infancy, Renal insufficiency, Cardiomyopathy, Severe lactic acidosis, Gene... |
ORPHA:254857 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Abnormal cir... |
ORPHA:369840 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Ataxia, Increased serum lactate, Tremor, Seizure, Failure to thrive |
OMIM:618951 |
Meckel Syndrome 13 |
|
Ataxia, Cerebellar hypoplasia, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI |
OMIM:617562 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Multifocal seizures, Involuntary movements, Upper limb postural tremor,... |
ORPHA:477774 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Postnatal growth retardation, Hyperlipidemia, Flexion contracture, Elbo... |
OMIM:248370 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:619473 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Increased serum pyruvate, Ataxia, Partial agenesis of the corpus callosum, Unsteady gait, Optic a... |
OMIM:245349 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated lactate:pyruvate ratio, Cholangitis, Microvesicular hepatic steatosis, Ragged-red muscle... |
OMIM:124000 |
Rheumatic Fever |
|
Fatigue, Fever, Pericarditis, Abnormal heart valve morphology, Epistaxis, Abdominal pain, Myocard... |
ORPHA:3099 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hypoglycemia, Metabolic ketoacidosis,... |
OMIM:251000 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Dysplastic tricuspid valve, Mitral valve p... |
OMIM:612863 |
Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... |
OMIM:123320 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Short stature, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressiv... |
ORPHA:289494 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Unsteady gait, Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Lactic acidosis, Hypoalbuminemia, Elevated gamma-glutamy... |
ORPHA:247598 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Optic atrophy, Cerebral atrop... |
OMIM:610217 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Myopathy, Arthralgia, Lymphocytosis, Microscopic hematuria, Hepatic ... |
ORPHA:79087 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Increased serum lactate, Proximal renal tub... |
OMIM:266150 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated circulating creatine kinase concentration, Clonus, Hypoglycemic seizures, Lactic acidosi... |
ORPHA:480864 |
Congenital Enterovirus Infection |
|
Fever, Abnormal macrophage morphology, Fetal ascites, Hypothermia, Pericardial effusion, Myocardi... |
ORPHA:292 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Calf muscle hypoplasia, Increased variability in muscle fiber diam... |
ORPHA:488650 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased circulating cerul... |
OMIM:616828 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Ataxia, Bro... |
OMIM:609033 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Increased serum lactate, Splenomegaly, Gait apraxia, Optic atroph... |
OMIM:617302 |
Cold Agglutinin Disease |
|
Fatigue, Hepatomegaly, Abnormal urinary color, Back pain, Hemolytic anemia, Splenomegaly, Arthral... |
ORPHA:56425 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Hypotonia, Increased mean corpuscular... |
OMIM:613839 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Myocardi... |
OMIM:253800 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Increased serum lactate, Lactic acidosis, Myopathy, Biventricular hypertrophy, Generalized hypoto... |
OMIM:618236 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating creatine kinase concentration, Clonus, Gait ataxia, Lactic acidosis, Ketonur... |
OMIM:616878 |
Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Ataxia, Oculomotor apraxia, Pigmentary retinopat... |
OMIM:608629 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Fatigue, Fever, Neutrophilia, Elevated... |
ORPHA:829 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypothermia, Cardiomegaly, Sudden death, Hypoto... |
OMIM:601005 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Elevated lactate:pyruvate ratio, Severe muscular hypotonia, Hypotonia, Spastic tetraplegia, Lacti... |
OMIM:615330 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, Elevated circulating acylcar... |
OMIM:615838 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoa... |
OMIM:231680 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cyanosis, Small for gestational... |
ORPHA:555874 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Multifocal seizures, Ataxi... |
OMIM:617710 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Slc35A2-Cdg |
|
Elevated hepatic transaminase, Cerebellar atrophy, Increased circulating thyroglobulin level, Abn... |
ORPHA:356961 |
Congenital Myopathy 8 |
|
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Increased vari... |
OMIM:618654 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Scapular winging, Calf muscle pseudohypertrophy, Elevated circul... |
ORPHA:353 |
Placental Insufficiency |
|
Hypoxemia, Insulin resistance, Small for gestational age, Abnormal heart morphology |
ORPHA:439167 |
Cyclic Vomiting Syndrome |
|
Exercise intolerance, Abdominal pain, Hypotonia, Growth delay, Cardiomyopathy, Pallor, Generalize... |
OMIM:500007 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, Ac... |
OMIM:300696 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Reduced vital capacity, Scapular winging, Calf muscle pseudohypertrophy, Centrally... |
OMIM:608358 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Increased serum lactate, Tremor, Abnormal pyramidal sign, Lactic acidosis, Pr... |
ORPHA:139485 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, Fasciculations, Oculomo... |
OMIM:183090 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Clumsiness, Distal sensory i... |
ORPHA:399086 |
New-Onset Refractory Status Epilepticus |
|
Cerebellar edema, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizure with ... |
ORPHA:363558 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal muscle, Respi... |
ORPHA:171445 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Axial hypotonia, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopa... |
OMIM:615959 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth delay, Choreoathetosis, Cerebellar hypopl... |
OMIM:619422 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Increased proinsulin:insulin... |
ORPHA:94086 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased vari... |
OMIM:613157 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Idiopathic Pulmonary Hemosiderosis |
|
Fatigue, Hepatomegaly, Fever, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Hear... |
ORPHA:99931 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Impaired distal vibratio... |
OMIM:610100 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue, Axial hypotonia, Oculogyric crisis, Hypotonia, Elevated urinary homovanillic acid, Dysto... |
OMIM:618049 |
Propionic Acidemia |
|
Hepatomegaly, Hyperammonemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carboxylase deficie... |
ORPHA:35 |
Acute Interstitial Pneumonia |
|
Cyanosis, Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, ... |
ORPHA:79126 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypotonia, Spastic tetraplegia, Lactic acidosis... |
OMIM:300438 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Pallor, Neutropenia, Hepatomegaly, Leukocy... |
ORPHA:90051 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H... |
ORPHA:2020 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unst... |
ORPHA:442835 |
Dubin-Johnson Syndrome |
|
Fatigue, Hepatomegaly, Abnormal urinary color, Fever, Abdominal pain, Conjugated hyperbilirubinem... |
ORPHA:234 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum lactate, Metabolic acidosis, General... |
OMIM:618958 |
Schnitzler Syndrome |
|
Fatigue, Hepatomegaly, Fever, Splenomegaly, Leukocytosis, Vasculitis, Bone pain, Arthralgia, Myal... |
ORPHA:37748 |
Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Fatigue, Mild short stature, Knee pain, Foot pain |
OMIM:600204 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating glycine concentration, Abnormal circulating tyrosine concentra... |
ORPHA:79096 |
Developmental And Epileptic Encephalopathy 82 |
|
Cerebellar vermis hypoplasia, Increased serum lactate, Inability to walk, Spastic tetraplegia, Ce... |
OMIM:618721 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegen... |
OMIM:615643 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, Lactic acidosis, 3-Methylglutaric aciduria, Renal Fancon... |
OMIM:557000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Insulin re... |
OMIM:615980 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Neonatal hypotonia, Arthrogryposis multiplex congenita, Fatigue, Hypotonia |
OMIM:616326 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein conce... |
ORPHA:36238 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Scapular winging, Elevated circulating creatine kinase concentration, Qua... |
OMIM:603689 |
3-Hydroxyisobutyric Aciduria |
|
Ketoacidosis, Lactic acidosis, Aminoaciduria, Episodic ketoacidosis, Failure to thrive |
OMIM:236795 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc... |
ORPHA:178320 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Neutral Lipid Storage Myopathy |
|
Very long chain fatty acid accumulation, Hand muscle weakness, Fatty replacement of skeletal musc... |
ORPHA:98908 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dystonia,... |
OMIM:617916 |
Oliver-Mcfarlane Syndrome |
|
Peripheral axonal neuropathy, Severe short stature, Central heterochromia, Pigmentary retinopathy... |
OMIM:275400 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... |
OMIM:270550 |
Diaminopentanuria |
|
Spasticity, Neurodegeneration, Ataxia |
OMIM:222350 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Hypotonia, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Neonatal hyperbil... |
ORPHA:95717 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Chronic fatigue, Hypersplenism, Splenomegaly, Increased cerebral lipofuscin, Bone p... |
OMIM:610539 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Hypospadias, Small for gestational age, Hypoglycemia, Increased serum lactate, Bronchiecta... |
OMIM:618253 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, I... |
OMIM:251900 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal circulating enzyme concentration or activity, Optic disc pallor, Lower limb spasticity, ... |
ORPHA:565624 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Urinary incontinence, Clonus, Degeneration of the lateral corticospinal tr... |
OMIM:600363 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Reduced beta-hexosaminidase activity, Bilateral tonic-clonic seizur... |
ORPHA:309155 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Cerebellar atrophy, Hepatomegaly, Apnea, Ataxia, Increased serum lactate, Babinski sign, Optic at... |
OMIM:618226 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ... |
OMIM:619573 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Sulfide:Quinone Oxidoreductase Deficiency |
|
Lactic acidosis, Elevated circulating creatine kinase concentration |
OMIM:619221 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Elevated circulating creatine kinase conce... |
OMIM:617070 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Somatic sensory dysfunction, Lower limb spasticity, Optic atrophy, Abnormal pyramid... |
ORPHA:1177 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Increased serum lactate, Jaundice, ... |
OMIM:274150 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Pontocerebellar Hypoplasia, Type 9 |
|
Peripheral axonal neuropathy, Facial hypotonia, Clonus, Hypoplasia of the pons, Increased serum l... |
OMIM:615809 |
Urocanase Deficiency |
|
Broad-based gait, Short stature, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Pa... |
ORPHA:276556 |
Autoinflammation With Infantile Enterocolitis |
|
Fatigue, Fever, Pancytopenia, Short stature, Elevated circulating C-reactive protein concentratio... |
OMIM:616050 |
Congenital Heart Block |
|
Fatigue, Exercise intolerance, First degree atrioventricular block, Gallop rhythm, Pericardial ef... |
ORPHA:60041 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Splenomegaly, Congestive hea... |
OMIM:230500 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Optic atroph... |
ORPHA:95 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... |
ORPHA:306692 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis |
OMIM:619470 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Fundus atrophy, Absent foveal reflex, Pigmentary... |
OMIM:204100 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Generalized amyotrophy, Hypotonia, Hypothermia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Ataxia, Hemiplegia/hemiparesis, Optic atrophy |
ORPHA:1173 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
3-Methylglutaconic Aciduria, Type Ix |
|
Epileptic spasm, Urinary incontinence, Clonus, Increased serum lactate, Optic atrophy, Cerebral a... |
OMIM:617698 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dysto... |
OMIM:617284 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ab... |
OMIM:256600 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Pa... |
ORPHA:276575 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Dystonia, Apnea, Ventricular septal defect, Increased serum lactate, Spasticity, Respiratory fail... |
OMIM:616277 |
Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Skeletal muscle atrophy, Generalized dystonia, Ataxia, Increased serum lactate, Rigidity, Focal m... |
OMIM:618239 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Optic disc pallor, Short stature, Hypoplasia of the pons, Optic atrophy, Cere... |
OMIM:608027 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Abnormal motor nerve conduction velocity, Decreased nerve conductio... |
OMIM:618404 |
Dpm1-Cdg |
|
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Optic... |
ORPHA:79322 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Hypoplasia of the brainstem, Hepa... |
OMIM:610688 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Cyanosis, Crackles, Dyspnea, Intraalveolar phospholip... |
ORPHA:747 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Pigmentary ... |
ORPHA:216866 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp... |
ORPHA:85443 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... |
OMIM:616505 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Red... |
ORPHA:505395 |
Refractory Anemia |
|
Normocytic anemia, Fatigue, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of i... |
ORPHA:98826 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Increased serum lactate, Chronic kidney disea... |
ORPHA:324525 |
Spontaneous Periodic Hypothermia |
|
Fatigue, Arrhythmia, Pallor, Hypothermia |
ORPHA:29822 |
3-Methylglutaconic Aciduria Type 9 |
|
Urinary incontinence, Clonus, Increased serum lactate, Optic atrophy, Cerebral atrophy, Seizure, ... |
ORPHA:505216 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Short stature, Elevated cir... |
OMIM:232400 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Increased serum lactate, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Spastic Paraparesis And Deafness |
|
Tremor, Short stature, Spastic paraparesis |
OMIM:312910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Cerebellar atrophy, Respiratory distress, Hepatomegaly, Elevated lactat... |
OMIM:604377 |
Joubert Syndrome 8 |
|
Optic disc pallor, Hepatomegaly, Ataxia, Pigmentary retinopathy, Hypertonia, Prolonged neonatal j... |
OMIM:612291 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Increased serum lactate, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormal... |
OMIM:615159 |
Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Renal cyst, Lactic acidosis, Abnormality of the liver, Hypocalce... |
ORPHA:699 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... |
ORPHA:280234 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Increased serum lactate, Respiratory insufficiency, Lactic acidosis, Hyperalaninemia, Hypertrophi... |
OMIM:618378 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Pancreatitis |
OMIM:620137 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Elevated lactate:pyruvate ratio, Fatigue, Exercise intolerance, Increased serum lactate, Lacticac... |
OMIM:618250 |
Myopathic Ehlers-Danlos Syndrome |
|
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... |
ORPHA:536516 |
Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Abnormal pyram... |
ORPHA:816 |
Myopathy, Myofibrillar, 2 |
|
Orthopnea, Elevated circulating creatine kinase concentration, Respiratory insufficiency due to m... |
OMIM:608810 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Short stature, Hyperphosphatemia, Chest pain, Hypocalcemia, Lo... |
ORPHA:79444 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:616239 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Elevated lactate:pyruvate ratio, Hepatomegaly, Hyponatremia, Elevated circulating creatine kinase... |
OMIM:610505 |
Non-Functioning Paraganglioma |
|
Fatigue, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive he... |
ORPHA:94080 |
Perrault Syndrome 5 |
|
Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Increased s... |
OMIM:616138 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Respiratory insufficiency, Lactic acidosis, Left ventricular noncompac... |
OMIM:615917 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Optic neuropathy, Increased serum lactate, Axonal degeneration, P... |
ORPHA:478029 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
Myopathy, Tubular Aggregate, 1 |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Respiratory insufficienc... |
OMIM:160565 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Redundant neck skin, Increased serum lactate, Lactic acidosis, Neo... |
OMIM:610498 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Ataxia, Increased seru... |
OMIM:620089 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Metabolic acidosis, Skeletal muscle atrophy, Myopathy, Hyperalaninemia |
ORPHA:2597 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Elevated lactate:pyruvate ratio, Increased serum lactate, Postnatal growth retardation, Hypotonia... |
OMIM:616111 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Elevated lactate:pyruvate ratio, Increased serum lactate, Lacticaciduria, Res... |
OMIM:618247 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Short stature, Ataxia, Po... |
ORPHA:1170 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Waddling gait, Elevated circulating creatine kinase concentration, Myopathy, Proximal muscle weak... |
ORPHA:1878 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Increased serum la... |
OMIM:605711 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Lactic acidosis, Choreoathetosis, Seizure, A... |
OMIM:618238 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar vermis hypoplasia, Tremor, Dysmetria, Lactic acidosis, Hypoplasia of the brainstem, Ge... |
ORPHA:572798 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Ataxia, Tremor, Hypertension, Abnormality... |
ORPHA:97229 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Increased serum lactate, Hypotonia, Renal cys... |
ORPHA:445038 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Ataxia, Bilateral tonic-clonic seizure, Gener... |
ORPHA:435638 |
Patent Ductus Venosus |
|
Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decreased liver functio... |
OMIM:601466 |
Evans Syndrome |
|
Fatigue, Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropen... |
ORPHA:1959 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hypoglycemia, Respiratory insufficiency, Hyperammonemia, Abnormal c... |
ORPHA:6 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Hypoplasia of the pons, Optic atrophy, Cardio... |
ORPHA:1493 |
Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Apla... |
ORPHA:65 |
Hypotonia-Cystinuria Syndrome |
|
Axial hypotonia, Facial palsy, Increased serum lactate, Postnatal growth retardation, Ragged-red ... |
OMIM:606407 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Fatigue, Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congesti... |
ORPHA:90037 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Lactic acidosis, Renal Fanconi syndrom... |
ORPHA:53693 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Fatigue, Fever |
ORPHA:86893 |
Developmental And Epileptic Encephalopathy 51 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Elevated lactate:pyruvate ratio, Epileptic spasm, In... |
OMIM:617339 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Limb ataxia, Gait ataxia, ... |
OMIM:615651 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Ethylmalonic Encephalopathy |
|
Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Lactic acidosis, Acrocy... |
ORPHA:51188 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... |
OMIM:617093 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centra... |
OMIM:617760 |
Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Fatigue, Short stature, Abnormal aortic valve morphology |
ORPHA:577 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Increased serum lactate, Hyperammonemia, Metabolic acidosis, Lactic acidosis, Respi... |
OMIM:610678 |
Thyroid Hemiagenesis |
|
Fatigue, Jaundice, Hypotonia, Growth delay, Macroglossia |
ORPHA:95719 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Short stature, Ataxia, Postural tremor, Impaired distal proprioception, Babinski sign, ... |
ORPHA:447896 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Hypotonia,... |
ORPHA:858 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy, Dystonia, Focal substanti... |
OMIM:256000 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Neuraminidase Deficiency |
|
Skeletal muscle atrophy, Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinu... |
OMIM:256550 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Urinary incontinence, Clonus, Chorea, Upper-limb joint contracture, Opis... |
ORPHA:300605 |
Intellectual Developmental Disorder, Autosomal Recessive 1 |
|
Increased serum lactate, Babinski sign |
OMIM:249500 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, In... |
ORPHA:79282 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Hypotonia, Lactic acidosis, Myopathy, Intrauterine growth retardation, Nemaline bodies |
OMIM:618246 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hyperte... |
OMIM:619111 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fatigue, Hepatomegaly, Fever, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukem... |
ORPHA:3226 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Lactic acidosis, Aminoaciduria, Proximal tubulopathy... |
OMIM:612075 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction,... |
ORPHA:83597 |
Undifferentiated Pleomorphic Sarcoma |
|
Fatigue, Abnormal peritoneum morphology, Anorexia, Weight loss |
ORPHA:2023 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
3-Methylglutaconic Aciduria, Type I |
|
Ataxia, Urinary incontinence, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Metabolic aci... |
OMIM:250950 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Elevated circulating creatine kinase concentration, Fatty r... |
OMIM:613204 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Rigidity, Glutaric aciduria, Hypotonia, Spastic diplegia, Opisthotonus, ... |
OMIM:231670 |
Wilson Disease |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Back pain, Splenomegaly, Jaun... |
ORPHA:905 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Short stature, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmet... |
OMIM:614381 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Epileptic spasm, Ataxia, Spastic tetraplegia, Seizure, Cerebellar hypoplasia,... |
OMIM:619971 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Increased serum pyruvate, Cerebellar atrophy, Ataxia, Elevated circulating creatine kinase concen... |
OMIM:619405 |
Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Meta... |
OMIM:222748 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Lactic acidosis, Hypocalcemia, Failure to thrive |
ORPHA:163693 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fatigue, Tachycardia, Increased body weight, Agitation, Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal medulla oblongata morphology, Ataxia, Incoordination, Babi... |
OMIM:601992 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Agitation, Palpitations, Pallor, D... |
ORPHA:276580 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Action trem... |
ORPHA:93952 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Combined Oxidative Phosphorylation Deficiency 43 |
|
Increased serum lactate, Small for gestational age, Elevated circulating creatine kinase concentr... |
OMIM:618851 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Respiratory failure requiring assisted ventilation, Nemaline bodies, Increased variability in mus... |
OMIM:620265 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventila... |
OMIM:612387 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Bone pain, Arthralgia, Pallor, Myeloid leukemia, Fatigue, Hepatomegaly, Neutro... |
ORPHA:98849 |
Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Ataxia, Splenomegaly, Oculomotor apraxia, Molar tooth sign on MRI |
OMIM:617767 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:620286 |
Melas |
|
Wolff-Parkinson-White syndrome, Agenesis of corpus callosum, Abnormal central motor function, Sho... |
ORPHA:550 |
Isolated Agammaglobulinemia |
|
Fatigue, Recurrent cutaneous abscess formation, Failure to thrive, Short stature, Abnormality of ... |
ORPHA:229717 |
Congenital Myopathy 14 |
|
Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexion contracture, El... |
OMIM:618414 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Facial palsy, Elevated circulating creatine kinase concentration, Dyspnea, Flexion... |
OMIM:603511 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... |
ORPHA:3202 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Elevated circulating creatine kinase concentration, Proximal upper limb amyotrophy, Myopathy, Sho... |
OMIM:609115 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Ataxia, Gait ataxia, Spinocerebel... |
OMIM:215470 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:618129 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... |
ORPHA:254892 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... |
OMIM:614300 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Lateral ventricle dilatation, Cerebral... |
ORPHA:306669 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic paraplegia, Cerebral atro... |
ORPHA:83629 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Dilated cardiom... |
OMIM:615084 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Elevated lactate:pyruvate ratio, Generalized-ons... |
OMIM:619737 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Short stature, Tremor, Dysmetria, Growth delay, P... |
ORPHA:502423 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Ventricular septal def... |
OMIM:615673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased serum lactate, Hypotonia, Hy... |
OMIM:619064 |
Merrf |
|
Ataxia, Ragged-red muscle fibers, Optic atrophy, Myopathy, Generalized myoclonic seizure |
ORPHA:551 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Apnea, Clonic seizure, Chorea, Athetosis, Myoclonus, Increased variability in ... |
OMIM:617235 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... |
ORPHA:309246 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein... |
ORPHA:60025 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Short stature, Nephrotic range proteinuria, Generalized hypotonia,... |
ORPHA:300536 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Loss of ability to walk in early childhood, Ataxia, Increased serum lactate, Unsteady gait, Optic... |
ORPHA:401866 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Apnea, Ataxia, Increased serum lactate, Myoclonic seizure, Metabolic ac... |
OMIM:618225 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Quadriceps ... |
OMIM:620389 |
Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Dilated cardiomyopathy, Erythema, Pyoderma... |
OMIM:608068 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Hypotonia, Myocardial fibrosis, Meta... |
OMIM:617222 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Hypotonia, Generalized limb muscle atrophy, Lactic acidosis, Myopathy, Delayed puberty, Anemia |
ORPHA:2598 |
Oculopharyngodistal Myopathy 2 |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Increas... |
OMIM:618940 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary retinopathy, Attenuatio... |
OMIM:204000 |
American Trypanosomiasis |
|
Fever, Hepatomegaly, Abdominal pain, Splenomegaly, Myocarditis, Congestive heart failure, Cardiom... |
ORPHA:3386 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Ventricular septal defect, Partial atrioventricular canal defect, Hypopl... |
OMIM:615996 |
Mitochondrial Complex I Deficiency, Nuclear Type 23 |
|
Skeletal muscle atrophy, Increased serum lactate, Hypotonia, Growth delay, Generalized hypotonia,... |
OMIM:618244 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Short stature, Hypertension, Hyperphosphatemia, Chest pain, Hy... |
ORPHA:79443 |
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Increased serum pyruvate, Spastic tetraparesis, Increased serum lactate, Respiratory insufficienc... |
OMIM:617668 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Retinal atrophy, Gait ... |
ORPHA:412057 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Hepatocellular carcinoma, Microvesicular hepatic ... |
OMIM:256810 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Bilateral tonic-clonic seizure, Tonic seizure, Increased serum lactate, Clonic seizure, Re... |
OMIM:617290 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Axial hypotonia, Spasticity, Lactic acidosis, Generalized hypotonia, Hypertrophic cardiomyopathy |
OMIM:618229 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Achilles tend... |
OMIM:607155 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Abnormal urinary color, Tachycardia, Fever, Autoimmune hemolytic anemia, Arthralgia, Pal... |
ORPHA:90036 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Athyreosis |
|
Growth delay, Macroglossia, Fatigue, Short stature |
ORPHA:95713 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Distal lower limb muscle weakness, Urinary incontinence, Atrophy/... |
ORPHA:139399 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Ragged-red muscle fibers, Opt... |
ORPHA:99013 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypotonia, Growth delay, Aminoaciduria |
ORPHA:79238 |
Myopathy, Distal, Tateyama Type |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:614321 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypotonia, Cardiomyopathy, Generalized hypotonia... |
OMIM:608540 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Poretti-Boltshauser Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Retinal atrophy, Re... |
OMIM:615960 |
Infantile Refsum Disease |
|
Hepatomegaly, Very long chain fatty acid accumulation, Short stature, Facial palsy, Ataxia, Optic... |
ORPHA:772 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Abnormal peritoneum morphology, Hepatomegaly, Fatigue, Hepatic cys... |
ORPHA:400 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Exercise intolerance, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
ORPHA:352447 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... |
ORPHA:178400 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Ventricular septal defect, Short stature, Ataxia, Situs inversus totalis... |
OMIM:249270 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Choreoathetosis, Limb dystonia, Loss of ambulation, Retinal degeneration,... |
ORPHA:157850 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Generalized-onset seizure, Ataxia, Renal salt w... |
ORPHA:199343 |
Aggressive Systemic Mastocytosis |
|
Bone pain, Arthralgia, Neutropenia, Fatigue, Portal hypertension, Abdominal pain, Leukocytosis, H... |
ORPHA:98850 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Elevated proportion of CD4-negati... |
OMIM:619802 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dy... |
OMIM:612674 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Fever, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:154276 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Hemiplegia, Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Myopathy With Lactic Acidosis, Hereditary |
|
Exercise intolerance, Skeletal muscle atrophy, Sideroblastic anemia, Elevated circulating creatin... |
OMIM:255125 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Lactic acidosis, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:614053 |
Joubert Syndrome 22 |
|
Agenesis of cerebellar vermis, Temporal cortical atrophy, Retinal dysplasia, Oculomotor apraxia, ... |
OMIM:615665 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Acidosis, Stage 5 chronic kidney disease, Lobul... |
OMIM:137950 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Pa... |
ORPHA:324575 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, S... |
OMIM:616108 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal urinary color, Exercise intolera... |
ORPHA:98895 |
Eosinophilic Fasciitis |
|
Fatigue, Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthralg... |
ORPHA:3165 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypoglycemia, Incr... |
OMIM:619055 |
Legionnaires Disease |
|
Hyponatremia, Fatigue, Pericarditis, Renal insufficiency, Proteinuria, Fever, Abdominal pain, Spl... |
ORPHA:549 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Short stature, Ataxia, Writer's cramp, Tremor, Inability ... |
OMIM:312080 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Short stature, Ataxia, Hepatomegaly,... |
OMIM:615356 |
Cystinosis |
|
Fatigue, Fever, Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Renal tubul... |
ORPHA:213 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra... |
OMIM:614723 |
Meningioma |
|
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Abnormal cerebellum morphology, Ragged-red muscle fibers, Babinski sign, Generalized non-... |
OMIM:618242 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Respiratory insufficiency, Distal amyotrophy, Type 1 muscle fiber predominance, ... |
OMIM:619042 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circulating creatine kina... |
ORPHA:97240 |
Harel-Yoon Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Increased serum lactate, Inability to w... |
OMIM:617183 |
Joubert Syndrome 4 |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Ataxia, Abnormal renal medulla morphology, Ocu... |
OMIM:609583 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, ... |
ORPHA:163596 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth delay, Cardiomyopathy, Pigmentary retinop... |
OMIM:222300 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Reduced vital capacity, Scapular winging, Abnormality of the musculature of the lower limbs, Urin... |
ORPHA:329478 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis |
OMIM:260400 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Fatigue, Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomega... |
ORPHA:465508 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Neonatal hypotonia, Dry skin |
ORPHA:226313 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Hypertonia, Aplasia/Hypoplasia... |
ORPHA:2518 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ... |
OMIM:619738 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... |
OMIM:229600 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:310200 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red... |
OMIM:610913 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atr... |
OMIM:617435 |
Congenital Myopathy 10B, Mild Variant |
|
Elevated circulating creatine kinase concentration, Elbow contracture, Reduced forced vital capac... |
OMIM:620249 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration |
OMIM:162100 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ventricular septal defect, Flexion contra... |
OMIM:619306 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... |
ORPHA:206594 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Generalized-onset seizure, Apnea, Febrile status epilepticus, Tonic seizure, Increased serum lact... |
OMIM:612949 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Failure to thrive, Proteinuria, Small for gestationa... |
ORPHA:97362 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hepatocellular carcinom... |
OMIM:277900 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Pneumonia, Dyspnea, Intraalveolar phospholipid accumulation, Inspiratory crackles, Hypo... |
OMIM:610910 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Elevated circulating creatine kinase concentration, Increased circulating myelocyte cou... |
ORPHA:36234 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Short stature, Aplastic anemia, Facial erythema, Growth delay, Telangiectasia, Neutro... |
ORPHA:221008 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Arthralgia, Hepatomegaly, Rena... |
OMIM:615688 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Cerebellar vermis hypoplasia, Short stature, Truncal titubation, Optic atrophy, Abnormal pyramida... |
OMIM:618800 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, Tremo... |
OMIM:614018 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia, Hypotonia, Generalized hypotonia, Neonatal hypotonia, Spasticity |
OMIM:618557 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Axial hypotonia, Elevated circulating aspartate aminotransferase concentration, Spa... |
OMIM:614924 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Typhoid |
|
Fatigue, Hepatomegaly, Gastrointestinal hemorrhage, Fever, Epistaxis, Cardiac arrest, Abdominal p... |
ORPHA:99745 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, Increased variability in muscle fiber... |
OMIM:617915 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Metabolic acidosis, Respiratory failure requiring assisted ventilation, Lactic acidosis |
OMIM:618776 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Hypotonia, Abnormal muscle fiber protein expression, Lactic acidosis, Infantile axial hypotonia, ... |
ORPHA:330054 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concentration, In... |
OMIM:617069 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar vermis hypoplasia, Left ventricular systolic dysfunction, Facial palsy, Inability to w... |
OMIM:613156 |
Hereditary Continuous Muscle Fiber Activity |
|
Ataxia, Elevated circulating creatine kinase concentration, Congenital diaphragmatic hernia, Slur... |
ORPHA:972 |
Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Pigmentar... |
OMIM:617675 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Skeletal muscle atrophy, Macrocytic anemia, Increased serum lactate, Hypotonia, Methylmalonic aci... |
OMIM:615578 |
Fanconi-Bickel Syndrome |
|
Chronic acidosis, Fasting hypoglycemia, Acidosis, Hepatomegaly, Ketonuria, Hypouricemia, Elevated... |
OMIM:227810 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Ataxia, Gait disturbance, Ganglioside accumulation, Retinopathy |
ORPHA:578 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ve... |
ORPHA:79128 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Short stature, Delayed puberty |
ORPHA:90154 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Paroxysmal dystonia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbanc... |
ORPHA:79244 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Increased serum lactate, Flexion contracture, Renal hypoplasia, Lacti... |
OMIM:604273 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Abnormality of s... |
ORPHA:79083 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachypnea, Elevated circulating creatinine concentration, Hypoxemi... |
ORPHA:542323 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Hypoplasia of the pons, Focal-onset seizure, Oromotor apraxia, Abnormal brain... |
ORPHA:300573 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Elevated circulating creatine kinase concentration, Frequent falls, Abnormal muscle ... |
ORPHA:75840 |
Primary Erythromelalgia |
|
Erythema, Vasculitis, Leukemia, Hypothermia |
ORPHA:90026 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Facial palsy, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myopath... |
OMIM:602541 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Metabo... |
OMIM:611555 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Increased urine alpha-ketoglutarate concentration, Ataxia, Increased se... |
OMIM:619224 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... |
ORPHA:1145 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature |
OMIM:300271 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Splenomegaly, Abnormality of skeletal muscle ... |
ORPHA:2348 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Fatigue, Abnormal pericardium morphology, Portal hyperten... |
ORPHA:284 |
Smith-Magenis syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Self-mutilation |
DECIPHER:8 |
Joubert Syndrome 27 |
|
Ataxia, Gait ataxia, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI |
OMIM:617120 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Abnormal substantia nigra morphology, Parkinsonism, Rigidity, Babinski sign, Optic atro... |
ORPHA:289560 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Hypotonia, Cholestasis, Hepatospleno... |
ORPHA:541423 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Short stature, Ataxia, Rigidity, Tremor, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Familial Atrial Fibrillation |
|
Exercise intolerance, Fatigue, Chest pain |
ORPHA:334 |
D-Glyceric Aciduria |
|
Abnormal circulating enzyme concentration or activity, Increased circulating free fatty acid leve... |
ORPHA:941 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Flexion contracture, Myopat... |
OMIM:616471 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Lower limb spasticity, Proteinu... |
ORPHA:90321 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Spastic dysarthria, Spasticity of facial muscles, ... |
OMIM:606353 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Impaired temperature sensation, Impaired distal proprioception, Abnormal b... |
ORPHA:320365 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, As... |
ORPHA:70588 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Axial hypotonia, Splenomegaly, Schistocytosis, Hypotonia, Hypochromic micro... |
OMIM:616084 |
Pfapa Syndrome |
|
Fatigue, Hepatomegaly, Abnormality of temperature regulation, Abdominal pain, Splenomegaly, Arthr... |
ORPHA:42642 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Congenital Myopathy 3 With Rigid Spine |
|
Reduced vital capacity, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contrac... |
OMIM:602771 |
Genetic Recurrent Myoglobinuria |
|
Myositis, Recurrent myoglobinuria, Abnormality of glycolipid metabolism, Exercise-induced myoglob... |
ORPHA:99845 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Abnormal retinal vascular morphology, Optic a... |
ORPHA:2715 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Urinary incontinenc... |
OMIM:617114 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Peripheral axonal neuropathy, Abnormal substantia nigra morphology, Ataxia, Parkinsonism, Overwei... |
ORPHA:2822 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macrosc... |
ORPHA:251004 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, G... |
ORPHA:445062 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
Pyruvate Carboxylase Deficiency |
|
Elevated lactate:pyruvate ratio, Tremor, Cerebellar gliosis, Tachypnea, Abnormal pyramidal sign, ... |
ORPHA:3008 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecific interstitial pn... |
OMIM:610921 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:612999 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Short stature, Aplastic anemia, Erythema, Facial erythema, Growth delay, Neutropenia,... |
ORPHA:221016 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci... |
ORPHA:98907 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Dystonia, Involuntary movements, Chorea, Cerebral atrophy, Athetosis, Hyperki... |
OMIM:617493 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... |
ORPHA:391411 |
Alzheimer Disease 3 |
|
Dystonia, Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Gait disturbance, Myoclon... |
OMIM:607822 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at... |
OMIM:137440 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Apnea, Hypoglycemia, Dyspnea, Metabolic acidosis, Hyper... |
OMIM:229700 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide... |
OMIM:615238 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Telangiectasia of the skin, El... |
OMIM:615381 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Metabolic acidosis, Glycosuria,... |
OMIM:615605 |
N-Acetylaspartate Deficiency |
|
Inguinal hernia, Short stature, Decreased body weight, Abnormal repetitive mannerisms, Self-mutil... |
OMIM:614063 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Postural tremor, Fatty r... |
OMIM:619790 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Respiratory distress, Hepatomegaly, Ataxia, Elevated circulating c... |
OMIM:608799 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ventricular septal defect, Crackles, Asthma,... |
OMIM:610978 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Hypoxemia, Acidosis |
ORPHA:464453 |
Mitochondrial Trifunctional Protein Deficiency |
|
Exercise intolerance, Rigors, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, ... |
ORPHA:746 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Short stature, Hypothermia, Hypotonia, Cutis l... |
OMIM:309400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Ketonuria, Increased serum lactate, Renal hypoplasia, Metabolic acidosis, Hypertrop... |
OMIM:619053 |
Isovaleric Acidemia |
|
Metabolic acidosis |
ORPHA:33 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Rhabdomyolysis, Metabolic acidosis, Decreased liver function, Neonatal death, Myoglobinuria |
OMIM:602199 |
Familial Thyroid Dyshormonogenesis |
|
Hypothermia, Hypotonia, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Abnormal circulat... |
ORPHA:95716 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Axonal degeneration, Scissor gait, Defective DNA repair a... |
OMIM:278800 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Centrally nucleated skel... |
OMIM:620235 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Pericarditis, Cerebellar vermis hypoplasia, Ataxia,... |
OMIM:212065 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue |
ORPHA:79299 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic f... |
ORPHA:280356 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Short stature, Impaired distal vibration sens... |
ORPHA:98768 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Acute hyperammonemia, Ketonuria, Ketoacidosis, Hypotonia, Hyperammonemia... |
OMIM:210210 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski... |
OMIM:610246 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Axial dystonia, Respiratory failure requiring assisted ventilation, Failure to thrive in infancy,... |
OMIM:619026 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Dysplastic corpus callosum, Nephrocalcinosis, Hypocalcemia, Abnormal thalamus morp... |
ORPHA:557003 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Tremor, Abnormal pyramidal sign, Choreoathetosis, Retinal degeneration, Eyelid apraxia, Ataxia, P... |
OMIM:234200 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Fever, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyper... |
OMIM:154275 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Calcinosis |
OMIM:610455 |
Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Dilated cardiomyopathy, Ventricular septal defect, Degenerative vitreoretinopathy |
OMIM:607598 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Dyspnea, Insulin resistance, Elevated urinary dopamine level, Elevated circulating ... |
ORPHA:230 |
Developmental And Epileptic Encephalopathy 99 |
|
Cerebellar atrophy, Central apnea, Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic s... |
OMIM:619606 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Cerebellar atrophy, Clonus, Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Prolonge... |
OMIM:618868 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Generalized-onset seizure, Bilateral tonic-clonic seizure, Tremor, Focal-... |
ORPHA:36387 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Short stature, Splenomegaly, Hypotonia, Aminoaciduria |
ORPHA:417 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, C... |
OMIM:618321 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Broad-based gait, Multiple joint contractures, Hypospadias, Small ... |
ORPHA:2959 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... |
OMIM:181400 |
Joubert Syndrome 7 |
|
Central apnea, Ataxia, Brainstem dysplasia, Episodic tachypnea, Oculomotor apraxia, Tachypnea, St... |
OMIM:611560 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Saccharopinuria |
|
Citrullinuria, Tremor, Hypercystinemia, Hyperammonemia, Cystinuria, Gait ataxia, Spastic diplegia... |
ORPHA:3124 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Respiratory distress, Skeletal muscle atrophy, Hypospadias, Increased serum l... |
OMIM:619272 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Increased serum lactate, Babinski sign, Spasti... |
OMIM:619847 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin |
OMIM:212112 |
Necrotizing Enterocolitis |
|
Hyponatremia, Apnea, Small for gestational age, Increased serum lactate, Peritonitis, Abnormal he... |
ORPHA:391673 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Aplastic anemia, Telangiectasia of the skin, Short stature, Neutropenia, Leukemia, An... |
ORPHA:2909 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Rhizomelia, Ataxia, Tremor, Congestive heart failure, Cerebral atrophy, Opist... |
OMIM:616271 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Parkinsonism, Increased serum lactate, Ragged-red muscle fibers, Limb muscle w... |
OMIM:609286 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Lactic acidos... |
OMIM:540000 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypo... |
OMIM:603903 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Death in infancy, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyo... |
OMIM:619433 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Hyper... |
OMIM:251120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Short stature, Pigmentary retinopathy, Brain atrophy, Pulmonary arterial hypertension, Spasticity |
OMIM:619059 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Increased serum lactate, Hyperprolinemia, Seizure, Perimembranou... |
OMIM:619170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar dysplasia, Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hypopla... |
OMIM:615181 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Respiratory insufficie... |
ORPHA:598 |
Leukodystrophy, Hypomyelinating, 4 |
|
Apnea, Increased serum lactate, Head titubation, Flexion contracture, Babinski sign, Spastic para... |
OMIM:612233 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Sudden cardiac death, Pericardial effusion, Abnormal renal tubul... |
ORPHA:73224 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Elevated circulating creatine kinase concentration... |
ORPHA:424107 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Respiratory failure requiring assisted ventilation, Hype... |
ORPHA:77293 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Cardiomyopat... |
ORPHA:119 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cerebellar dysplasia, Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, ... |
OMIM:613153 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal... |
ORPHA:446 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum, Lateral ventricle d... |
OMIM:619517 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Fatty replacement of... |
OMIM:608807 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Increased serum lactate... |
ORPHA:496790 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Lactic acidosis, Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Increased serum lactate, Inability to walk, Tremor, Optic atrophy, Horseshoe ... |
OMIM:617664 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Biliary hyperpl... |
ORPHA:567983 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Hypoxemia, Atrial septal def... |
ORPHA:439 |
Cataract-Ataxia-Deafness Syndrome |
|
Short stature, Ataxia, Decreased nerve conduction velocity, Tremor, Hypertonia |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Increased serum lactate, Axonal loss, Difficulty walking, Dyston... |
OMIM:616684 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Reduced vital capacity, Scapular winging, Flexion contrac... |
OMIM:609285 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... |
ORPHA:71 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Elevated circulating creatine kinase ... |
OMIM:609500 |
Cinca Syndrome |
|
Fatigue, Hepatomegaly, Fever, Elevated circulating C-reactive protein concentration, Abnormality ... |
ORPHA:1451 |
D-Glyceric Aciduria |
|
Neonatal respiratory distress, Hypoglycemia, Optic nerve hypoplasia, Bilateral tonic-clonic seizu... |
OMIM:220120 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Spastic paraplegia, Optic atrophy, Cardiomyopathy, A... |
ORPHA:1215 |
Distal Myotilinopathy |
|
Multiple joint contractures, Elevated circulating creatine kinase concentration, Loss of ability ... |
ORPHA:98911 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Neonatal respiratory distress, Pain insensitivity, Elevated circulating hexaco... |
OMIM:614388 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Fatigue, Hypothermia, Hypotonia, Dry skin, Growth delay, Macroglossia, Bradycardia, Prolonged neo... |
ORPHA:90674 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Weight loss, Cholesta... |
ORPHA:65682 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Short stature, Ataxia, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, G... |
OMIM:616541 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Ventricular septal defect, Short stature, Sple... |
ORPHA:290 |
Galactokinase Deficiency |
|
Hepatomegaly, Small for gestational age, Hypoglycemia, Neonatal asphyxia, Hyperinsulinemia, Hepat... |
ORPHA:79237 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Simple Cryoglobulinemia |
|
Myocardial infarction, Mesangial hypercellularity, Arthralgia, Acral ulceration, Nephritis, Fatig... |
ORPHA:91139 |
Leber Optic Atrophy |
|
Ataxia, Postural tremor, Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atro... |
OMIM:535000 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Seizure |
OMIM:618763 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Metabolic acidosis, Hypokalemia, Distal renal tubular acidosis,... |
OMIM:602722 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Increased serum lactate, Nephrotic syndrome, Hypoalbuminemia, Decreased level of coe... |
OMIM:614652 |
Q Fever |
|
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Fatigue, Hepatomegal... |
ORPHA:781 |
Arima Syndrome |
|
Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas... |
OMIM:243910 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Abnormal mitral valve morphology, Tremor, Nephrotic syndrome, Hypertonia, Gait distu... |
ORPHA:1192 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Gait disturbance |
ORPHA:101078 |
Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Abnormal py... |
ORPHA:101070 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Insulin resistance, Recu... |
OMIM:214150 |
Hypotonia-Cystinuria Syndrome |
|
Fatigue, Nephrolithiasis, Hypotonia, Cystinuria, Growth delay |
ORPHA:163690 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi... |
OMIM:232240 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic ki... |
ORPHA:275555 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Arrhythmia, Facial palsy |
ORPHA:68 |
Pyridoxine-Dependent Epilepsy |
|
Early onset absence seizures, Neonatal respiratory distress, Epileptic spasm, Hypoglycemia, Neona... |
ORPHA:3006 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Ataxia, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI |
OMIM:614464 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Short stature, Minimal chang... |
OMIM:618348 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Babinski sign, Optic atrophy, Vestibular areflexia, Dysmetria, Gait ataxia, Progressive cerebella... |
ORPHA:504476 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Elevated lactate:pyruvate ratio, Apnea, ... |
OMIM:252010 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Abnormal repetitive man... |
ORPHA:352490 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Hematochezia, Pigmentary ret... |
ORPHA:79095 |
Hereditary Xanthinuria |
|
Crystalluria, Reduced xanthine dehydrogenase level, Recurrent urinary tract infections, Hypourice... |
ORPHA:3467 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Ventricular septal defect, Short stature, Postnatal growth retardation, Splenomegal... |
OMIM:620210 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Cirr... |
ORPHA:528 |
Joubert Syndrome 20 |
|
Oculomotor apraxia, Inability to walk, Retinopathy, Molar tooth sign on MRI |
OMIM:614970 |
Myopathy, Distal, 3 |
|
Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, EMG: myopathic abnormalities, J... |
OMIM:610099 |
Marburg Hemorrhagic Fever |
|
Back pain, Elevated circulating creatine kinase concentration, Lactic acidosis, Leukopenia, Arthr... |
ORPHA:99826 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Leukopenia, Ecchymosi... |
ORPHA:319213 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... |
OMIM:269920 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Increased serum lactate, Impaired vibration sensation in the lower limbs, Generalized limb muscle... |
ORPHA:521411 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Elevated circulating creatine kinase concentration, Clonus, Infantile spasms, Focal-onset seizure... |
OMIM:620240 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Hypertonia, Heterochro... |
ORPHA:1390 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:620138 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Elevated circulating creatine kinase concent... |
OMIM:248800 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Inability to walk, Res... |
OMIM:617066 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Axial hypotonia, Hypothermia, Rigidity, Hypertonia, Bradycardia, Joint contracture, Limb hypertonia |
OMIM:614498 |
Miyoshi Muscular Dystrophy 1 |
|
Elevated circulating creatine kinase concentration, Distal amyotrophy, Tip-toe gait, Muscular dys... |
OMIM:254130 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance,... |
ORPHA:542310 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... |
ORPHA:466768 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Hypotonia, Increased muscle glycogen content, Growth d... |
OMIM:261750 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Arthralgia, Pa... |
ORPHA:3260 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Postexe... |
ORPHA:57777 |
Immunodeficiency, Common Variable, 11 |
|
Fatigue, Failure to thrive, Growth delay, Decreased proportion of class-switched memory B cells |
OMIM:615767 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... |
OMIM:157640 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Respiratory insufficiency due to muscle we... |
OMIM:254090 |
Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Lactic acidosis, Acrocyanosis, Ethylmalonic ... |
OMIM:602473 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased serum lactate, Thrombocytopenia, Copper accumulation in liver, Hypotonia, Lactic acidos... |
OMIM:614946 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Short stature, D... |
OMIM:232200 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Hypercapnia |
OMIM:601887 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology, Seizure, Febrile seizure (within the age ra... |
ORPHA:404440 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased muscle mass, Abdominal pain, Ragged-red muscle fibers, L... |
ORPHA:298 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Generalized hypotonia, Cirrhosis, Neon... |
OMIM:601539 |
Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
Acute Promyelocytic Leukemia |
|
Fatigue, Pancytopenia, Petechiae, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar hemorrhag... |
ORPHA:520 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Cerebellar atrophy, Skeletal muscle atrophy, Small for gestational... |
OMIM:615471 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Ataxia, Atrophy/Degenera... |
ORPHA:88644 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased cervical spin... |
ORPHA:98863 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Epileptic spasm, Increased serum lactate, Cerebral atrophy, Myoclonus, Decrea... |
OMIM:619060 |
Cardiogenic Shock |
|
Increased pulmonary capillary wedge pressure, Crackles, Increased serum lactate, Dyspnea, Elevate... |
ORPHA:97292 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Cerebellar atrophy, Chronic axonal neuropathy, Skeletal muscle atr... |
ORPHA:95428 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Sialidosis Type 2 |
|
Hepatomegaly, Ataxia, Short stature, Tremor, Splenomegaly, Abnormal macular morphology |
ORPHA:87876 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Failure t... |
OMIM:264350 |
Myopathy, Centronuclear, 4 |
|
Centrally nucleated skeletal muscle fibers, Seizure, Abnormal circulating creatine kinase concent... |
OMIM:614807 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... |
OMIM:617397 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... |
OMIM:605637 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Coach Syndrome 3 |
|
Renal insufficiency, Ataxia, Oculomotor apraxia, Stage 5 chronic kidney disease, Renal interstiti... |
OMIM:619113 |
Mitochondrial Complex I Deficiency, Nuclear Type 24 |
|
Increased serum lactate |
OMIM:618245 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Myocardial infarction, Tubulointerstitial nephritis, Arthralgia, Fatigue, Glomerulopath... |
ORPHA:183 |
Congenital Gerbode Defect |
|
Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morphology, Constri... |
ORPHA:99095 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency, Metabolic acidosis, Lactic acidosis, Hypertrophic cardiomyop... |
OMIM:610773 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Overhydrated Hereditary Stomatocytosis |
|
Fatigue, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaund... |
OMIM:185000 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Ring Chromosome 14 Syndrome |
|
Growth delay, Pigmentary retinopathy |
OMIM:616606 |
Methylmalonic Acidemia With Homocystinuria |
|
Fatigue |
ORPHA:26 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... |
OMIM:605676 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Increased serum lactate, Optic atrophy, Bradykinesia, Athetosis, Dystoni... |
OMIM:500001 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Increased serum lactate, Hypotoni... |
OMIM:614105 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Increased serum lactate, Hypotonia, Hypoplastic left heart, Bradycardi... |
OMIM:616276 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Pallor, Fail... |
ORPHA:90045 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Tremor, Rigidity, Splenomegaly, Dystonia, Loss of ambulation, Intrauterine growth r... |
OMIM:615010 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... |
OMIM:618484 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Increase... |
OMIM:235200 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Fatigue, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, ... |
ORPHA:276621 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... |
OMIM:145600 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Facial palsy... |
ORPHA:31826 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Neonatal respiratory distress, Spinal musc... |
OMIM:616867 |
Joubert Syndrome 32 |
|
Ataxia, Large for gestational age, Abnormal cerebellum morphology, Oculomotor apraxia, Molar toot... |
OMIM:617757 |
Familial Atrial Myxoma |
|
Fever, Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Co... |
ORPHA:615 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Abnormal T cell count, Abnormal B cell count,... |
ORPHA:331206 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Ataxia, Heart block, Hemiplegia/hemiparesis, Splenomegaly, A... |
ORPHA:773 |
Shigellosis |
|
Abnormal blood ion concentration, Hypovolemic shock, Hyponatremia, Fatigue, Abdominal pain, Hemol... |
ORPHA:810 |
Glycogen Storage Disease Ii |
|
Exercise intolerance, Hepatomegaly, Wolff-Parkinson-White syndrome, Increased circulating NT-proB... |
OMIM:232300 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Fatigue, Fever, Acute myeloid leukemia, Anemic pallor... |
ORPHA:86839 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Mildly elevated creat... |
OMIM:610542 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Dystonia, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Opistho... |
OMIM:616672 |
Microcephaly, Amish Type |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion cont... |
OMIM:607196 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Aicardi-Goutieres Syndrome 7 |
|
Hypertonia, Generalized hypotonia, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Pericardial... |
OMIM:615846 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Hypotonia, Metabolic acidosis, Organic aciduria, Temperature instability, Limb hype... |
ORPHA:99742 |
Congenital Myopathy 24 |
|
Waddling gait, Reduced vital capacity, Scapular winging, Facial palsy, Cardiomyopathy, Abnormal c... |
OMIM:617336 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:616781 |
Glycogen Storage Disease 0, Liver |
|
Increased serum lactate, Seizure, Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypo... |
OMIM:240600 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Cerebral atrophy, Pigmentary re... |
OMIM:268020 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Hypokalemic metabolic alkalosis, Elevated hepatic transaminase, Renal insu... |
ORPHA:36426 |
X-Linked Agammaglobulinemia |
|
Fatigue, Recurrent cutaneous abscess formation, Short stature, Cellulitis, Thrombocytopenia, Hepa... |
ORPHA:47 |
Sweet Syndrome |
|
Acute myeloid leukemia, Myositis, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Pyoderma ga... |
ORPHA:3243 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter... |
OMIM:125250 |
Waldenström Macroglobulinemia |
|
Fatigue, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Fever, Epistaxis, Normoc... |
ORPHA:33226 |
Mixed Connective Tissue Disease |
|
Fatigue, Hepatomegaly, Myositis, Pericarditis, Gastrointestinal hemorrhage, Fever, Hemolytic anem... |
ORPHA:809 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Abnormal chorioretinal morphology, Chorioretin... |
ORPHA:5 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,... |
OMIM:619991 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Facial palsy, Elevated circulating creatine kinase concentration... |
ORPHA:353327 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Cerebellar vermis hypoplasia, Ata... |
OMIM:216360 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Chronic metabolic acidosis, Reduced glutathione synthetase level |
ORPHA:32 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Myopathy, Lateral ve... |
OMIM:616816 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:177735 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Apnea, Ataxia, Tremor, Oculomotor apraxia, Sei... |
ORPHA:220497 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Arthralgia, Nephropathy... |
ORPHA:324 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Abdominal pain, Splenomegaly, Thrombocytopenia, Neutropenia, H... |
ORPHA:79312 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Resp... |
OMIM:620285 |
Central Core Disease |
|
Neonatal respiratory distress, Multiple joint contractures, Elevated circulating creatine kinase ... |
ORPHA:597 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Left ventricular hypertrophy, Elevated ci... |
OMIM:300280 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise intolerance, Hypertriglyceridemia, Prolonge... |
OMIM:613327 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Arthrogryposis multiplex congenita, Self-injurious behavior, Abnormal repetitive mannerisms, Intr... |
OMIM:615282 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum, Hemiplegia... |
ORPHA:1496 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Increased serum lactate, Focal-onset sei... |
ORPHA:438114 |
Neurodegeneration Due To 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Infantile spasms, Increased serum lactate, Head titubation, Tetralogy of Fallot, Respir... |
ORPHA:88639 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Neutropenia, Hepatosplenomegaly, Acute lym... |
ORPHA:158057 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity |
OMIM:616494 |
Glucose/Galactose Malabsorption |
|
Metabolic acidosis, Failure to thrive, Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Iron deficiency anemia, Abnormality of the liver, Hypoalbuminemia, Lymphoc... |
ORPHA:1667 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Hoffmann sign, Dysmetria, Ataxia, Abnormal circulating fatt... |
ORPHA:139396 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Organic aciduria, Elevated urinar... |
OMIM:253270 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Respiratory distress, Elevated hepatic transaminase, Failure to thrive, Hypogly... |
OMIM:617156 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Pediatric Hepatocellular Carcinoma |
|
Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Port... |
ORPHA:33402 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Ataxia, White hair, Ocular albinism, Abnormal brainstem morphology, Hypertonia, Ap... |
ORPHA:2720 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Cerebral atrophy... |
OMIM:613612 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Fatigue, Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Arthralgia, ... |
OMIM:120100 |
Abetalipoproteinemia |
|
Cardiomegaly, Impaired distal proprioception, Impaired proprioception, Dysmetria, Gait ataxia, St... |
ORPHA:14 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Myopathy, Aminoaciduria |
ORPHA:33574 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... |
ORPHA:596 |
Oculopharyngeal Muscular Dystrophy |
|
Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, Ragged-red ... |
ORPHA:270 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Insulin r... |
ORPHA:435660 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Short stature, Babinski sign, Cere... |
OMIM:616192 |
Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
OMIM:612933 |
Atypical Rett Syndrome |
|
Dystonia, Sudden episodic apnea, Episodic tachypnea, Involuntary movements, Impaired pain sensati... |
ORPHA:3095 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu... |
ORPHA:556955 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Hypotonia, Hepatosplenomegaly, Cardiomyopathy, Asci... |
OMIM:232500 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... |
OMIM:616840 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Decreased DLCO, Glycosuria, Aminoaciduria, Hypophosp... |
OMIM:618913 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion contracture, Oligosacch... |
ORPHA:365 |
Congenital Myopathy 13 |
|
Hypoxemia, Restrictive ventilatory defect, Increased intramyocellular lipid droplets, Hypercapnia |
OMIM:255995 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Cerebellar atrophy, Ataxia, Morning glory anomaly, Corpus callosum atrophy, Spastic paraplegia, O... |
ORPHA:98673 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Short stature, Bone marrow hypocellularity, Pallor, Neutropenia, Atria... |
OMIM:609053 |
Gitelman Syndrome |
|
Hypokalemic alkalosis, Ventricular tachycardia, Arthralgia, Increased circulating renin level, Re... |
OMIM:263800 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Supraventricular arrhythmia, Uns... |
ORPHA:420492 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Psoriasiform lesion, Hypercalcemi... |
ORPHA:284426 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia,... |
OMIM:213300 |
Reynolds Syndrome |
|
Fatigue, Hepatomegaly, Fever, Telangiectasia of the skin, Jaundice, Skin ulcer, Myalgia, Cirrhosi... |
ORPHA:779 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Fatigue, Skeletal muscle atrophy, Gastrointestinal hemorrhage, Hypotonia, Mitral valve prolapse, ... |
ORPHA:230839 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Hypertonia, Optic atrophy |
ORPHA:141 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Generalized non-motor (absence) seizure, Gait ata... |
OMIM:617831 |
Dent Disease 2 |
|
Short stature, Elevated circulating aspartate aminotransferase concentration, Elevated circulatin... |
OMIM:300555 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Abnormality of the liver, Optic atrophy, Short stature |
ORPHA:44 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Facial hypotonia, Elevated c... |
ORPHA:308552 |
Classic Hodgkin Lymphoma |
|
Fatigue, Hepatomegaly, Anorexia, Splenomegaly, Bone pain, Weight loss, Chest pain, Bone marrow hy... |
ORPHA:391 |
Congenital Myopathy 15 |
|
Waddling gait, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Vocal cord pa... |
OMIM:620161 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Short stature, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Pi... |
OMIM:610651 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue, Lower limb spasticity, Urinary urgency, Lower limb muscle weakness, Spastic gait, Progre... |
ORPHA:171612 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
Charcot-Marie-Tooth Disease And Deafness |
|
Thenar muscle atrophy, Tremor, Thenar muscle weakness, Distal sensory impairment, Axonal loss, St... |
OMIM:118300 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Fatigue, Gastrointestinal hemorrhage, Myocard... |
ORPHA:3452 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Epileptic spasm, Optic atrophy, Abnormal thalamic MRI sign... |
ORPHA:485421 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Febrile seizure (within the age range of 3 months to 6 years), Ataxia, Bil... |
OMIM:612736 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Postnatal growth retardation, Flexion contracture, Elevated circulating creatinine concentration,... |
OMIM:616733 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Hypotonia, Proximal renal tubular acidosis, Lactic acidosis, Metabolic a... |
OMIM:615824 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... |
ORPHA:340 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Increased serum ... |
OMIM:619418 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Increased serum pyruvate, Chorea, Increased serum lactate |
OMIM:614055 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Short stature |
ORPHA:3085 |
Erythrocytosis, Familial, 1 |
|
Fatigue, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increase... |
OMIM:133100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Respiratory in... |
OMIM:608423 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Congestive heart failure, Flexion contracture, Neutropen... |
OMIM:617303 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Perip... |
OMIM:606002 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... |
ORPHA:157 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Cerebellar v... |
OMIM:617988 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Flexion contracture, Focal tonic s... |
OMIM:617106 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Cardiomyopathy, Tetraparesis, ... |
ORPHA:27 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Fatigue, Fever, Splenomegaly, Night sweats |
ORPHA:545 |
Pericardial And Diaphragmatic Defect |
|
Neonatal respiratory distress, Bicuspid aortic valve, Abnormal heart morphology, Hypoxemia, Atria... |
ORPHA:2847 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:618637 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Increased serum lactate, Hypotonia, Spastic tetraplegia, Lactic acidosis, Hypertrophic cardiomyop... |
OMIM:614462 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Renal salt wastin... |
ORPHA:95409 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Joint contracture, Failure to thrive, Abnormal repetitive mannerisms, Cerebral atrophy |
OMIM:617393 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Hyperphosphaturia, Bone pain, Growth delay, Iron deficiency anemia, Elevated circulating... |
ORPHA:89937 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle,... |
OMIM:618161 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Apnea, Tachypnea, Seizure, Molar tooth sign on MRI, Superior cerebellar dyspl... |
OMIM:617622 |
Adrenomyodystrophy |
|
Short stature, Megacystis, Hypotonia, Myopathy, Abnormality of the urinary system, Hepatic steatosis |
ORPHA:977 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro... |
ORPHA:254875 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:102 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Growth delay, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... |
ORPHA:227510 |
Letterer-Siwe Disease |
|
Fever, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Anemia |
OMIM:246400 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Short stature, Ataxia, Postnatal growth retardation, Optic atrophy,... |
ORPHA:96180 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating creatine kinase concentration, Glycog... |
OMIM:300559 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal... |
OMIM:620351 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Melanocytic nevus, Hypertension |
ORPHA:2801 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Cerebellar vermis hypoplasia, Ankle flexion contracture, Respiratory insufficiency due to muscle ... |
OMIM:619461 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Akinesia, Optic a... |
OMIM:618249 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Acute pancreatitis, Proteinuri... |
ORPHA:79086 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Increased serum lactate, Lactic acidosis, Generalized hypotonia, Dystonia, Pancre... |
OMIM:618230 |
Glutaric Acidemia Type 3 |
|
Ketonuria, Ketoacidosis, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated cir... |
ORPHA:35706 |
Rhombencephalosynapsis |
|
Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Ataxi... |
ORPHA:59315 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Postpoliomyelitis Syndrome |
|
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Pain |
ORPHA:2942 |
Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Chronic fatigue, Anorexia, Weight loss |
ORPHA:100083 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Gener... |
ORPHA:171 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Fatigue, Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Cerebral ischemia... |
ORPHA:927 |
Chronic Bilirubin Encephalopathy |
|
Central apnea, Cerebral palsy, Abnormal thalamic MRI signal intensity, Seizure, Hypertonia, Hypoa... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Central apnea, Cerebral palsy, Abnormal thalamic MRI signal intensity, Seizure, Hypertonia, Hypoa... |
ORPHA:529799 |
Mast Cell Sarcoma |
|
Fatigue, Hepatomegaly, Splenomegaly, Weight loss, Mastocytosis |
ORPHA:66661 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Ataxia, Facial palsy, Foot joint contracture, Achilles tendon co... |
ORPHA:456312 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Generalized non-motor (absence) seizure, Highly eleva... |
OMIM:618992 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait... |
ORPHA:95433 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Ataxia, Vestibular areflexia, Abnormal cardiovascular system... |
ORPHA:886 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Dec... |
OMIM:232220 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Acidosis, Muscular dystrophy, Severe short stature |
OMIM:204730 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Hemoglobinuria, Cholecysti... |
OMIM:611881 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Tremor |
OMIM:616269 |
Alg9-Cdg |
|
Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal ... |
ORPHA:79328 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Short stature, Dilated cardiomyopathy, Leukopenia, Hepatic fibrosi... |
OMIM:613989 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mus... |
ORPHA:209335 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Hypoplasia of the pons, Optic atro... |
OMIM:613154 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Organic aciduria |
OMIM:612718 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Abnormal circulating enzyme concentration or a... |
ORPHA:79101 |
Meningococcal Meningitis |
|
Shock, Fever, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypothe... |
ORPHA:33475 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
Proximal Spinal Muscular Atrophy |
|
Fatigue, Skeletal muscle atrophy, Atrial septal defect, Multiple joint contractures, Quadriceps m... |
ORPHA:70 |
Joubert Syndrome 2 |
|
Central apnea, Neonatal breathing dysregulation, Renal insufficiency, Agenesis of cerebellar verm... |
OMIM:608091 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... |
ORPHA:101076 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Increased serum lactate, Tremor, Rigidity, Myoclonic seizu... |
OMIM:617186 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Skin ulcer, Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis, Chills |
ORPHA:86884 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decre... |
ORPHA:2388 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Severe short stature, Elevated... |
OMIM:617253 |
Liddle Syndrome |
|
Fatigue, Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Scorpion Envenomation |
|
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Promin... |
ORPHA:466677 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Hyponatremia, Renal insufficiency, Fatigue, Fever, Elevated circul... |
ORPHA:247353 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Splenomegaly, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia, Reduced hapto... |
OMIM:612126 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Respiratory insuffi... |
ORPHA:600 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Babinski sign, Optic atrophy, Spasticity, Cardiomyopathy, Decreased liver func... |
OMIM:618437 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620126 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Hyperlipidemia, ... |
ORPHA:444490 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Growth ... |
OMIM:253250 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Increased serum lactate, Dyspnea, Renal tubular dysfunction, Exertional ... |
OMIM:616539 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lactic acidosis, Hypotonia, Generalized hypotonia |
OMIM:608782 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Increased serum lactate, Dysplastic corpus callosum, ... |
OMIM:618810 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Dextrocardia, Retinal dystrophy, Ataxia, Tre... |
ORPHA:220493 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode... |
OMIM:245200 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Hypoxemia, Sclerosing cholangitis, Cirr... |
OMIM:308230 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... |
OMIM:607855 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Refsum Disease, Classic |
|
Somatic sensory dysfunction, Ataxia, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrh... |
OMIM:266500 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Back pain, Fatigue, Shoulder pain, Proteinuria, Hemolytic anemia, ... |
ORPHA:244242 |
Typical Nemaline Myopathy |
|
Waddling gait, Elevated circulating creatine kinase concentration, Facial palsy, Limb-girdle musc... |
ORPHA:171436 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, El... |
OMIM:616433 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Respiratory ... |
ORPHA:486815 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Lactic acidosis, Hepatic steatosis, Tubulointerstitial f... |
ORPHA:79259 |
Succinic Acidemia |
|
Respiratory distress, Lactic acidosis |
OMIM:600335 |
Osteopetrosis, Autosomal Dominant 3 |
|
Fatigue, Hepatomegaly, Splenomegaly, Asthenia, Anemia |
OMIM:618107 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Urinary incontinence, Larg... |
ORPHA:169189 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Increased serum lactate, Choreoathetosis, Lower limb ... |
ORPHA:319514 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Stress/infection-induced lactic acidosis, Abnormal circulating carnitine concentration, Decreased... |
ORPHA:431361 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Cerebellar vermis hypoplasia, Short stature, Abnormal cerebe... |
ORPHA:2510 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:620125 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Clonus, Cardiomegaly, Recurrent pneumonia, Tetraplegia, Oligosacchariduria, Seizure, Cerebellar h... |
ORPHA:3137 |
Castleman Disease |
|
Fatigue, Renal insufficiency, Abdominal mass, Elevated circulating C-reactive protein concentrati... |
ORPHA:160 |
Yellow Fever |
|
Anuria, Elevated circulating creatine kinase concentration, Arthralgia, Chills, Internal hemorrha... |
ORPHA:99829 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608636 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Tremor, Inab... |
OMIM:128100 |
Glutathionuria |
|
Urinary incontinence, Tremor, Asthma, Reduced gamma-glutamyltransferase level, Dysdiadochokinesis... |
OMIM:231950 |
Autoerythrocyte Sensitization Syndrome |
|
Fatigue, Gastrointestinal hemorrhage, Fever, Thrombocytosis, Epistaxis, Autoimmune thrombocytopen... |
ORPHA:324636 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Corpus callosum atrophy, Tremor, Impaired distal vibration sensation, Babinski sig... |
OMIM:616586 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Hypopigmentation of hair, Telangiectasia of the skin, Short statur... |
ORPHA:100 |
Congenital Myopathy 18 |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, F... |
OMIM:620246 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... |
ORPHA:363722 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Tiglic Acidemia |
|
Aminoaciduria, Acidosis, Episodic abdominal pain |
OMIM:275190 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Chronic fatigue, Short stature, Elevated circulating C-reactive protein conc... |
OMIM:191900 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea, Oculomotor apraxia, Stage 5 chronic kidney disease, Seizure, Molar too... |
OMIM:612285 |
Isovaleric Acidemia |
|
Pancytopenia, Ketoacidosis, Cerebellar hemorrhage, Hyperglycinuria, Metabolic acidosis, Leukopeni... |
OMIM:243500 |
Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Kearns-Sayre Syndrome |
|
Short stature, Ataxia, Cardiomyopathy, Pigmentary retinopathy, Third degree atrioventricular bloc... |
OMIM:530000 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hepa... |
ORPHA:79085 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Cardiomegaly, Tremor, Amyloid deposition in the vitreous hu... |
OMIM:105210 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, A... |
ORPHA:258 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Abnormal muscle fiber morphology, Abnormal heart morphology, Seizure, Camptodactyly ... |
OMIM:175700 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Axonal loss, Hepatomegaly, Micronodular cirrhosis, Athe... |
ORPHA:404454 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Abdominal pain, Ja... |
ORPHA:469 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Nocturia, Increased blood urea nitrogen, Seizure, Hy... |
OMIM:223360 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Rh Deficiency Syndrome |
|
Jaundice, Tachypnea, Hepatosplenomegaly, Hypoxemia, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... |
OMIM:619911 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:98933 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Ataxia, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Myoclonus |
OMIM:560000 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Liver abscess, Epistaxis, Dyspnea, Hypoxemia, Pleural empyema, Bacterial endocarditis, ... |
ORPHA:2038 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Fatigue, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, ... |
ORPHA:29072 |
Papa Syndrome |
|
Fatigue, Fever, Myositis, Proteinuria, Skin ulcer, Arthralgia |
ORPHA:69126 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Metabolic acidosis, Hypokalemia, Hyperaldosteronism, Decreased circulat... |
OMIM:613677 |
Lactase Deficiency, Congenital |
|
Metabolic acidosis, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Seizure, Slender build |
OMIM:613662 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Combined Oxidative Phosphorylation Deficiency 48 |
|
Increased serum lactate, Lactic acidosis, Failure to thrive |
OMIM:619012 |
Histiocytoid Cardiomyopathy |
|
Exercise intolerance, Hepatomegaly, Wolff-Parkinson-White syndrome, Atrial flutter, Ventricular s... |
ORPHA:137675 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Decreased sensitivity to hypoxemia, Increased bloo... |
OMIM:223900 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Congestive ... |
ORPHA:31824 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Raynaud phenomenon, Arterial... |
OMIM:259900 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Fatigue, Short stature, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemoglobin |
ORPHA:98791 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Ventricular septal defect, Involuntary movements, Bilateral tonic-c... |
OMIM:618325 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Ketoacidosis, Re... |
OMIM:618856 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Cronkhite-Canada Syndrome |
|
Fatigue, Hepatomegaly, Cachexia, Abdominal pain, Anorexia, Splenomegaly, Anemia |
ORPHA:2930 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Crackles, Cylindruria, Macroscopi... |
OMIM:233450 |
Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Genetic Hyperferritinemia Without Iron Overload |
|
Fatigue, Increased circulating ferritin concentration, Abnormal serum iron concentration, Arthral... |
ORPHA:254704 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypoplasia of penis, Cardiac arrest, Hypothermia, Growth delay, Arrhythmia |
ORPHA:168593 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Lower limb spasticity, Ata... |
OMIM:617193 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:95513 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Apnea, Large for gestational age, Multiple pancreatic beta-cell adenomas, Decreased ci... |
ORPHA:79644 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Lactic acidosis, Hyperammonemia |
OMIM:614111 |
Diprosopus |
|
Abnormality of retinal pigmentation, Abnormal cardiac septum morphology |
ORPHA:1681 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hypospadias, Hyperlipidemia, Hypotonia, Mitral r... |
ORPHA:254346 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Hawkinsinuria |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Metabolic acid... |
OMIM:140350 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms |
OMIM:606053 |
Cerebral Visual Impairment |
|
Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematur... |
ORPHA:447788 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Apnea, Ataxia, Facial hypotonia, Parkinsonism, Tremor, Flexion contract... |
OMIM:300055 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hyperchloremic metabo... |
ORPHA:3337 |
Pulmonary Hypertension, Primary, 5 |
|
Fatigue, Right ventricular hypertrophy |
OMIM:265400 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Metabolic acidosis, Decreased serum bicarbonate concentration, Hyperchloremia, Hype... |
OMIM:614492 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Giant Cell Arteritis |
|
Fatigue, Fever, Renal insufficiency, Pericarditis, Epistaxis, Sudden cardiac death, Abdominal pai... |
ORPHA:397 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Jeune Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the liver, Short stature |
ORPHA:474 |
Joubert Syndrome 18 |
|
Agenesis of cerebellar vermis, Ventricular septal defect, Renal cyst, Horseshoe kidney, Camptodac... |
OMIM:614815 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Pulmonary embolism, Dysp... |
ORPHA:447 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Seizure, Increased ... |
ORPHA:397744 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Short stature, Elevated circulating crea... |
OMIM:619743 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, G... |
OMIM:618877 |
Joubert Syndrome 16 |
|
Oculomotor apraxia, Retinal dystrophy, Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage |
OMIM:300845 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Chori... |
ORPHA:163961 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:95512 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Bone pain, Arthralgia, Fatigue, Hepatomega... |
ORPHA:355 |
Gaucher Disease Type 3 |
|
Fatigue, Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology,... |
ORPHA:77261 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Hyperammonemia, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Centrally nucleated skeletal muscle fibers, Tremor, Impaired temperature sensation, Impaired pain... |
OMIM:619574 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Corticosteroid-Binding Globulin Deficiency |
|
Fatigue, Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokal... |
OMIM:611489 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Cap Myopathy |
|
Facial palsy, Central hypoventilation, Abnormal muscle fiber morphology, Lower limb amyotrophy, M... |
ORPHA:171881 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Sialidosis Type 1 |
|
Short stature, Ataxia, Decreased nerve conduction velocity, Tremor, Splenomegaly, Slurred speech,... |
ORPHA:812 |
Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Small for gestational age, Aggressive behavior, Failure to thrive, Abnormal repeti... |
OMIM:609425 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue, Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Fatigue, Decreased circulating cortisol level, Orthostatic hypotension, Normocytic ... |
ORPHA:199299 |
Developmental And Epileptic Encephalopathy 95 |
|
Cerebellar atrophy, Hepatomegaly, Multiple joint contractures, Ataxia, Multifocal seizures, Bilat... |
OMIM:618143 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Dysphagia, Atypical scarrin... |
ORPHA:89842 |
Systemic Capillary Leak Syndrome |
|
Fatigue, Pericarditis, Renal insufficiency, Abdominal pain, Myocarditis, Leukocytosis, Oliguria, ... |
ORPHA:188 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Truncal ataxia |
OMIM:617761 |
Acute Monoblastic/Monocytic Leukemia |
|
Fatigue, Fever, Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Rett Syndrome |
|
Increased serum pyruvate, Skeletal muscle atrophy, Limb apraxia, Increased serum lactate, Inabili... |
ORPHA:778 |
Gamma-Heavy Chain Disease |
|
Fatigue, Hepatomegaly, Fever, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomeg... |
ORPHA:100026 |
Familial Focal Epilepsy With Variable Foci |
|
Pain, Pallor |
ORPHA:98820 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Periodic hyperkalemic paralysis, Short stature, Bidirectional ventricular ... |
ORPHA:37553 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Ventricular septal defect, Short stature, Anemic pallor,... |
OMIM:227645 |
Vici Syndrome |
|
Atrial septal defect, Lymphopenia, Elevated circulating creatine kinase concentration, Postnatal ... |
OMIM:242840 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Abnormal muscle fiber morphology, Paralysis, Respiratory paralysis, Increas... |
ORPHA:681 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Increased muscle lipi... |
ORPHA:565612 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Tremor, Inability to walk, Flexion contrac... |
OMIM:218000 |
Hereditary Elliptocytosis |
|
Fever, Hemolytic anemia, Reticulocytosis, Abdominal pain, Postnatal growth retardation, Splenomeg... |
ORPHA:288 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:601846 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Elevated circulating alpha-fe... |
OMIM:616267 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Facial palsy, Hypotonia, Organic aciduria, Generalized amyotrophy, Generalized hypotonia, Limb mu... |
OMIM:614707 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activ... |
OMIM:268800 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypospadias, Small for gestational age, Increased serum lactate, Respiratory insufficiency, Hyper... |
OMIM:614052 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pericardial effusion, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressur... |
ORPHA:199241 |
Joubert Syndrome 17 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Abnormal retinal morphology |
OMIM:614615 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Neurofibrillary tangles, Splenomegaly, Gait... |
OMIM:257220 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Rigidity, Optic atrophy, Spastic tetraplegia, Chiari type I malformation, Neurodegenerati... |
OMIM:618476 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Anterior hypopituitarism, Abnormal midbrain morphology, Rhombencephalosyn... |
ORPHA:280195 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Short stature, Anemic pallor, Thrombocytopenia, Reticulo... |
OMIM:600901 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bra... |
OMIM:261640 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Back pain, Elevated urinary catecholamine level, Pancreatic islet cell ... |
ORPHA:892 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Renal agenesis, Renal hypoplasia/aplasia... |
ORPHA:2754 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Ey... |
OMIM:616421 |
Methanol Poisoning |
|
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Hyperlipidemia, Permanent atrial fibr... |
ORPHA:31825 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Agenesis of corpus callosum, Intrahepatic biliary dysgenesis, Hepatomegaly,... |
OMIM:614866 |
Porphyria Variegata |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Proximal mu... |
ORPHA:79473 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Aregenerative Anemia |
|
Fatigue, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Pall... |
ORPHA:101096 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Centrally nucleated ... |
OMIM:616812 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Unclassified Myelodysplastic Syndrome |
|
Fatigue, Acute myeloid leukemia, Leukocytosis, Night sweats, Abnormal lactate dehydrogenase level |
ORPHA:98827 |
Joubert Syndrome 40 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Menkes Disease |
|
Fatigue, Gastrointestinal hemorrhage, Hypothermia, Aplasia/Hypoplasia of the abdominal wall muscu... |
ORPHA:565 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Hypertonia, Short stature, Retinal fold |
OMIM:108145 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Christianson Syndrome |
|
Cerebellar atrophy, Decreased muscle mass, Cachexia, Inappropriate laughter, Dysphagia, Arthrogry... |
ORPHA:85278 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Polyarteritis Nodosa |
|
Fever, Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentra... |
ORPHA:767 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Ramon Syndrome |
|
Abnormality of retinal pigmentation, Telangiectasia of the skin |
ORPHA:3019 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617049 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Con... |
ORPHA:3077 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Methioninuria, Hyperhomocystinemia, Mitral valve prolapse, Hypermethioninemia,... |
OMIM:236200 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Klatskin Tumor |
|
Fatigue, Hepatomegaly, Cholangiocarcinoma, Fever, Abdominal pain, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventri... |
ORPHA:280365 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar... |
OMIM:618598 |
Gaisböck Syndrome |
|
Fatigue, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia,... |
ORPHA:90041 |
Thyroid Hypoplasia |
|
Fatigue, Short stature, Jaundice, Hypotonia, Growth delay, Macroglossia |
ORPHA:95720 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Axial hypotonia, Reticulocytosis, Anisoc... |
OMIM:618278 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Axial hypotonia, Short stature, Splenomegaly,... |
OMIM:225750 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Muscle hemorrhage, ... |
ORPHA:464321 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Cerebral cortical neurodegeneration, Hypertonia, Hypoventilation, Hepatome... |
OMIM:203700 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Increased serum... |
ORPHA:663 |
Familial Cold Urticaria |
|
Fatigue, Fever, Abdominal pain, Erythema, Arthralgia, Myalgia |
ORPHA:47045 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Cerebellar atrophy, Facial hypotonia, Short stature, Overweight, Abnormal repetitive mannerisms, ... |
ORPHA:280763 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Fatigue, Decreased circulating cortisol level, Hyperkalemia, Hepatitis, Hypotension... |
ORPHA:199296 |
Amyotrophic Lateral Sclerosis |
|
Fatigue, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Neurodegen... |
ORPHA:803 |
Mitochondrial Myopathy, Lethal, Infantile |
|
Lactic acidosis, Myopathy |
OMIM:551000 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Centrally nucleate... |
OMIM:617072 |
Chédiak-Higashi Syndrome |
|
Tremor, Large clumps of pigment irregularly distributed along hair shaft, Hypopigmentation of the... |
ORPHA:167 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Jaundice, Inc... |
OMIM:232800 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Fatigue, Gastrointesti... |
ORPHA:537 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Cerebellar vermis hypoplasia, Apnea, Tachypnea, Abnormal optic disc morphology, Molar tooth sign ... |
ORPHA:397715 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoventilation, Hypoglycemia, Elbow contracture, Increased serum lactate, Rigidity, Clonic seizu... |
OMIM:620275 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Ataxia, Hypoglycemi... |
ORPHA:2609 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Increased serum lactate, Skeletal muscle atrophy, Choreoathetosis, Dystonia |
OMIM:614932 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hepatomegaly, Hyperactivity, Short stature, Aggressive behavior, Bruxism, Brain atrophy, Decrease... |
OMIM:618342 |
Analbuminemia |
|
Fatigue, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration,... |
OMIM:616000 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Cerebellar atrophy, Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral atrophy |
OMIM:619690 |
Foxg1 Syndrome |
|
Short stature, Bruxism, Severe postnatal growth retardation, Decreased body weight, Abnormal repe... |
ORPHA:561854 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased serum lactate, Babinski sign, Lacticaciduria, Bradykinesia, Hyperglycinemia |
OMIM:619063 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Hypotonia, Myopathy, Cardiomyopathy, Ethylmalonic aciduria, Weakness of faci... |
OMIM:201470 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Tremor, Focal-onset seizure, Gait ... |
OMIM:619092 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Lactic acidosis, Seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Decreased b... |
ORPHA:255138 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Short stature, Anemic pallor, Thrombocytopenia, Reticulo... |
OMIM:227650 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Fatigue, Fever, Anuria, Hemolytic anemia, Abdominal pain, Myocarditis, Leukocytosis... |
ORPHA:544482 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Hypothermia, Hypotonia, Macroglossia, Bradycardia, Pro... |
ORPHA:90673 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Bilateral tonic-clonic seizure, Elevated circulating creatine kinase concen... |
OMIM:618733 |
Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Metabolic acidosis, Renal tubular aci... |
ORPHA:79155 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Plummer-Vinson Syndrome |
|
Geophagia, Abdominal pain, Hypochromic microcytic anemia, Iron deficiency anemia, Pallor, Dysphagia |
ORPHA:54028 |
Lysinuric Protein Intolerance |
|
Skeletal muscle atrophy, Hepatomegaly, Hypolysinemia, Short stature, Increased serum lactate, Spl... |
OMIM:222700 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Intellectual Disability And Myopathy Syndrome |
|
Fatigue, Achilles tendon contracture, Left ventricular systolic dysfunction, Hypotonia |
OMIM:619719 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Hypothermia, Hypotonia, Macroglossia, Prolonged neonat... |
ORPHA:226316 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, Cholestasi... |
OMIM:619377 |
Kawasaki Disease |
|
Fatigue, Fever, Pericarditis, Abnormal heart valve morphology, Proteinuria, Abdominal pain, Myoca... |
ORPHA:2331 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Cerebral cortical atrophy |
OMIM:617820 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, Pallor, Neutropenia, Atrial septal defect, ... |
ORPHA:124 |
Polycythemia Vera |
|
Fatigue, Hepatomegaly, Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertensi... |
ORPHA:729 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Disinhibition, Dysphagia, Abnormal repeti... |
OMIM:612069 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... |
OMIM:168600 |
Joubert Syndrome 14 |
|
Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ventricular septal defect, Morning g... |
OMIM:614424 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Seizure, Difficulty walking, Febrile... |
ORPHA:477673 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Frequent temper ... |
OMIM:620141 |
Erythrocytosis, Familial, 2 |
|
Fatigue, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hema... |
OMIM:263400 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Increased serum lactate, Seizure, Cerebellar hypoplasia, Neonatal death, Arthrogryposis multiplex... |
OMIM:616342 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Axial hypotonia, Dicarboxylic aciduria, Elevated circulating aspartate aminotransfe... |
OMIM:614887 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Cerebellar vermis hypoplasia, Clonus, Hypoplasia of the pons, Tremor, Clonic sei... |
OMIM:615574 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Impaired glucose tolerance, Elevated circulati... |
OMIM:610131 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Chronic fatigue |
OMIM:234810 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Cyanosis, Skeletal muscle atrophy, Facial palsy, Triceps weakn... |
ORPHA:98913 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Neonatal respiratory distress, Motheaten muscle fibers, Muscular dystrophy, I... |
OMIM:226670 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... |
ORPHA:2326 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Fatigue, Arthralgia, Abdominal pain |
OMIM:615399 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Brain atrophy, F... |
OMIM:620327 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Small for gestational age, Failure to thrive in infancy, Short stature, Birth leng... |
OMIM:614104 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Respiratory distress, Cardiomegaly, Increased serum lactate, Pneumothorax, Ab... |
OMIM:620306 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue, Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopat... |
OMIM:241150 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hepatomegaly, Ataxia, Decreased nerve... |
OMIM:214500 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Portal hyperte... |
ORPHA:1454 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:300804 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Tricuspid regurgitation, Rod-cone dystrophy |
OMIM:600151 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypertonia, Hypoalbuminemia, Generalized hypotonia, Hyponatremia, Hepatomegaly, Hepat... |
OMIM:603553 |
Chronic Myeloid Leukemia |
|
Fatigue, Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative d... |
ORPHA:521 |
Houge-Janssens Syndrome 1 |
|
Fatigue, Congenital muscular torticollis, Facial hypotonia, Hypotonia, Generalized hypotonia, Int... |
OMIM:616355 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Short stature, Self hugging, Increased body weight, Head-ban... |
OMIM:182290 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R... |
OMIM:619518 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Urinary incontinence, Aggressive behavior, Inappropriate behavior, Disinhibition, N... |
OMIM:600795 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hepatic... |
ORPHA:435651 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms |
OMIM:617830 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Tempi Syndrome |
|
Hypoxemia, Transudative pleural effusion, Abnormality of the kidney |
ORPHA:284227 |
Alexander Disease |
|
Fatigue |
OMIM:203450 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cerebellar dysplasia, Elevated circulating creatine kinase concentration, Partial absence of cere... |
OMIM:613150 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Reduced level... |
OMIM:224120 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Short stature, Hypothermia, Elbow ... |
OMIM:618493 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Intermittent episodes of respiratory in... |
ORPHA:324604 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Primary Familial Polycythemia |
|
Fatigue, Abnormal hemoglobin, Epistaxis, Abdominal pain, Arthralgia, Polycythemia |
ORPHA:90042 |
Cockayne Syndrome |
|
Progressive gait ataxia, Retinal arteriolar constriction, Hypertonia, Retinal degeneration, Inten... |
ORPHA:191 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis, Hypotonia, Penile freckling |
ORPHA:210548 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy, Rod-cone dystrophy, Ataxia |
OMIM:614879 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Akinesia, Respiratory failure, Neonatal death, Increased variability in muscle fiber... |
OMIM:619334 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Petechiae, Splenomegaly... |
ORPHA:540 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Acidosis, Tachypnea, Abnormal blood i... |
ORPHA:173 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Short stature, Ataxia, Pancreatic fibrosis, Postnatal growth re... |
OMIM:616263 |
Dravet Syndrome |
|
Impulsivity, Obsessive-compulsive trait, Pallor, Global brain atrophy |
ORPHA:33069 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Peripheral axonal neuropathy, Spinal muscular atrophy, Secundum at... |
OMIM:616866 |
20Q11.2 Microdeletion Syndrome |
|
Brainstem dysplasia, Camptodactyly |
ORPHA:444051 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia... |
ORPHA:1020 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Ataxia, Hepatic steatosis |
OMIM:275630 |
Superficial Siderosis |
|
Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait ataxia, Inte... |
ORPHA:247245 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Severe short stature, Short stature, Abnormal h... |
OMIM:309900 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Abnormal brainstem morphology, Abnormal pons mor... |
ORPHA:370997 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstitia... |
ORPHA:797 |
Xeroderma Pigmentosum, Complementation Group F |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... |
OMIM:278760 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Neurofibrillary tangles, T... |
OMIM:601104 |
Serotonin Syndrome |
|
Fever, Tachycardia, Rigidity, Rhabdomyolysis, Lactic acidosis, Hypertension, Hypertonia, Hypotens... |
ORPHA:43116 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ventricular septal defect, Sho... |
OMIM:614947 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Gm1 Gangliosidosis |
|
Tremor, Decerebrate rigidity, Ganglioside accumulation, Cherry red spot of the macula, Short stat... |
ORPHA:354 |
Satoyoshi Syndrome |
|
Skeletal muscle hypertrophy, Fatigue, Short stature |
OMIM:600705 |
Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Cerebellar vermis hypoplasia, Bicuspid aortic valve, Generalized-onset seizure, Tremor, Partial a... |
OMIM:220111 |
Developmental And Epileptic Encephalopathy 46 |
|
Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Hyperglutamatemia, Cerebral palsy, Generalized dystonia, Spastic tetraparesis, In... |
OMIM:620358 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu... |
OMIM:618886 |
Galloway-Mowat Syndrome 6 |
|
Cerebellar atrophy, Short stature, Growth delay, Decreased body weight, Intrauterine growth retar... |
OMIM:618347 |
Hydranencephaly |
|
Dysgenesis of the thalamus, Optic nerve hypoplasia, Dilatation of the ventricular cavity, Thalami... |
ORPHA:2177 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Torticolli... |
OMIM:181405 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Fatigue, Elevated circulating C-reactive protein con... |
ORPHA:50918 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cerebellar vermis hypoplasia, Oculomotor apraxia, Obesity, Molar tooth sign on MRI,... |
OMIM:619185 |
Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Fetal pyelectasis, Insulin resistance, Obesity, Pulmonic stenosis, Comm... |
ORPHA:96168 |
Myelofibrosis |
|
Fever, Splenomegaly, Myeloproliferative disorder, Pallor, Purpura |
OMIM:254450 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Fatigue, Sudden cardiac death, Ebstein anomaly of the tricuspid ... |
ORPHA:1880 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies, Elevated circulating alkaline phosp... |
OMIM:615426 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia, Sudden death, Growth delay, Bradycardia, Partial development of the penile shaft |
OMIM:608800 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Cerebellar atrophy, Involuntary movements, Increased serum lactate, Flexion contracture, Babinski... |
OMIM:618397 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Thrombocytopenia, Hypotonia, Lactic acidosis, Aminoaciduria, Generalized hypotonia, Ne... |
OMIM:614520 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Cerebellar atrophy, Diffuse cerebral atrophy, Neurogenic bladder, ... |
ORPHA:263487 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Abnormal mitral valve morphology, Optic atrop... |
ORPHA:192 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Short stature, Oral-pharyngeal dysphagia, Abnormal repe... |
OMIM:610883 |
Adenosine Monophosphate Deaminase Deficiency |
|
Increased serum lactate, Elevated creatine kinase after exercise |
ORPHA:45 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Scapular winging, Ventricular septal defect, Aggressive behavior, Self-injurious behavio... |
OMIM:617061 |
Pontocerebellar Hypoplasia, Type 11 |
|
Skeletal muscle atrophy, Short stature, Self-injurious behavior, Attention deficit hyperactivity ... |
OMIM:617695 |
Myopathy, Myofibrillar, 8 |
|
Reduced vital capacity, Scapular winging, Elevated circulating creatine kinase concentration, Fre... |
OMIM:617258 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Abnormal repetitive mannerisms, Inappropriate laughter, Aggressive behavior, Bruxism |
OMIM:619150 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula... |
OMIM:619525 |
Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ... |
ORPHA:169186 |
Arterial Tortuosity Syndrome |
|
Fatigue, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Redundant skin, Myoca... |
ORPHA:3342 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Respiratory insufficiency, Proximal amyotr... |
OMIM:605355 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Hypocalcemia, Generalized hypotonia, Hepatic steatosis, Short stature, Portal hy... |
OMIM:613658 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Myocardial infarction, Tremor, Hyperkinetic movements, Gait disturbance, Upper lim... |
ORPHA:457240 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Clonus, Increased serum lactate, Tremor, Jaundice, Cerebral atrophy, Hypopnea, Seizure, Re... |
OMIM:617248 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Very long chain fatty acid ac... |
OMIM:261515 |
Pituitary Apoplexy |
|
Hyponatremia, Fatigue, Fever, Trigeminal neuralgia, Hypertension, Increased circulating cortisol ... |
ORPHA:95613 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Neurogenic bladder, Severe muscular hypotonia, Diastasis recti, Ventricu... |
ORPHA:488632 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Akinesia, Increased ser... |
OMIM:619147 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele... |
ORPHA:263297 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Renal hypoplasia/aplasia, Aplasia/Hypoplasi... |
ORPHA:2570 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Dextrocardia, Macular atrophy, ... |
OMIM:615994 |
Primary Biliary Cholangitis |
|
Fatigue, Abnormal circulating lipid concentration, Orthostatic hypotension, Portal hypertension, ... |
ORPHA:186 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Mitral regurgitation, ... |
ORPHA:261250 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc... |
OMIM:308990 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Metabolic acidosis, Hypoalbum... |
OMIM:618183 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Growth delay, Choreoathetosis, Gait dist... |
ORPHA:765 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Abnormal blood inorganic cation concentrat... |
ORPHA:309854 |
Achondroplasia |
|
Hypoxemia, Restrictive ventilatory defect, Obesity |
ORPHA:15 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Flexion contracture,... |
OMIM:310440 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achil... |
OMIM:310300 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria |
ORPHA:2089 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fatigue, Low back pain, Fever, Pelvic mass, Reduced C-peptide lev... |
ORPHA:2126 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Duplication Of The Pituitary Gland |
|
Lower limb spasticity, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnorma... |
ORPHA:314621 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Myopathy, Fatigue |
OMIM:613077 |
Brucellosis |
|
Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Arthralgia, Chills, Fatigue, Hepat... |
ORPHA:1304 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Tongue fascicul... |
OMIM:618823 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Orofaciodigital Syndrome Xvi |
|
Ataxia, Inability to walk, Oculomotor apraxia, Retinopathy, Molar tooth sign on MRI |
OMIM:617563 |
Granulomatosis With Polyangiitis |
|
Elevated circulating C-reactive protein concentration, Granulomatosis, Arthralgia, Fatigue, Glome... |
ORPHA:900 |
Nipah Virus Disease |
|
Fatigue, Fever, Myalgia, Hypotension |
ORPHA:99825 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Short stature, Diastasis recti, Portal hypertension, Flexion contracture, Hepati... |
ORPHA:440713 |
Lead Poisoning |
|
Fatigue, Small for gestational age, Anorexia, Abdominal pain, Imbalanced hemoglobin synthesis, Ab... |
ORPHA:330015 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Tricuspid regurgitation, Severe short stature, Chorioretinal... |
ORPHA:2556 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Ventricular septal defect, Splenomegaly, M... |
OMIM:606003 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Ataxia, Conjugated hyperbilirubinemia, Jaundice, Spastic paraplegia, Decreased thalamic volume, H... |
ORPHA:168577 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Abnormal repetitive mannerisms, Self-inju... |
OMIM:617044 |
Cyclic Neutropenia |
|
Fatigue, Cyclic neutropenia, Abdominal pain, Perianal abscess, Peritonitis, Bone pain, Cellulitis... |
ORPHA:2686 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Joubert Syndrome With Oculorenal Defect |
|
Renal insufficiency, Cerebellar vermis hypoplasia, Apnea, Ataxia, Tachypnea, Seizure, Molar tooth... |
ORPHA:2318 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Renal insufficiency, Elevated circulating creatine kinase concentration, El... |
ORPHA:228302 |
Kaposi Sarcoma |
|
Fatigue, Abnormality of the spleen, Abnormality of the liver, Fever |
ORPHA:33276 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Bronchiectasis, Hypercalciuria, Weight... |
OMIM:181000 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Tremor, Abnormality of skin pigmentation, Hepatomegaly, Retinal ... |
OMIM:216400 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevat... |
ORPHA:206572 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking... |
OMIM:600430 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... |
OMIM:617547 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... |
ORPHA:70594 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormality of temperature regulation, Abnormal pulmonary valve morphology, Splenom... |
ORPHA:667 |
Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
Autosomal Agammaglobulinemia |
|
Fatigue, Fever, Hepatitis, Neutropenia |
ORPHA:33110 |
Listeriosis |
|
Back pain, Liver abscess, Granulomatosis, Arthralgia, Cholecystitis, Chills, Fatigue, Abdominal p... |
ORPHA:533 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Lactic acidosis, Respiratory failure, Hydroureter, Hydronephrosis |
OMIM:618240 |
Mal De Débarquement |
|
Fatigue |
ORPHA:210272 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Brain atrophy, Bruxism, Abnormal repetitive mannerisms, P... |
OMIM:618718 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Brain atrophy |
OMIM:607131 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Ata... |
OMIM:615919 |
Tay-Sachs Disease |
|
GM2-ganglioside accumulation, Hypotonia, Hypertonia, Pallor, Generalized hypotonia |
OMIM:272800 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Pick Disease Of Brain |
|
Polyphagia, Disinhibition, Inappropriate laughter, Neuronal loss in central nervous system, Abnor... |
OMIM:172700 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Increased serum lactate, Metabolic acidosis, Respiratory... |
OMIM:618252 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Skeletal muscle atrophy, Ataxia, Increased serum lactate, Optic atrophy, Distal sensory impairmen... |
OMIM:613559 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hypoventilation, Cyanosis, Abnormal midbrain morphol... |
ORPHA:293987 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, GM2-ganglioside accumulati... |
OMIM:272750 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Elevated circulating creatine kinase concentration, Cardiomyopathy, Myofibri... |
OMIM:609452 |
Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, C... |
OMIM:307030 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Osteopetrosis With Renal Tubular Acidosis |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Pancytopenia, Short stature,... |
ORPHA:2785 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Hyperchloremic metabolic acidosis |
OMIM:610370 |
King-Denborough Syndrome |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:619542 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Rigidity, Hypotonia, Opisthotonus, Hypertonia, Pallor, Dystonia |
ORPHA:13 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Dermatomyositis |
|
Fatigue, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial inf... |
ORPHA:221 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu... |
ORPHA:590 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Chronic fatigue, Nor... |
ORPHA:91355 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Neurofibrillary tangles,... |
OMIM:609454 |
Acute Radiation Syndrome |
|
Fatigue, Fever, Skin ulcer, Telangiectasia, Scaling skin, Hypotension, Granulocytopenia, Lymphope... |
ORPHA:454831 |
Poliomyelitis |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypoplasia of the musculature, Anorexia, ... |
ORPHA:2912 |
Biotinidase Deficiency |
|
Hepatomegaly, Metabolic ketoacidosis, Splenomegaly, Hypotonia, Hyperammonemia, Organic aciduria, ... |
OMIM:253260 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Hypotonia, Lactic acidosis, Dystonia, Neonatal hypotonia |
OMIM:245348 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Hypotonia, Spa... |
ORPHA:349 |
Diarrhea 12, With Microvillus Atrophy |
|
Metabolic acidosis, Bronchiectasis |
OMIM:619445 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Chorea, Dysmetria, Myoclonic seizure, Chondroitin sulfate excretion in urin... |
OMIM:615273 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Hypospadias, Renal cyst, Seizure, Cerebellar hypoplasia, Camptodactyly,... |
OMIM:614175 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Fatigue, Gastrointestinal he... |
ORPHA:440437 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Short stature, Anemic pallor, Thrombocytopenia, Annular ... |
OMIM:227646 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Short stature, Bull's eye macul... |
OMIM:216550 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, C... |
OMIM:613530 |
Bone Marrow Failure Syndrome 6 |
|
Chronic fatigue, Persistence of hemoglobin F, Increased mean corpuscular volume, Myalgia, Bone ma... |
OMIM:618849 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency due to muscle wea... |
ORPHA:18 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal cerebral a... |
ORPHA:275864 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Elevated creatine kinase after exercise, ... |
ORPHA:57 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Short stature, Ataxia, Retinal telangiectasia, Postnatal growth retardation, Tremor, Optic atroph... |
OMIM:612199 |
Liposarcoma |
|
Fatigue, Abdominal pain |
ORPHA:69078 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdu... |
ORPHA:25 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Hypoventilation, Lactic acidosis, Breathing dysregulation |
OMIM:618232 |
Tricarboxylic Acid Cycle, Defect Of |
|
Persistent lactic acidosis |
OMIM:275370 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Respir... |
OMIM:255200 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... |
OMIM:619127 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil... |
OMIM:608907 |
Addison Disease |
|
Hyponatremia, Fatigue, Decreased circulating cortisol level, Orthostatic hypotension, Normocytic ... |
ORPHA:85138 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Fever, Liver abscess, Neutrophilia, Abnormality of the kidney, Ele... |
ORPHA:54251 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:97279 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Spastic paraplegia, Optic nerve dysplasia, Cerebral atro... |
OMIM:617296 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal... |
ORPHA:84081 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Short stature, Splenomegaly, Optic atrophy, Ab... |
ORPHA:585 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Fatigue, Granulomatous cholangitis, Cholestasis, Abnormal intrahep... |
ORPHA:562639 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Short stature, Congenital hypop... |
OMIM:105650 |
Spinal Arteriovenous Metameric Syndrome |
|
Fatigue, Gangrene, Arthralgia, Bone pain |
ORPHA:53721 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... |
OMIM:146500 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis, Tremor |
ORPHA:66633 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Abnormal repetitive m... |
OMIM:618067 |
3-Hydroxyisobutyric Aciduria |
|
Lactic acidosis, Intrauterine growth retardation |
ORPHA:939 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Purpura, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Opisthot... |
OMIM:608013 |
Hennekam-Beemer Syndrome |
|
Fatigue, Short stature, Camptodactyly of finger, Telangiectasia of the skin, Abdominal pain, Eryt... |
ORPHA:2135 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Phenformin 4-Hydroxylation |
|
Lactic acidosis |
OMIM:261590 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1259 |
Hyperlysinemia |
|
Tremor, Dysmetria, Cystinuria, Opisthotonus, Clumsiness, Seizure, Hypoornithinemia, Hyperlysinemi... |
ORPHA:2203 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... |
ORPHA:99956 |
Den Hoed-De Boer-Voisin Syndrome |
|
Tremor, Ataxia, Overweight, Obesity, Nocturnal seizures, Seizure, Upper limb spasticity, Myoclonu... |
OMIM:619229 |
Rheumatoid Arthritis |
|
Fatigue, Fever, Elevated circulating C-reactive protein concentration, Vasculitis, Digital flexor... |
OMIM:180300 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Fatigue, Pituitary dwarfism, Hypothermia, Hypotonia, Growth delay, Macroglossia, Bradycardia, Pro... |
ORPHA:226307 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Hepatoblastoma, Hemiplegia/hemiparesis, ... |
ORPHA:50 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Joubert Syndrome 39 |
|
Pain insensitivity, Cerebellar vermis hypoplasia, Retinal dystrophy, Hypoplastic left heart, Ocul... |
OMIM:619562 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Fatigue, Atrial septal defect, Aortic regurgitation, Tricuspid regurgitation, Abnormal heart valv... |
ORPHA:230851 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers, Elevated circulating creatine kinase concentration, Difficulty walking |
OMIM:619024 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Impaired vibratory sensation, Neurogenic bladder, Thenar muscle atr... |
OMIM:500013 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Nodular regenerative hyperplasia of ... |
ORPHA:247691 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Bilateral Polymicrogyria |
|
Cerebellar atrophy, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetrapares... |
ORPHA:268940 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... |
OMIM:207800 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue, Small for gestational age, Increased body weight, Attention deficit hyperactivity disorder |
OMIM:274300 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Abnormal midbrain morphology, Foot... |
ORPHA:444072 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
ORPHA:268 |
Immunodeficiency 31C |
|
Fatigue, Skeletal muscle atrophy, Hepatomegaly, Fever, Short stature, Impaired lymphocyte transfo... |
OMIM:614162 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Self-injurious behavior, Abnormal repetitive mannerisms, Hepatomegaly |
OMIM:615637 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dyston... |
OMIM:233910 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Erdheim-Chester Disease |
|
Fatigue, Fever, Renal insufficiency, Abnormal pericardium morphology, Dysuria, Abdominal pain, Re... |
ORPHA:35687 |
Chromosome Xp11.3 Deletion Syndrome |
|
Short stature, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal ... |
OMIM:300578 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Elevated hem... |
OMIM:210900 |
Fucosidosis |
|
Hepatomegaly, Short stature, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocy... |
OMIM:230000 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Supraventricular tachycardia, Foot dorsiflexor we... |
ORPHA:273 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Corpus callosum atrophy, Abnormal cerebellum morphology, Tremor, Babinski sign, Impaired vibratio... |
ORPHA:447753 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Congestive heart failure, Jaundice, Unsteady gait, Splenomegaly, Cereb... |
OMIM:615512 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation |
ORPHA:873 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Retinal dystrophy, Ataxia |
ORPHA:713 |
Congenital Macroglossia |
|
Macroglossia, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Abnormal repetitive mannerisms, Hyperactivity, Short stature, Aggressive behavior |
OMIM:615541 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Fasciculatio... |
ORPHA:324581 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Jaundice, Optic nerve dysplasia,... |
OMIM:214110 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Intermittent hypothermia, Oculogyric crisis, Blepharospasm, Hypoten... |
OMIM:608643 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Aspi... |
ORPHA:646 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Pallor, Atrial septal defect, Dia... |
OMIM:619488 |
Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraplegia, Spastic tetraplegia,... |
OMIM:612164 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Genera... |
OMIM:243800 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Short stature, Abnormal heart valve morphology, Hemiplegia/hemiparesis, Abnorm... |
ORPHA:1606 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Abnormal muscle fi... |
ORPHA:79102 |
Vexas Syndrome |
|
Fatigue, Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopen... |
OMIM:301054 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... |
OMIM:615422 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Fatigue, Pancreatic adenocarcinoma, Gastrointestinal hemorrhage, Abdomi... |
ORPHA:144 |
Malignant Atrophic Papulosis |
|
Fatigue, Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology... |
ORPHA:679 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Aggressive behavior, Self-biting, Growth delay, Hernia,... |
ORPHA:3306 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Fatigue, Fever, Neutrophilia, Elevated circulating C-reactive protein concentration... |
ORPHA:1930 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperin... |
OMIM:262190 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, Self-injurious behavior, Compulsive behaviors, Abnormal rep... |
OMIM:618917 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Flexion contracture of finger, Small for gestational age, Hypospadias, Unilate... |
ORPHA:464311 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Fatigue, Delayed puberty |
ORPHA:95619 |
Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Ataxia, Hypera... |
OMIM:209900 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Fatigue, Minimal change glomerulonephritis, Abdominal pain, Pulmonary embolism, Hyperlipidemia, C... |
ORPHA:567546 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Cranial nerve compression, Babinski sign, Vocal cord pa... |
ORPHA:268882 |
Craniofaciofrontodigital Syndrome |
|
Exercise intolerance, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic ... |
ORPHA:363705 |
Snakebite Envenomation |
|
Hyponatremia, Epistaxis, Paralysis, Rhabdomyolysis, Respiratory failure, Pseudobulbar paralysis, ... |
ORPHA:449285 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema, Hypotonia, Dystonia |
ORPHA:439218 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... |
ORPHA:95430 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Nephr... |
ORPHA:653 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Vasculitis, Bone pain, Weight loss, Anemia |
ORPHA:324964 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Chronic fatigue, Tricuspid stenosis, Right ventricular failure, Ar... |
ORPHA:100078 |
Paganini-Miozzo Syndrome |
|
Elevated lactate:pyruvate ratio, Urinary incontinence, Increased serum lactate, Lateral ventricle... |
OMIM:301025 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Fever, Liver abscess, Abnormal pericardium morphology, Abdominal p... |
ORPHA:67 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Cyanosis, Apnea, Hypoglycemia, Hyperkalemia |
OMIM:240200 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, ... |
OMIM:182410 |
Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Speech apraxia, Abnormal medulla oblongat... |
ORPHA:297 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Clonus, Abnormality of skin pigmentation, Hypertonia, Chorioretinal colobo... |
OMIM:619475 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Cardiomegaly, Hypertension, Death in childhood, Pulmonary arterial hypertension |
OMIM:613320 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive... |
ORPHA:2131 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Neuronal loss in c... |
ORPHA:683 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Cardiomegaly, Secundum atrial septal ... |
OMIM:300855 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Flank pain, Renal inter... |
ORPHA:91500 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Fatigue, Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular cal... |
OMIM:600740 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Remnants of the hyaloid vascular system, Facial palsy, Bilateral ves... |
ORPHA:637 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Fatigue, Recurrent urinary tract infections, Short stature, Bilateral camptodactyly, H... |
OMIM:619234 |
Fixed Drug Eruption |
|
Fatigue, Chills, Erythema, Fever |
ORPHA:293812 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Car... |
OMIM:616483 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Abnormal circulating enzyme concentration or activity, Neonatal respiratory... |
ORPHA:98915 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Alexander Disease |
|
Facial palsy, Sudden cardiac death, Bowel incontinence, Hypothermia, Hypotonia, Hypertension, Rec... |
ORPHA:58 |
Thymic Carcinoma |
|
Fatigue, Chest pain |
ORPHA:99868 |
Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Abnormal repetitive mannerisms |
ORPHA:98807 |
Pseudohypoaldosteronism, Type Iie |
|
Metabolic acidosis, Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614496 |
Coffin-Siris Syndrome 6 |
|
Short stature, Tics, Attention deficit hyperactivity disorder, Atrial septal defect, Diaphragmati... |
OMIM:617808 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor |
OMIM:117300 |
Congenital Short Bowel Syndrome |
|
Metabolic acidosis, Failure to thrive, Steatorrhea |
OMIM:615237 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Acidosis, Abnormal blood ion concentration, Abnormal tubulointerstitial morpho... |
ORPHA:411629 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Chronic Beryllium Disease |
|
Fatigue, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Flexion contracture, Nocturnal hypoventilation, Increased variability in muscle fib... |
OMIM:616470 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu... |
ORPHA:505248 |
Non-Functioning Pituitary Adenoma |
|
Fatigue, Anemia of inadequate production, Increased intraabdominal fat, Pallor, Hypotension |
ORPHA:91349 |
Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Ataxia, Chorioretinal degeneration, Postnatal growth retardati... |
ORPHA:1435 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Secundum atrial septal defect, Postnatal growth retardation, ... |
OMIM:620242 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Dilated card... |
ORPHA:79408 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Optic atrophy, Rod-con... |
OMIM:268315 |
Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Ataxia, Cerebellar calcifications, Abnormal peripheral myelin... |
OMIM:133540 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Fatigue, Dry skin, Growth delay, Prolonged neonatal jaundice, Abnormal circulating thyroglobulin ... |
ORPHA:99832 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Chronic fatigue, Hypercalcemia, Intrahepatic cholestasis,... |
ORPHA:97282 |
Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Small for gestational age, Abnormal cardiac ventricle morphology, ... |
ORPHA:284979 |
Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Glomerulopathy, Renal insufficiency, Generalized-onset seizure, Proteinuria, ... |
OMIM:254900 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Lyme Disease |
|
Fatigue, Fever, Atrioventricular block, Arthralgia, Myalgia, Arrhythmia |
ORPHA:91546 |
Semilobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Limb dystonia, Abnormal central motor function, Decreased response to growth hormo... |
ORPHA:93924 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Hepatomegal... |
ORPHA:394 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Hypotonia, Growth delay, Macroglossia, Br... |
OMIM:218700 |
Acute Intermittent Porphyria |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Renal insufficiency, Dark ur... |
ORPHA:79276 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Micropenis, Seizure, Hypoplasia of the brainstem, Cerebellar hypoplasia, Ki... |
OMIM:617822 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Pituitary hypothyroidis... |
OMIM:614963 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Splenomegaly, Thromb... |
OMIM:617591 |
Secondary Intestinal Lymphangiectasia |
|
Fatigue, Fever, Abdominal colic, Lymphopenia, Right ventricular failure, Reduced circulating tran... |
ORPHA:90363 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Elevated circulating creatine kinase concentration, Park... |
ORPHA:1320 |
Arachnoiditis |
|
Fatigue, Arthralgia |
ORPHA:137817 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Hepatomegaly, Ataxia, Cardiomegaly, Splenomegaly, Optic atrophy, Atrioventric... |
ORPHA:581 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory alkalosis, Oroticaciduria, Spastic parap... |
ORPHA:415 |
Bardet-Biedl Syndrome |
|
Hypertension, Hepatic fibrosis, Short stature, Pigmentary retinopathy |
ORPHA:110 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Elevated circulating aspartate... |
OMIM:214950 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Abdominal colic, Tachycardia, Fever, Abdominal pain, P... |
ORPHA:521219 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Pericardial ef... |
ORPHA:77259 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly... |
ORPHA:30391 |
Adiposis Dolorosa |
|
Fatigue, Telangiectasia of the skin, Obesity, Arthralgia, Dry skin |
ORPHA:36397 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Elevated lactate:pyruvate ratio, Overweight, Increased serum lactate, Optic atrophy, Obesity, Pul... |
OMIM:614651 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... |
ORPHA:168558 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Fever, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnorma... |
ORPHA:556037 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Arthralgia, Fatigue, Glomerulopathy, Abdomin... |
ORPHA:117 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Fever, Cardiac arrest,... |
ORPHA:139402 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiome... |
OMIM:616897 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Short stature, Aggressive behavior, Mitral valve prolapse, Self-injurious behavior, Compulsive be... |
OMIM:300986 |
Chromosome 18Q Deletion Syndrome |
|
Broad-based gait, Short stature, Absence of the pulmonary valve, Ventricular septal defect, Tremo... |
OMIM:601808 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the bra... |
OMIM:236670 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Lower limb spasticity, Hip contracture, Axial hypotonia, Hepatomega... |
OMIM:300868 |
Aromatase Deficiency |
|
Eunuchoid habitus, Enlarged polycystic ovaries, Hyperlipidemia, Insulin resistance, Obesity, Type... |
ORPHA:91 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Severe short stature, Abnormal heart valve morphology, Diastasis recti, Short statu... |
OMIM:253220 |
Beta-Ureidopropionase Deficiency |
|
Elevated circulating N-carbamyl-beta-alanine concentration, Increased serum lactate, Hypotonia, M... |
OMIM:613161 |
Congenital Analbuminemia |
|
Fatigue, Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Low pulse pressure, H... |
ORPHA:86816 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Cardiomegaly, Hypertonia, Micropenis, Extrapyramidal muscu... |
ORPHA:51 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Flexion contrac... |
OMIM:607014 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Intrauterine ... |
ORPHA:158687 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... |
ORPHA:289548 |
Xp21 Deletion Syndrome |
|
Decreased muscle mass, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, ... |
ORPHA:261476 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Chronic fatigue, Hypercalcem... |
ORPHA:97280 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Congenital stationary night blindness, Abnormal brainstem mo... |
ORPHA:8 |
Joubert Syndrome 5 |
|
Central apnea, Neonatal breathing dysregulation, Agenesis of cerebellar vermis, Ataxia, Episodic ... |
OMIM:610188 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Short stature, Optic nerve hypoplasia, Optic atrophy, Generalized hypopigmenta... |
OMIM:619321 |
Childhood Absence Epilepsy |
|
Pallor, Punding, Urinary incontinence, Attention deficit hyperactivity disorder |
ORPHA:64280 |
Postorgasmic Illness Syndrome |
|
Fatigue, Hypertension, Fever, Palpitations |
ORPHA:279947 |
Poems Syndrome |
|
Fatigue, Pain, Lipodystrophy, Pericardial effusion, Weight loss, Pulmonary arterial hypertension,... |
ORPHA:2905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Short stature, Ventricular septal defect, Ataxia, Tremor, Gait ataxia, Growth delay, Cerebellar h... |
OMIM:300998 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Myotonia Fluctuans |
|
Fatigue, Spasticity of facial muscles, Myalgia |
ORPHA:99734 |
Zygomycosis |
|
Neutropenia, Nephritis, Fatigue, Abdominal pain, Hepatitis, Hematochezia, Fever, Renal insufficie... |
ORPHA:73263 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Telangiectasia, Pigmentary retinopathy, Agenesis of corpus callosum, A... |
OMIM:612582 |
Glucocorticoid Resistance, Generalized |
|
Metabolic alkalosis, Hypertension, Increased circulating cortisol level, Fatigue |
OMIM:615962 |
Enteric Anendocrinosis |
|
Type I diabetes mellitus, Cholestatic liver disease, Hyperchloremic metabolic acidosis, Portal hy... |
ORPHA:83620 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Pancytopenia, Fatigue, Splenomegaly, Acute myelomonocytic ... |
ORPHA:86843 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Intrahepatic cholesta... |
ORPHA:69663 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Hyperactivity, Urinary incontinence, Aggressive behavior, Postnatal growth retardation, Abnormal ... |
OMIM:300912 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increas... |
OMIM:620278 |
Holoprosencephaly 7 |
|
Partial agenesis of the corpus callosum, Panhypopituitarism, Seizure, Hypoplasia of the brainstem... |
OMIM:610828 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Progressive Non-Fluent Aphasia |
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Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... |
ORPHA:100070 |
Angelman Syndrome |
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Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atrophy, Myoclonus,... |
ORPHA:72 |
Baker-Gordon Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:618218 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... |
OMIM:602782 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
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Fatigue, Myopathy, Abnormal dental enamel morphology, Skin vesicle |
ORPHA:257 |
Familial Glucocorticoid Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Chronic f... |
ORPHA:361 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Chronic fatigue, Hypercalcem... |
ORPHA:97283 |
Perry Syndrome |
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Hypoventilation, Central hypoventilation, Akinesia, Parkinsonism, Tremor, Rigidity, Respiratory i... |
OMIM:168605 |
Obesity, Hyperphagia, And Developmental Delay |
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Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi... |
OMIM:614736 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
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Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Arthrogryposis multiplex ... |
ORPHA:178148 |
Mitochondrial Dna Depletion Syndrome 19 |
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Hypospadias, Infantile spasms, Increased serum lactate, Focal-onset seizure, Myoclonus, Tetrapare... |
OMIM:618972 |
Alazami Syndrome |
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Abnormal eating behavior, Postnatal growth retardation, Atrial septal defect, Abnormal repetitive... |
ORPHA:319671 |
Early Infantile Epileptic Encephalopathy |
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Diffuse cerebral atrophy, Tremor, Choreoathetosis, Ureterocele, Micropenis, Seizure, Myoclonus, E... |
ORPHA:1934 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Skeletal muscle atrophy, Short stature, Secundum atrial septal defect, Cerebral atrophy, Inapprop... |
OMIM:615802 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Ventricular septal defect, Brus... |
OMIM:214100 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Inguinal hernia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Small thenar e... |
OMIM:618914 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di... |
OMIM:617600 |
Immunodeficiency 58 |
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Fatigue, Recurrent cutaneous abscess formation, Short stature, Psoriasiform lesion, Atrophic scar... |
OMIM:618131 |
Immunodeficiency 70 |
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Decreased proportion of CD4-positive helper T cells, Chronic fatigue, B lymphocytopenia |
OMIM:618969 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Short stature, Hypothermi... |
ORPHA:438213 |
Kanzaki Disease |
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Peripheral axonal neuropathy, Increased urinary O-linked sialopeptides, Axonal degeneration, Cere... |
OMIM:609242 |
Niemann-Pick Disease, Type C2 |
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Hepatomegaly, Ataxia, Neurofibrillary tangles, Splenomegaly, Jaundice, Prolonged neonatal jaundic... |
OMIM:607625 |
Williams Syndrome |
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Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Glioblastoma |
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Fatigue |
ORPHA:360 |
Cockayne Syndrome Type 3 |
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Elevated hepatic transaminase, Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, ... |
ORPHA:90324 |
Familial Pancreatic Carcinoma |
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Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Chronic fatigue, Anorexia, A... |
ORPHA:1333 |
Hydrolethalus Syndrome 2 |
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Molar tooth sign on MRI, Agenesis of corpus callosum |
OMIM:614120 |
Multiple Myeloma |
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Fatigue, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain, A... |
ORPHA:29073 |
Mucolipidosis Ii Alpha/Beta |
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Increased serum beta-hexosaminidase, Cardiomegaly, Generalized hypotonia, Hepatomegaly, Neonatal ... |
OMIM:252500 |
Renal Nutcracker Syndrome |
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Fatigue, Orthostatic hypotension, Tachycardia, Proteinuria, Abdominal pain, Flank pain, Hematuria... |
ORPHA:71273 |
Holocarboxylase Synthetase Deficiency |
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Hypotonia, Hyperammonemia, Growth delay, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
Lactic Acidosis, Chronic Adult Form |
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Hyperuricemia, Chronic lactic acidosis |
OMIM:150170 |
Argininosuccinic Aciduria |
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Hepatomegaly, Respiratory alkalosis, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:207900 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Retinal pigment epithelial mottling, Short stature |
OMIM:617102 |
Macs Syndrome |
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Fatigue, Short stature, Redundant skin, Cutis laxa, Decreased body weight, Umbilical hernia |
OMIM:613075 |
Pituicytoma |
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Fatigue |
ORPHA:251623 |
Smith-Lemli-Opitz Syndrome |
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Renal cyst, Hypertonia, Hypoalbuminemia, Generalized hypotonia, Hypocholesterolemia, Atrial septa... |
OMIM:270400 |
Septo-Optic Dysplasia Spectrum |
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Fatigue, Short stature, Obesity, Polydipsia, Dry skin |
ORPHA:3157 |
Bardet-Biedl Syndrome 6 |
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Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
Coffin-Siris Syndrome 7 |
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Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Severe temper tantrums, Short st... |
OMIM:618027 |
Viss Syndrome |
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Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse... |
OMIM:619472 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
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Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Umbilical hernia, Abnormal repet... |
OMIM:617751 |
Hardikar Syndrome |
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Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Autosomal Dominant Dopa-Responsive Dystonia |
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Fatigue, Torticollis, Generalized dystonia, Progressive flexion contractures, Rigidity, Focal dys... |
ORPHA:98808 |
Mucopolysaccharidosis Type 2 |
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Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Short stature, Abnormal heart val... |
ORPHA:580 |
Granulomatosis With Polyangiitis |
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Fatigue, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage, Weight ... |
OMIM:608710 |
Shukla-Vernon Syndrome |
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Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A... |
OMIM:301029 |
Heart Block, Congenital |
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Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Fatigue, Increased body weight, Hypertension, Increased circulating cortisol level, Abdominal obe... |
OMIM:615954 |
2Q23.1 Microdeletion Syndrome |
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Hyperactivity, Short stature, Polyphagia, Growth delay, Self-injurious behavior, Abnormal repetit... |
ORPHA:228402 |
Familial Aortic Dissection |
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Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Familial Cerebral Saccular Aneurysm |
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Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h... |
ORPHA:231160 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
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Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Neuronal loss in ce... |
OMIM:607485 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Retinal detachment, Abnormality of retinal pigmentation, Severe short stature, Retinal dystrophy,... |
ORPHA:2526 |
Congenital Disorder Of Glycosylation, Type Ij |
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Elevated hepatic transaminase, Apnea, Infantile spasms, Tremor, Jaundice, Flexion contracture, Re... |
OMIM:608093 |
Carney Triad |
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Fatigue, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Leiomyosarcoma, Hype... |
ORPHA:139411 |
White-Sutton Syndrome |
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Hyperactivity, Facial hypotonia, Short stature, Congenital diaphragmatic hernia, Aggressive behav... |
OMIM:616364 |
Laubry-Pezzi Syndrome |
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Fatigue, Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:99094 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Enhanced S-Cone Syndrome |
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Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Cohen Syndrome |
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Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Short st... |
ORPHA:193 |
Familial Hypocalciuric Hypercalcemia |
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Fatigue, Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increas... |
ORPHA:405 |
Lowry-Wood Syndrome |
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Abnormality of retinal pigmentation, Short stature |
ORPHA:1824 |
Dpagt1-Cdg |
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Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Akinesia, Tremor, Abn... |
ORPHA:86309 |
Retinitis Pigmentosa 75 |
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Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Immune-Mediated Necrotizing Myopathy |
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Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
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Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,... |
OMIM:620292 |
Erythrocytosis, Familial, 8 |
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Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Cri-Du-Chat Syndrome |
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Inguinal hernia, Hyperactivity, Small for gestational age, Diastasis recti, Aggressive behavior, ... |
OMIM:123450 |
Transketolase Deficiency |
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Hepatomegaly, Ventricular septal defect, Proportionate short stature, Abnormal repetitive manneri... |
ORPHA:488618 |
Heterotaxy, Visceral, 1, X-Linked |
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Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a... |
OMIM:306955 |
Holoprosencephaly-Craniosynostosis Syndrome |
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Abnormality of retinal pigmentation, Short stature |
ORPHA:2163 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
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Dextrocardia, Infantile spasms, Interhypothalamic adhesion, Focal impaired awareness seizure, Mic... |
OMIM:618929 |
Hyperoxaluria, Primary, Type Iii |
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Hyperoxaluria, Calcium oxalate nephrolithiasis |
OMIM:613616 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
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Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Hermansky-Pudlak Syndrome |
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Fatigue, Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Epistaxis, Abdominal pai... |
ORPHA:79430 |
White-Sutton Syndrome |
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Ventral hernia, Cerebellar atrophy, Inguinal hernia, Hyperactivity, Facial hypotonia, Short statu... |
ORPHA:468678 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Fetal ascites, Flexion contracture, Knee flexion contracture, Facial erythema, Arthralgia, Hypoca... |
OMIM:619503 |
Snijders Blok-Campeau Syndrome |
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Inguinal hernia, Perimembranous ventricular septal defect, Pulmonic stenosis, Attention deficit h... |
OMIM:618205 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
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Organic aciduria, Hypotonia, Dry skin |
OMIM:620191 |
Angiostrongyliasis |
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Fatigue, Fever, Abdominal pain, Hypereosinophilia, Arthralgia, Myalgia, Neck pain, Pain |
ORPHA:74 |
Radio-Tartaglia Syndrome |
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Ventricular septal defect, Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperacti... |
OMIM:619312 |
Tetanus |
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Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Abnormal autonomic nervous... |
ORPHA:3299 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Ventricular septal defect, Postnatal growth retardation, Abnormal repetitive mannerisms, Reduced ... |
OMIM:301040 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
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Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, R... |
ORPHA:85167 |
Rauch-Steindl Syndrome |
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Hepatomegaly, Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, In... |
OMIM:619695 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive... |
OMIM:256040 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
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Respiratory alkalosis, Elevated circulating aspartate aminotransferase concentration, Abdominal p... |
OMIM:311250 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
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Cerebellar atrophy, Ankle flexion contracture, Cerebral atrophy, Dysphagia, Abnormal repetitive m... |
OMIM:617802 |
Werner Syndrome |
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Abnormality of retinal pigmentation, Telangiectasia of the skin, Short stature, Myocardial infarc... |
ORPHA:902 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Bowel incontinence, Short stature, Aggressive b... |
ORPHA:261494 |
22Q11.2 Duplication Syndrome |
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Ventricular septal defect, Growth delay, Hypoplastic left heart, Transposition of the great arter... |
ORPHA:1727 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Bone pain, Nephrocalcinosis, Aminoaciduria, L... |
ORPHA:1652 |
Houge-Janssens Syndrome 3 |
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Inguinal hernia, Muscular ventricular septal defect, Self-injurious behavior, Attention deficit h... |
OMIM:618354 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Abnormal aorti... |
ORPHA:261197 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Neurogenic blad... |
OMIM:619173 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
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Ventricular septal defect, Bicuspid aortic valve, Abnormal repetitive mannerisms, Abnormal heart ... |
ORPHA:500159 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Short stature, Aggressive behavior, Lymphopenia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Fatigue, Abdominal pain, Weight loss, Growth delay, Iron deficiency anemia, Steatorrhea, Exocrine... |
ORPHA:309031 |
Esophageal Atresia |
|
Omphalocele, Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, ... |
ORPHA:1199 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... |
OMIM:613179 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Aggressive behavior, Secundum atrial septal defect, Growth delay, Facial diplegia, Attention defi... |
OMIM:619121 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms, Dermal translucency |
ORPHA:529965 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Oral-pharyngeal dysphagia, Growth delay, Self-injurious behavior, Abnormal repetit... |
ORPHA:208447 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Apnea, Episodic tachypnea, Ataxia, Situs inversus totalis, Tremor, ... |
ORPHA:475 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Ureteral duplication, Renal dysplasia, Atrial septal defect, Ureteral hypopla... |
OMIM:614080 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Hypovolemia, Hypotonia, ... |
ORPHA:99885 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Renal agenesis, Hypoplastic left heart, Hypothalamic hamartoma, Mol... |
OMIM:277170 |
Ataxia-Telangiectasia |
|
Sinusitis, Ataxia, Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Tremo... |
OMIM:208900 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, Multiple cafe-au-lait spot... |
ORPHA:1969 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Fatigue, Tricuspid regurgitation, Impulsivity, Aggressive behavior, Sinus bradycardia, Mitral reg... |
OMIM:261990 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Scarring, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Renal cyst, Molar... |
OMIM:611134 |
Gallbladder Neuroendocrine Tumor |
|
Chronic fatigue, Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Episodi... |
ORPHA:100086 |
Lowry-Wood Syndrome |
|
Intrauterine growth retardation, Short stature, Pigmentary retinopathy |
OMIM:226960 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Citrullinemia, Classic |
|
Hepatomegaly, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxica... |
OMIM:215700 |
Xeroderma Pigmentosum |
|
Fatigue, Conjunctival telangiectasia, Fever, Short stature, Telangiectasia of the skin, Erythema,... |
ORPHA:910 |
Gastrointestinal Stromal Tumor |
|
Fatigue, Gastrointestinal hemorrhage, Abnormality of the liver, Dysphagia, Anemia |
ORPHA:44890 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal heart valve morphology,... |
ORPHA:217085 |
Xq28 (MECP2) duplication |
|
Failure to thrive, Abnormal repetitive mannerisms, Dysphagia |
DECIPHER:45 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Cerebellar vermis hypoplasia, Elevated circulating creatine kinase concentration, Respiratory fai... |
OMIM:616538 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Short stature, Delayed puberty |
ORPHA:2235 |
Acute Transverse Myelitis |
|
Back pain, Fatigue, Orthostatic hypotension, Abnormality of temperature regulation, Decreased cir... |
ORPHA:139417 |
Immunodeficiency 44 |
|
Increased serum lactate, Elevated circulating alanine aminotransferase concentration |
OMIM:616636 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fatigue, Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortene... |
ORPHA:99880 |
Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Cerebellar vermis hypoplasia, Short stature, Pigmentary retinopathy, Col... |
OMIM:618460 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Short stature, Junctional ectopic tachycardia, Pigme... |
OMIM:309801 |
Prolidase Deficiency |
|
Splenomegaly, Abnormality of retinal pigmentation, White forelock, Hepatomegaly |
ORPHA:742 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Short stature, Abnormal heart valve morphology,... |
ORPHA:217093 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Tremor, Congenital malformation of the left heart, Chiari type I malformat... |
ORPHA:3455 |
Nocardiosis |
|
Fatigue, Brain abscess, Pericarditis, Liver abscess, Abnormal heart valve morphology, Anorexia, O... |
ORPHA:31204 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278740 |
Parathyroid Carcinoma |
|
Fatigue, Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortene... |
ORPHA:143 |
Coccidioidomycosis |
|
Fatigue, Fever, Pericarditis, Renal insufficiency, Abnormality of the kidney, Eosinophilia, Abnor... |
ORPHA:228123 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor, Hematochezia, Anemia |
ORPHA:329971 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypoxemia, Pulmonary arterial hypertension, Micropenis, Hypospadias |
ORPHA:2282 |
Occipital Horn Syndrome |
|
Recurrent urinary tract infections, Hypothermia, Jaundice, Hypotonia, Hepatitis, Cholestasis, Bla... |
ORPHA:198 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Apraxia, Senile plaques |
OMIM:606889 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Ataxia, Hypopi... |
ORPHA:636 |
Developmental And Epileptic Encephalopathy 6B |
|
Abnormal repetitive mannerisms, Sudden unexpected death in epilepsy |
OMIM:619317 |
Lymphangioleiomyomatosis |
|
Fatigue, Abnormal urinary color, Renal neoplasm, Gastrointestinal hemorrhage, Fever, Abdominal pa... |
ORPHA:538 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Short stature, Ventricular septal defect, Growth delay, Chia... |
ORPHA:3380 |
Biotinidase Deficiency |
|
Metabolic ketoacidosis, Hypotonia, Hyperammonemia, Organic aciduria, Spastic paraparesis, Limb mu... |
ORPHA:79241 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Neoplasm of the gallbladder,... |
ORPHA:512 |
Renal Coloboma Syndrome |
|
Optic disc coloboma, Retinal coloboma, Optic nerve dysplasia |
ORPHA:1475 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect... |
OMIM:607872 |
Inhalational Anthrax |
|
Fatigue, Fever, Internal hemorrhage, Hypotension |
ORPHA:247257 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, Self-injurious behavior, Brain atrophy, Atrial septal defect, Abnormal repetiti... |
ORPHA:457351 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Neonatal respiratory distress, Hypospadias, Flexion contracture, Lateral ventricle dilatation, Dy... |
OMIM:619479 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Myositis, Pericarditis, Recurrent urinary tract infections, ... |
ORPHA:3310 |
Pilarowski-Bjornsson Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms, Dermal translucency |
OMIM:617682 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:615368 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Obesity, Self-injurious behavi... |
ORPHA:819 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Hyperactivity, Small for gestational age, Overweight, Pica, Obsessive-compulsiv... |
OMIM:617796 |
Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Neoplasm of the anterior pituitary, Pituitary hypothyroidi... |
ORPHA:54595 |
Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Cerebral cortical atrophy, Limb... |
OMIM:618004 |
Bohring-Opitz Syndrome |
|
Apnea, Facial hypotonia, Cardiomegaly, Inability to walk, Optic atrophy, Bilateral wrist flexion ... |
ORPHA:97297 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Short stature, Hypotonia, Metabolic acidosis, Renal tubular acidosis, ... |
OMIM:619575 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Fatigue, Achilles tendon calcification |
OMIM:617994 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Dysphagia, Weight loss |
ORPHA:1332 |
Hijazi-Reis Syndrome |
|
Postnatal growth retardation, Abnormal repetitive mannerisms |
OMIM:301094 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Elevated gamma-glu... |
ORPHA:64 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Impaired vibratory sensation, Abnormal circulating enzyme concentration or activity, Peripheral a... |
ORPHA:1900 |
Plague |
|
Fatigue, Hepatomegaly, Tachycardia, Fever, Abdominal pain, Hematemesis, Splenomegaly, Endocarditi... |
ORPHA:707 |
Joubert Syndrome 38 |
|
Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased response to growth hormone s... |
OMIM:619476 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Aggressive behavior, Self-injurious behavior, Mitral regurgitation, Attention deficit hyperactivi... |
ORPHA:313892 |
Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms, Hyperactivity, Mild postnatal growth retardation, Abnormal temper... |
ORPHA:530983 |
Cocaine Intoxication |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Tremor, Tachypnea, Tubu... |
ORPHA:90068 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Renal neoplasm, Hypertriglyceridemia, Short stature, Telangiectasia of t... |
ORPHA:79474 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia,... |
OMIM:300967 |
Prolactinoma |
|
Fatigue, Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Abnormal repetitive mannerisms |
ORPHA:411986 |
48,Xxyy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Attention deficit hyperactivity diso... |
ORPHA:10 |
Botulism |
|
Fatigue, Abdominal pain |
ORPHA:1267 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Cardiomegaly, Thrombocytopenia, Hepatosplenomegaly, Dystonia,... |
ORPHA:79330 |
Iatrogenic Botulism |
|
Fatigue |
ORPHA:254509 |
Tsh-Secreting Pituitary Adenoma |
|
Fatigue, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertensio... |
ORPHA:91347 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms, Cerebral cortical atrophy |
ORPHA:85277 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hypothermia, Chronic kidney disease, Growth delay, Anemia, Syncope, Recurrent fever, Unexplained ... |
ORPHA:642 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Facial hypotonia, Repetitive compulsive behavior, Dysphagia, Bruxism, Decreased body weight, Abno... |
OMIM:300260 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Hypotonia, Hyperammonemia, Anisopoikilocytosis, Renal tubular aci... |
OMIM:616457 |
4Q21 Microdeletion Syndrome |
|
Growth delay, Intrauterine growth retardation, Self-injurious behavior, Abnormal repetitive manne... |
ORPHA:238750 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Urinary incontinence, Hypotonia, Joint contracture of the 5th finger, Intrauterine growth retarda... |
OMIM:619934 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Facial hypotonia, Diastasis recti, Brain atrophy, Umbilical hernia, Abnormal repetitive mannerism... |
OMIM:616579 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect, Short stature, Aggressive behavior, Postnatal growth retardation, Fail... |
OMIM:212066 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cerebellar atrophy, Ventricular septal defect, Head-banging, Attention deficit hyperactivity diso... |
OMIM:619103 |
Native American Myopathy |
|
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Respirator... |
ORPHA:168572 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Hypospadias, Centrally nucleated skeletal muscle fibers, Glandular hypospad... |
OMIM:300219 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Tendon xanthomatosi... |
ORPHA:391665 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperac... |
OMIM:619580 |
Inhalational Botulism |
|
Fatigue |
ORPHA:254504 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Camptodactyly of finger, Dextrocardia, Abnormal heart valve morphology... |
ORPHA:99776 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... |
OMIM:618825 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles, Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms |
OMIM:618430 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Agenesis of cerebellar vermis, Optic nerve dysplasia, Hypoplasia of the brainstem, Cerebellar hem... |
OMIM:615287 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Asplenia, Perifoveal ring of hyperautofluorescence, Pigmentary retinopa... |
OMIM:240300 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia, Paraparesis, Brain stem compression, Elevated circulating alkaline phosphatase con... |
OMIM:602080 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Mitral valve prolapse, Hypertension, Self-injurious behavior,... |
ORPHA:449291 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Decreased heart rate variability, Attention def... |
OMIM:619005 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Hypoesthesia, Ragged-red muscle fibers... |
OMIM:603041 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Aggressive beh... |
ORPHA:457279 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278720 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Facial palsy, Abnormal muscle fiber morphology |
ORPHA:3068 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles, Senile plaques |
DECIPHER:48 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Fatigue, Decreased circulating cortisol level, Severe B lymphocytopenia, Autoimmune thrombocytope... |
ORPHA:293978 |
African Trypanosomiasis |
|
Fatigue, Hepatomegaly, Pericarditis, Renal insufficiency, Rigors, Urinary incontinence, Abnormal ... |
ORPHA:3385 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Exercise intolerance, Weakness of facial musculature, Fatigue, Knee flexion contracture |
OMIM:617239 |
Microvillus Inclusion Disease |
|
Metabolic acidosis, Nephrocalcinosis, Hypovolemia, Abnormal renal physiology |
ORPHA:2290 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:145260 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104300 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Senile plaques |
OMIM:605055 |
5Q14.3 Microdeletion Syndrome |
|
Frontal cortical atrophy, Abnormal repetitive mannerisms |
ORPHA:228384 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Atrial septal def... |
ORPHA:881 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618906 |
Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Hepatomegaly, Rhizomelia, Aganglionic megacolon, Heart block... |
ORPHA:175 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Episodic ketoacidosis |
OMIM:245050 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104310 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cerebellar dysplasia, Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Hypoplasia of the... |
OMIM:253280 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Absent mesencephalon, Poorly formed metencephalon, Retinal dysplasia, Cerebellar dysplasia |
OMIM:601374 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Atrial septal defect, Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Card... |
OMIM:245600 |
Richards-Rundle Syndrome |
|
Distal amyotrophy, Hypertonia, Ketonuria |
ORPHA:1399 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Lymphatic Filariasis |
|
Fatigue, Fever, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hypereosinophilia, He... |
ORPHA:2035 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormal repetitive mannerisms, Ventricular septal defect, Attention deficit hyperactivity disorder |
OMIM:618504 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Flexion contracture, Attention deficit hyperactivity disorder, Enamel hypoplasia, Abnormal repeti... |
OMIM:619293 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Hyperactivity, Aggressive behavior, Corpus callosum atrophy, Cerebral atrophy... |
ORPHA:168491 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Short stature, Elbow contracture, Abnormal heart morphology, Compulsive behaviors, Attention defi... |
OMIM:615656 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Chromosome 5P13 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Small for gestational age, Compulsive be... |
OMIM:613174 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Growth delay, Abnormal repetitive mannerisms, Cerebral cortical atrophy |
OMIM:619428 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Urinary incontinence, Bowel incontinence, Growth del... |
ORPHA:496641 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketoacidosis, Ketonuria |
OMIM:616095 |
Functioning Gonadotropic Adenoma |
|
Enlarged polycystic ovaries, Fatigue, Ascites, Delayed puberty |
ORPHA:91348 |
Kufor-Rakeb Syndrome |
|
Fatigue, Fever, Oculogyric crisis, Urinary incontinence, Bowel incontinence, Rigidity, Blepharosp... |
ORPHA:306674 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Fasciitis, Chronic fatigue, Autoimmune thrombocytop... |
ORPHA:331235 |
2Q37 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Obesity, Compulsive behaviors, Attention deficit ... |
ORPHA:1001 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Fatigue, Viral hepatitis, Recurrent urinary tract infections, Liver abscess, Cholangitis, Arthral... |
ORPHA:183675 |
Ritscher-Schinzel Syndrome 4 |
|
Short stature, Impulsivity, Aggressive behavior, Impaired toileting ability, Dysphagia, Abnormal ... |
OMIM:619435 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Short stature, Rhabdomyo... |
OMIM:251260 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Malt Lymphoma |
|
Fatigue, Abdominal pain, Anemia, Weight loss |
ORPHA:52417 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarco... |
ORPHA:116 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Hypoplasia o... |
OMIM:616546 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Macrocephaly-Developmental Delay Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Hepatosplenomegaly |
ORPHA:397612 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Fatigue, Metabolic alkalosis, Hypertension, Increased circulati... |
ORPHA:786 |
Xeroderma Pigmentosum, Complementation Group A |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278700 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Aggressive behavior, Complete atrioventricular canal defect, Compulsive beh... |
ORPHA:476126 |
Kleefstra Syndrome 1 |
|
Aggressive behavior, Obesity, Conotruncal defect, Macroglossia, Compulsive behaviors, Abnormal re... |
OMIM:610253 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Abnormal repetitive mannerisms |
OMIM:613443 |
Chikungunya |
|
Fatigue, Shoulder pain, Fever, Epistaxis, Raynaud phenomenon, Erythema, Arthralgia, Myalgia, Skin... |
ORPHA:324625 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Abnormal penis morphology, Fatigue, Fever, Dysuria, Vulvodynia, Re... |
ORPHA:95455 |
Tangier Disease |
|
Hypertriglyceridemia, Abdominal pain, Dry skin, Hepatosplenomegaly, Anemia, Facial diplegia, Hypo... |
ORPHA:31150 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Camptodactyly of finger, Elevated c... |
OMIM:309000 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy, Respiratory insufficiency |
OMIM:616720 |
Xeroderma Pigmentosum, Complementation Group D |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Generalized hypotonia, Glycosuria |
OMIM:618857 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Clonus, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment... |
OMIM:606721 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal... |
OMIM:130650 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Unilateral renal agenesis, Mitral valve prolapse, Proximal amyotrophy,... |
OMIM:606408 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Hughes-Stovin Syndrome |
|
Fatigue, Fever, Pulmonary embolism, Vasculitis, Chest pain, Pulmonary arterial hypertension |
ORPHA:228116 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Abnormality of the diencephalon |
ORPHA:2165 |
Meckel Syndrome, Type 1 |
|
Dilated fourth ventricle, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger, Spl... |
OMIM:249000 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... |
ORPHA:30 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Renal cyst, Respiratory insufficiency, Stillbirth, Cerebellar hypoplasia, Molar... |
OMIM:616300 |
Xfe Progeroid Syndrome |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperchloremic metabolic acidosis, Hyperkalemia |
OMIM:614495 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Abnormal repetitive mannerisms, Facial hypotonia |
OMIM:617807 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Intrauterine growth retardation, Inguinal hernia, Disproportionate sho... |
OMIM:608022 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608049 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Rigidity, Cerebral amyloid angiopathy, Hypertonia, Spasticity |
OMIM:176500 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Urinary incontinence, Bowel incontinence |
ORPHA:168782 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Decreased proportion of CD8-positive T cells, Disproportionate short stature, Hyper... |
ORPHA:508533 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Short stature, Aggressive behavior, Attention deficit hyperactivity disord... |
OMIM:300352 |
Trichothiodystrophy |
|
Defective DNA repair after ultraviolet radiation damage |
ORPHA:33364 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Splen... |
OMIM:188400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Abnormal repetitive mannerisms, Ventricular septal defect, Attention deficit hyperactivity disorder |
OMIM:620073 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Ventricular septal defect, Short stature, Congenital diaphragmati... |
ORPHA:96121 |
Prader-Willi Syndrome Due To Translocation |
|
Short stature, Abnormal repetitive mannerisms, Obesity, Head-banging, Abnormal heart morphology, ... |
ORPHA:177907 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatremia, Glomeru... |
ORPHA:534 |
Bilateral Perisylvian Polymicrogyria |
|
Lower limb spasticity, Cerebellar vermis hypoplasia, Paraparesis, Oromotor apraxia, Spastic tetra... |
ORPHA:98889 |
Ramon Syndrome |
|
Optic disc pallor, Short stature, Pigmentary retinopathy, Telangiectasia |
OMIM:266270 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Hy... |
ORPHA:2463 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms |
OMIM:619877 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:606688 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Restrictive ventilato... |
OMIM:187300 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Mitral valve calcification, Arthralgia/arthritis, Chron... |
ORPHA:558 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Car... |
OMIM:616503 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Ventricular septal defect, Short stature, Impulsivity, Cerebral atrophy, Grow... |
OMIM:301030 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Growth delay, Pigmentary retinopathy |
OMIM:614230 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Aggressive behavior, Tongue thrusting, Bruxism, Cellulitis, Abnormal r... |
OMIM:606232 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Arthralgia, Chronic fatigue, Striae distensae |
OMIM:619656 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Macroglossia, Abnormal repetitive mannerisms |
ORPHA:261144 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hyperactivity, Multiple joint contractures, Ventricular septal defect, Smal... |
ORPHA:464306 |
Alagille Syndrome 1 |
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Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu... |
OMIM:118450 |
Juvenile Polyposis Syndrome |
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Gastrointestinal hemorrhage, Brain abscess, Spontaneous, recurrent epistaxis, Hepatic arterioveno... |
ORPHA:2929 |
Classical Ehlers-Danlos Syndrome |
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Fatigue, Inguinal hernia, Orthostatic hypotension, Hiatus hernia, Incisional hernia, Cigarette-pa... |
ORPHA:287 |
Bainbridge-Ropers Syndrome |
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Growth delay, Contracture of the proximal interphalangeal joint of the 4th finger, Self-injurious... |
OMIM:615485 |
Argininosuccinic Aciduria |
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Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Macroglossia... |
ORPHA:96191 |
Cerebellofaciodental Syndrome |
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Ventricular septal defect, Hypoplasia of the pons, Mitral valve prolapse, Cerebellar hypoplasia, ... |
OMIM:616202 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Fatigue, Fever, Myositis, Retroperitoneal fibrosis, Tubulointerstitial nephritis, Abnormality of ... |
ORPHA:79078 |
Cog1-Cdg |
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Cerebellar vermis hypoplasia, Rhizomelia, Postnatal growth retardation, Temporal cortical atrophy... |
ORPHA:263508 |
Helsmoortel-Van Der Aa Syndrome |
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Hyperactivity, Short stature, Facial palsy, Abnormal repetitive mannerisms, Obesity, Heart murmur... |
OMIM:615873 |
Retinoblastoma |
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Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c... |
ORPHA:790 |
Norrie Disease |
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Diabetes mellitus, Clonus, Cachexia, Abnormality of the diencephalon, Optic atrophy, Seizure, Hyp... |
ORPHA:649 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
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Abnormal repetitive mannerisms, Bruxism |
OMIM:616351 |
Generalized Arterial Calcification Of Infancy |
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Cardiomegaly, Nephrocalcinosis, Arthralgia, Hypophosphatemic rickets, Elevated alkaline phosphata... |
ORPHA:51608 |
Acromegaly |
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Fatigue, Dysuria, Wide penis, Long penis, Macroglossia, Hypertension, Arthralgia, Mitral regurgit... |
ORPHA:963 |
Wiedemann-Steiner Syndrome |
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Hyperactivity, Rhizomelia, Short stature, Aggressive behavior, Postnatal growth retardation, Dysp... |
ORPHA:319182 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conductio... |
ORPHA:353281 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Cerebellar atrophy, Multiple joint contractures, Severe short stature, Camptodactyly of finger, A... |
ORPHA:468631 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia, Abnormal repetitive mannerisms, Short stature |
ORPHA:2479 |
Somatomammotropinoma |
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Fatigue, Dysuria, Macroglossia, Hypertension, Arthralgia, Mitral regurgitation, Hypertrophic card... |
ORPHA:314769 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabet... |
ORPHA:1578 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
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Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Cholelithiasis, Aggressive behavior, Obesity, Hepatosplenomegaly, Cholecystitis, Um... |
OMIM:301066 |
Orofaciodigital Syndrome Xiv |
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Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defect, Epispadias, Partia... |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
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Dilated fourth ventricle, Ventricular septal defect, Epispadias, Partial agenesis of the corpus c... |
ORPHA:434179 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
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Hyperactivity, Self-injurious behavior, Frequent temper tantrums, Compulsive behaviors, Atrial se... |
OMIM:619512 |
Pitt-Hopkins-Like Syndrome 1 |
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Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... |
OMIM:610042 |
Osteogenesis Imperfecta |
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Abnormal endocardium morphology, Neonatal respiratory distress, Somatic sensory dysfunction, Smal... |
ORPHA:666 |
Adenocarcinoma Of The Anal Canal |
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Chronic fatigue, Abdominal pain, Skin ulcer, Neoplasm of the liver, Intestinal bleeding |
ORPHA:424016 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Progressive flexion contractures, Repetitive compulsive behavior, Self-biting, Atrial septal defe... |
ORPHA:522077 |
Witteveen-Kolk Syndrome |
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Fatigue, Inguinal hernia, Hyperactivity, Small for gestational age, Short stature, Congenital dia... |
OMIM:613406 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
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Abnormal repetitive mannerisms, Dysphagia |
ORPHA:572013 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal... |
ORPHA:508498 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
OMIM:300486 |
D-Lactic Aciduria With Gout |
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Lacticaciduria |
OMIM:245450 |
Spondylocarpotarsal Synostosis Syndrome |
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Abnormality of retinal pigmentation, Disproportionate short-trunk short stature |
OMIM:272460 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder |
ORPHA:98784 |
Kinsship Syndrome |
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Short stature, Brain atrophy, Bruxism, Failure to thrive, Abnormal repetitive mannerisms |
OMIM:619297 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms... |
ORPHA:353277 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
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Hyperactivity, Multiple joint contractures, Urinary incontinence, Hair-pulling, Brain atrophy, Dy... |
ORPHA:447997 |
Non-Acquired Panhypopituitarism |
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Fatigue, Pituitary dwarfism, Short stature, Growth delay, Delayed puberty |
ORPHA:90695 |
Sotos Syndrome |
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Ureteral duplication, Cerebellar vermis hypoplasia, Tremor, Flexion contracture, Atrial septal de... |
ORPHA:821 |
Aneurysm-Osteoarthritis Syndrome |
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Aortic regurgitation, Atrial fibrillation, Chronic fatigue, Camptodactyly of finger, Abnormal hea... |
ORPHA:284984 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Decreased muscle mass, Small for gestational age, Ventricular septal defect, Sh... |
OMIM:194190 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
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Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxism, Abnormal r... |
OMIM:616393 |
X-Linked Intellectual Disability, Armfield Type |
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Short stature, Aminoaciduria, Abnormal cardiac septum morphology, Galactosuria, Organic aciduria |
ORPHA:85276 |
Yunis-Varon Syndrome |
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Redundant neck skin, Ventricular septal defect, Hypospadias, Short stature, Cardiomegaly, Postnat... |
ORPHA:3472 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Skeletal muscle atrophy, Hyperactivity, Small for gestational age, Short stature, Flexion contrac... |
OMIM:309590 |
Developmental And Epileptic Encephalopathy 100 |
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Bilateral camptodactyly, Elbow flexion contracture, Cerebral atrophy, Brain atrophy, Dysphagia, E... |
OMIM:619777 |
Achondroplasia |
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Respiratory distress, Brain stem compression, Upper airway obstruction |
OMIM:100800 |
Loeys-Dietz Syndrome 3 |
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Ventricular hypertrophy, Atrial septal defect, Inguinal hernia, Atrial fibrillation, Bicuspid aor... |
OMIM:613795 |
Proteus Syndrome |
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Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Sudden... |
ORPHA:744 |
Primrose Syndrome |
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Hip contracture, Skeletal muscle atrophy, Restlessness, Short stature, Aggressive behavior, Flexi... |
OMIM:259050 |
Hypermobile Ehlers-Danlos Syndrome |
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Fatigue, Inguinal hernia, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdominal wall mus... |
ORPHA:285 |
Arboleda-Tham Syndrome |
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Ventricular septal defect, Secundum atrial septal defect, Abnormal repetitive mannerisms, Upper l... |
OMIM:616268 |
Rett Syndrome, Congenital Variant |
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Tongue thrusting, Abnormal repetitive mannerisms, Bruxism |
OMIM:613454 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Inguinal hernia, Patent foramen ovale, Obesity, Heart murmur, Abnormal repetitive mannerisms |
OMIM:618653 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Truncal obesity,... |
OMIM:612474 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Ventricular septal defect, Repetitive compulsive behavior, Lower-limb joint contracture, Stereoty... |
ORPHA:513456 |
Pitt-Hopkins Syndrome |
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Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:610954 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
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Cerebellar atrophy, Short stature, Dysphagia, Weakness of facial musculature, Abnormal repetitive... |
OMIM:617330 |
Coffin-Siris Syndrome 12 |
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Elevated hepatic transaminase, Short stature, Facial palsy, Abnormal repetitive mannerisms, Tetra... |
OMIM:619325 |
Singleton-Merten Syndrome 1 |
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Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur... |
OMIM:620330 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Angina p... |
ORPHA:79318 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Growth delay, Pituitary dwarfism, Fatigue, Delayed puberty |
ORPHA:95494 |
Developmental And Epileptic Encephalopathy 2 |
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Abnormal repetitive mannerisms |
OMIM:300672 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Hyperactivity, Short stature, Hiatus hernia, Aggressive behavior, Hippocampal atrophy, Attention ... |
OMIM:614756 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Encopresis, Abnormal repetitive ma... |
OMIM:616682 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Ventricular septal defect, Urinary incontinence, Short stature, Growth delay, Attention deficit h... |
OMIM:619522 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Bicuspid aortic valve, Abnormal pulmonary valve morphology, Bowel incontinence, Urinary incontine... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Bicuspid aortic valve, Urinary incontinence, Bowel incontinence, Short stature, Asplenia, Flexion... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Bowel inco... |
ORPHA:261552 |
Nmda Receptor Encephalitis |
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Hypersexuality, Orthostatic hypotension, Agitation, Abnormal repetitive mannerisms |
ORPHA:217253 |