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Gene: Sod2 MGI:98352

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

superoxide dismutase 2, mitochondrial

Synonyms:

manganese superoxide dismutase, manganese SOD, Sod-2, MnSOD

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sod2 mutations

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

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

Human diseases associated with Sod2 (0 diseases)
Human diseases predicted to be associated with Sod2 (2721 diseases)

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

The table below shows human diseases predicted to be associated to Sod2 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ...	ORPHA:100070
Angelman Syndrome	Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atrophy, Myoclonus,...	ORPHA:72
Baker-Gordon Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:618218
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h...	OMIM:602782
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Fatigue, Myopathy, Abnormal dental enamel morphology, Skin vesicle	ORPHA:257
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Chronic f...	ORPHA:361
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Chronic fatigue, Hypercalcem...	ORPHA:97283
Perry Syndrome	Hypoventilation, Central hypoventilation, Akinesia, Parkinsonism, Tremor, Rigidity, Respiratory i...	OMIM:168605
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Hyperkalemi...	OMIM:614736
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Flexion contracture, Respiratory insufficiency, Arthrogryposis multiplex ...	ORPHA:178148
Mitochondrial Dna Depletion Syndrome 19	Hypospadias, Infantile spasms, Increased serum lactate, Focal-onset seizure, Myoclonus, Tetrapare...	OMIM:618972
Alazami Syndrome	Abnormal eating behavior, Postnatal growth retardation, Atrial septal defect, Abnormal repetitive...	ORPHA:319671
Early Infantile Epileptic Encephalopathy	Diffuse cerebral atrophy, Tremor, Choreoathetosis, Ureterocele, Micropenis, Seizure, Myoclonus, E...	ORPHA:1934
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Short stature, Secundum atrial septal defect, Cerebral atrophy, Inapprop...	OMIM:615802
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Ventricular septal defect, Brus...	OMIM:214100
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Small thenar e...	OMIM:618914
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Slender build, Heart murmur, Pulmonic stenosis, Attention deficit hyperactivity di...	OMIM:617600
Immunodeficiency 58	Fatigue, Recurrent cutaneous abscess formation, Short stature, Psoriasiform lesion, Atrophic scar...	OMIM:618131
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, Chronic fatigue, B lymphocytopenia	OMIM:618969
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Short stature, Hypothermi...	ORPHA:438213
Kanzaki Disease	Peripheral axonal neuropathy, Increased urinary O-linked sialopeptides, Axonal degeneration, Cere...	OMIM:609242
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, Neurofibrillary tangles, Splenomegaly, Jaundice, Prolonged neonatal jaundic...	OMIM:607625
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C...	ORPHA:904
Glioblastoma	Fatigue	ORPHA:360
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, ...	ORPHA:90324
Familial Pancreatic Carcinoma	Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Chronic fatigue, Anorexia, A...	ORPHA:1333
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:614120
Multiple Myeloma	Fatigue, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Bone pain, A...	ORPHA:29073
Mucolipidosis Ii Alpha/Beta	Increased serum beta-hexosaminidase, Cardiomegaly, Generalized hypotonia, Hepatomegaly, Neonatal ...	OMIM:252500
Renal Nutcracker Syndrome	Fatigue, Orthostatic hypotension, Tachycardia, Proteinuria, Abdominal pain, Flank pain, Hematuria...	ORPHA:71273
Holocarboxylase Synthetase Deficiency	Hypotonia, Hyperammonemia, Growth delay, Organic aciduria, Thrombocytopenia	ORPHA:79242
Lactic Acidosis, Chronic Adult Form	Hyperuricemia, Chronic lactic acidosis	OMIM:150170
Argininosuccinic Aciduria	Hepatomegaly, Respiratory alkalosis, Elevated circulating aspartate aminotransferase concentratio...	OMIM:207900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Retinal pigment epithelial mottling, Short stature	OMIM:617102
Macs Syndrome	Fatigue, Short stature, Redundant skin, Cutis laxa, Decreased body weight, Umbilical hernia	OMIM:613075
Pituicytoma	Fatigue	ORPHA:251623
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypertonia, Hypoalbuminemia, Generalized hypotonia, Hypocholesterolemia, Atrial septa...	OMIM:270400
Septo-Optic Dysplasia Spectrum	Fatigue, Short stature, Obesity, Polydipsia, Dry skin	ORPHA:3157
Bardet-Biedl Syndrome 6	Pigmentary retinopathy, Rod-cone dystrophy	OMIM:605231
Coffin-Siris Syndrome 7	Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Severe temper tantrums, Short st...	OMIM:618027
Viss Syndrome	Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Mitral valve prolapse...	OMIM:619472
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Ventricular septal defect, Bicuspid aortic valve, Umbilical hernia, Abnormal repet...	OMIM:617751
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Autosomal Dominant Dopa-Responsive Dystonia	Fatigue, Torticollis, Generalized dystonia, Progressive flexion contractures, Rigidity, Focal dys...	ORPHA:98808
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Short stature, Abnormal heart val...	ORPHA:580
Granulomatosis With Polyangiitis	Fatigue, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Retinal hemorrhage, Weight ...	OMIM:608710
Shukla-Vernon Syndrome	Cerebellar atrophy, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, A...	OMIM:301029
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Acth-Independent Macronodular Adrenal Hyperplasia 2	Fatigue, Increased body weight, Hypertension, Increased circulating cortisol level, Abdominal obe...	OMIM:615954
2Q23.1 Microdeletion Syndrome	Hyperactivity, Short stature, Polyphagia, Growth delay, Self-injurious behavior, Abnormal repetit...	ORPHA:228402
Familial Aortic Dissection	Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly	ORPHA:229
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,...	OMIM:231005
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h...	ORPHA:231160
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Neuronal loss in ce...	OMIM:607485
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Severe short stature, Retinal dystrophy,...	ORPHA:2526
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Apnea, Infantile spasms, Tremor, Jaundice, Flexion contracture, Re...	OMIM:608093
Carney Triad	Fatigue, Gastrointestinal hemorrhage, Tachycardia, Anorexia, Abdominal pain, Leiomyosarcoma, Hype...	ORPHA:139411
White-Sutton Syndrome	Hyperactivity, Facial hypotonia, Short stature, Congenital diaphragmatic hernia, Aggressive behav...	OMIM:616364
Laubry-Pezzi Syndrome	Fatigue, Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal d...	ORPHA:99094
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Enhanced S-Cone Syndrome	Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema	OMIM:268100
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Short st...	ORPHA:193
Familial Hypocalciuric Hypercalcemia	Fatigue, Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increas...	ORPHA:405
Lowry-Wood Syndrome	Abnormality of retinal pigmentation, Short stature	ORPHA:1824
Dpagt1-Cdg	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Akinesia, Tremor, Abn...	ORPHA:86309
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:617023
Immune-Mediated Necrotizing Myopathy	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	Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Mild short stature,...	OMIM:620292
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cri-Du-Chat Syndrome	Inguinal hernia, Hyperactivity, Small for gestational age, Diastasis recti, Aggressive behavior, ...	OMIM:123450
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Proportionate short stature, Abnormal repetitive manneri...	ORPHA:488618
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great a...	OMIM:306955
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Short stature	ORPHA:2163
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Dextrocardia, Infantile spasms, Interhypothalamic adhesion, Focal impaired awareness seizure, Mic...	OMIM:618929
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Hermansky-Pudlak Syndrome	Fatigue, Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Epistaxis, Abdominal pai...	ORPHA:79430
White-Sutton Syndrome	Ventral hernia, Cerebellar atrophy, Inguinal hernia, Hyperactivity, Facial hypotonia, Short statu...	ORPHA:468678
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Flexion contracture, Knee flexion contracture, Facial erythema, Arthralgia, Hypoca...	OMIM:619503
Snijders Blok-Campeau Syndrome	Inguinal hernia, Perimembranous ventricular septal defect, Pulmonic stenosis, Attention deficit h...	OMIM:618205
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities	Organic aciduria, Hypotonia, Dry skin	OMIM:620191
Angiostrongyliasis	Fatigue, Fever, Abdominal pain, Hypereosinophilia, Arthralgia, Myalgia, Neck pain, Pain	ORPHA:74
Radio-Tartaglia Syndrome	Ventricular septal defect, Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperacti...	OMIM:619312
Tetanus	Tachycardia, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Abnormal autonomic nervous...	ORPHA:3299
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Postnatal growth retardation, Abnormal repetitive mannerisms, Reduced ...	OMIM:301040
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Severe short stature, Rhizomelia, R...	ORPHA:85167
Rauch-Steindl Syndrome	Hepatomegaly, Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, In...	OMIM:619695
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive...	OMIM:256040
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Respiratory alkalosis, Elevated circulating aspartate aminotransferase concentration, Abdominal p...	OMIM:311250
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Ankle flexion contracture, Cerebral atrophy, Dysphagia, Abnormal repetitive m...	OMIM:617802
Werner Syndrome	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	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	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	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	Elevated hepatic transaminase, Ventricular septal defect, Hepatocellular carcinoma, Hepatic failu...	OMIM:118450
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Brain abscess, Spontaneous, recurrent epistaxis, Hepatic arterioveno...	ORPHA:2929
Classical Ehlers-Danlos Syndrome	Fatigue, Inguinal hernia, Orthostatic hypotension, Hiatus hernia, Incisional hernia, Cigarette-pa...	ORPHA:287
Bainbridge-Ropers Syndrome	Growth delay, Contracture of the proximal interphalangeal joint of the 4th finger, Self-injurious...	OMIM:615485
Argininosuccinic Aciduria	Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia	ORPHA:23
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Macroglossia...	ORPHA:96191
Cerebellofaciodental Syndrome	Ventricular septal defect, Hypoplasia of the pons, Mitral valve prolapse, Cerebellar hypoplasia, ...	OMIM:616202
Igg4-Related Dacryoadenitis And Sialadenitis	Fatigue, Fever, Myositis, Retroperitoneal fibrosis, Tubulointerstitial nephritis, Abnormality of ...	ORPHA:79078
Cog1-Cdg	Cerebellar vermis hypoplasia, Rhizomelia, Postnatal growth retardation, Temporal cortical atrophy...	ORPHA:263508
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Short stature, Facial palsy, Abnormal repetitive mannerisms, Obesity, Heart murmur...	OMIM:615873
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c...	ORPHA:790
Norrie Disease	Diabetes mellitus, Clonus, Cachexia, Abnormality of the diencephalon, Optic atrophy, Seizure, Hyp...	ORPHA:649
Intellectual Developmental Disorder, Autosomal Dominant 34	Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Generalized Arterial Calcification Of Infancy	Cardiomegaly, Nephrocalcinosis, Arthralgia, Hypophosphatemic rickets, Elevated alkaline phosphata...	ORPHA:51608
Acromegaly	Fatigue, Dysuria, Wide penis, Long penis, Macroglossia, Hypertension, Arthralgia, Mitral regurgit...	ORPHA:963
Wiedemann-Steiner Syndrome	Hyperactivity, Rhizomelia, Short stature, Aggressive behavior, Postnatal growth retardation, Dysp...	ORPHA:319182
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Short stature, Cardiac conductio...	ORPHA:353281
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Multiple joint contractures, Severe short stature, Camptodactyly of finger, A...	ORPHA:468631
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, Abnormal repetitive mannerisms, Short stature	ORPHA:2479
Somatomammotropinoma	Fatigue, Dysuria, Macroglossia, Hypertension, Arthralgia, Mitral regurgitation, Hypertrophic card...	ORPHA:314769
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Parkinsonism, Maturity-onset diabet...	ORPHA:1578
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics	OMIM:619725
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Aggressive behavior, Obesity, Hepatosplenomegaly, Cholecystitis, Um...	OMIM:301066
Orofaciodigital Syndrome Xiv	Atrial septal defect, Cerebellar vermis hypoplasia, Ventricular septal defect, Epispadias, Partia...	OMIM:615948
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Ventricular septal defect, Epispadias, Partial agenesis of the corpus c...	ORPHA:434179
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Self-injurious behavior, Frequent temper tantrums, Compulsive behaviors, Atrial se...	OMIM:619512
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:610042
Osteogenesis Imperfecta	Abnormal endocardium morphology, Neonatal respiratory distress, Somatic sensory dysfunction, Smal...	ORPHA:666
Adenocarcinoma Of The Anal Canal	Chronic fatigue, Abdominal pain, Skin ulcer, Neoplasm of the liver, Intestinal bleeding	ORPHA:424016
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Progressive flexion contractures, Repetitive compulsive behavior, Self-biting, Atrial septal defe...	ORPHA:522077
Witteveen-Kolk Syndrome	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	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Facial palsy, Truncus arteriosus, Ventricular septal...	ORPHA:508498
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	OMIM:300486
D-Lactic Aciduria With Gout	Lacticaciduria	OMIM:245450
Spondylocarpotarsal Synostosis Syndrome	Abnormality of retinal pigmentation, Disproportionate short-trunk short stature	OMIM:272460
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Abnormal repetitive mannerisms, Urinary incontinence, Attention deficit hyperactivity disorder	ORPHA:98784
Kinsship Syndrome	Short stature, Brain atrophy, Bruxism, Failure to thrive, Abnormal repetitive mannerisms	OMIM:619297
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Abnormal repetitive mannerisms...	ORPHA:353277
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Multiple joint contractures, Urinary incontinence, Hair-pulling, Brain atrophy, Dy...	ORPHA:447997
Non-Acquired Panhypopituitarism	Fatigue, Pituitary dwarfism, Short stature, Growth delay, Delayed puberty	ORPHA:90695
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, Tremor, Flexion contracture, Atrial septal de...	ORPHA:821
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Chronic fatigue, Camptodactyly of finger, Abnormal hea...	ORPHA:284984
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Small for gestational age, Ventricular septal defect, Sh...	OMIM:194190
Intellectual Developmental Disorder, Autosomal Dominant 38	Aggressive behavior, Hair-pulling, Cerebral atrophy, Self-injurious behavior, Bruxism, Abnormal r...	OMIM:616393
X-Linked Intellectual Disability, Armfield Type	Short stature, Aminoaciduria, Abnormal cardiac septum morphology, Galactosuria, Organic aciduria	ORPHA:85276
Yunis-Varon Syndrome	Redundant neck skin, Ventricular septal defect, Hypospadias, Short stature, Cardiomegaly, Postnat...	ORPHA:3472
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Hyperactivity, Small for gestational age, Short stature, Flexion contrac...	OMIM:309590
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Elbow flexion contracture, Cerebral atrophy, Brain atrophy, Dysphagia, E...	OMIM:619777
Achondroplasia	Respiratory distress, Brain stem compression, Upper airway obstruction	OMIM:100800
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial septal defect, Inguinal hernia, Atrial fibrillation, Bicuspid aor...	OMIM:613795
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Sudden...	ORPHA:744
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Restlessness, Short stature, Aggressive behavior, Flexi...	OMIM:259050
Hypermobile Ehlers-Danlos Syndrome	Fatigue, Inguinal hernia, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdominal wall mus...	ORPHA:285
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Abnormal repetitive mannerisms, Upper l...	OMIM:616268
Rett Syndrome, Congenital Variant	Tongue thrusting, Abnormal repetitive mannerisms, Bruxism	OMIM:613454
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Patent foramen ovale, Obesity, Heart murmur, Abnormal repetitive mannerisms	OMIM:618653
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re...	OMIM:301044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Truncal obesity,...	OMIM:612474
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Repetitive compulsive behavior, Lower-limb joint contracture, Stereoty...	ORPHA:513456
Pitt-Hopkins Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:610954
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar atrophy, Short stature, Dysphagia, Weakness of facial musculature, Abnormal repetitive...	OMIM:617330
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Short stature, Facial palsy, Abnormal repetitive mannerisms, Tetra...	OMIM:619325
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ...	OMIM:182250
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur...	OMIM:620330
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Lipodystrophy, Angina p...	ORPHA:79318
Combined Pituitary Hormone Deficiencies, Genetic Forms	Growth delay, Pituitary dwarfism, Fatigue, Delayed puberty	ORPHA:95494
Developmental And Epileptic Encephalopathy 2	Abnormal repetitive mannerisms	OMIM:300672
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Short stature, Hiatus hernia, Aggressive behavior, Hippocampal atrophy, Attention ...	OMIM:614756
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Cerebral hemorrhage, Hiatus hernia, Encopresis, Abnormal repetitive ma...	OMIM:616682
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Ventricular septal defect, Urinary incontinence, Short stature, Growth delay, Attention deficit h...	OMIM:619522
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Bowel incontinence, Urinary incontine...	ORPHA:261537
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Bowel incontinence, Short stature, Asplenia, Flexion...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Bowel inco...	ORPHA:261552
Nmda Receptor Encephalitis	Hypersexuality, Orthostatic hypotension, Agitation, Abnormal repetitive mannerisms	ORPHA:217253

Histopathology

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

There is no histopathology data for Sod2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sod2.

No publications found that use IMPC mice or data for Sod2.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Sod2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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