Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A-I concentration, ... |
OMIM:620058 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Abnormality of ext... |
OMIM:260300 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, Hemiparesis, Meningitis, Herpes simplex encephalitis |
OMIM:617900 |
Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... |
OMIM:128230 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Hemiparesis, Ataxia, Apraxia, Lethargy, Chorea, Myoclonus, Paralysis, Cyanosis, Hyper... |
ORPHA:71277 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Death in childhood, Ataxia, Chorea, Bradykinesia, Lethargy |
OMIM:618683 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... |
OMIM:619868 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, Hemiparesis, Meningitis, Herpes simplex encephalitis |
OMIM:613002 |
L-2-Hydroxyglutaric Aciduria |
|
Spastic tetraparesis, Infectious encephalitis, Abnormality of extrapyramidal motor function |
ORPHA:79314 |
Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... |
ORPHA:98762 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:607688 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... |
ORPHA:240103 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Cyanotic episode, Death in infancy, Myoclonus |
OMIM:610992 |
Dystonia 16 |
|
Abnormal pyramidal sign, Parkinsonism, Torticollis, Postural tremor, Bradykinesia |
ORPHA:210571 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Crigler-Najjar Syndrome |
|
Infectious encephalitis, Jaundice, Lethargy |
ORPHA:205 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Immunodeficiency 31A |
|
BCGitis, Recurrent mycobacterium avium complex infections, Recurrent viral infections, Herpes sim... |
OMIM:614892 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:613643 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Hypercholesterolemia, Increased C-peptide level |
OMIM:620211 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Cogwheel rigidity, Ankle clonus, Scissor gait, Lateral ventricle dilatation, Bradykin... |
ORPHA:363654 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Parkinsonism, Apraxia, Rigidity, Bradykinesia, Slurred speech, Action tremor, Babinsk... |
OMIM:300423 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... |
OMIM:213600 |
Juvenile Huntington Disease |
|
Progressive cerebellar ataxia, Ataxia, Rigidity, Chorea, Ventriculomegaly, Bradykinesia, Gait ata... |
ORPHA:248111 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Spasticity, Ataxia, Rigidity, Bradykinesia, Fasciculations |
OMIM:183050 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Frequent falls, Ankle clonus, Rigidity, Bradykinesia, Lower limb hypertonia, Spastic gait, Babins... |
ORPHA:100984 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... |
ORPHA:314632 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:600116 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Limb ataxia, Bradykinesia, Spastic paraplegia, Upper limb spasticity, Babinski sign, Lower limb s... |
OMIM:618418 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Babinski sign |
ORPHA:521406 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Parkinsonism, Ataxia, Postural tremor, Abnormality of extrapyramidal motor function, Rigidity, Br... |
ORPHA:101150 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Lateral ventricle dilatation, Tremor, Bradykinesia |
ORPHA:306669 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Abnormal pyramidal sign, Spastic tetraplegia, Parkinsonism, Ataxia, Bradykinesia, Gait ataxia, Sp... |
OMIM:617225 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Bradykinesia, Slurred speech, Rigidity, Dysdiadochokinesis |
OMIM:609161 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic gait, Abnormal pyramidal sign, Spastic tetraparesis, Bradykinesia |
OMIM:619052 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1 |
|
Recurrent herpes, Herpes simplex encephalitis |
OMIM:610551 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Parkinsonism, Limb ataxia, Rigidity, Bradykinesia, Babinski sign, Hypertonia |
OMIM:618824 |
Spinocerebellar Ataxia 17 |
|
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Rigidity, Chorea, Bradykinesia, Intention tremor, Gai... |
OMIM:607136 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis |
OMIM:613796 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Abnormal pyramidal sign, Parkinsonism, Ataxia, Chorea, Bradykinesia, Slurred speech, Dysmetria |
OMIM:618317 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:605909 |
Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Rigidity, Bradykinesia, Pill-... |
OMIM:615528 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
ORPHA:306692 |
Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Rigidity, Dysdiadochokinesis |
ORPHA:228169 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:616710 |
Zika Virus Disease |
|
Miscarriage, Maculopapular exanthema, Meningitis, Skin rash, Arthritis, Infectious encephalitis, ... |
ORPHA:448237 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Rigidity |
ORPHA:306686 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:619279 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Dystonia 12 |
|
Tremor, Bradykinesia, Parkinsonism, Torticollis |
OMIM:128235 |
Nipah Virus Disease |
|
Tremor, Infectious encephalitis, Myoclonus, Recurrent pharyngitis |
ORPHA:99825 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating creatine kina... |
OMIM:616828 |
Rapid-Onset Dystonia-Parkinsonism |
|
Parkinsonism, Torticollis, Gait ataxia, Bradykinesia, Resting tremor |
ORPHA:71517 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Limb myoclonus, Torticollis, Limb ataxia, Postural tremor, Gait ataxia, Bradykinesia |
OMIM:619862 |
Huntington Disease-Like 1 |
|
Frequent falls, Simultanapraxia, Clumsiness, Ventriculomegaly, Chorea, Bradykinesia, Gait ataxia,... |
ORPHA:157941 |
Huntington Disease |
|
Gait ataxia, Chorea, Rigidity, Bradykinesia |
OMIM:143100 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... |
OMIM:183090 |
Typhoid |
|
Ataxia, Skin rash, Lethargy, Tremor, Infectious encephalitis, Hypertonia |
ORPHA:99745 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Immunodeficiency 37 |
|
Infectious encephalitis, Colitis, Recurrent infections |
OMIM:616098 |
Growth Hormone Insensitivity Syndrome |
|
Hypercholesterolemia |
ORPHA:181393 |
Infantile Dystonia-Parkinsonism |
|
Abnormal pyramidal sign, Parkinsonism, Limb hypertonia, Chorea, Bradykinesia, Cerebral palsy, Hyp... |
ORPHA:238455 |
Dravet Syndrome |
|
Parkinsonism, Cogwheel rigidity, Progressive gait ataxia, Rigidity, Bradykinesia, Cyanotic episod... |
ORPHA:33069 |
Corticobasal Syndrome |
|
Limb myoclonus, Parkinsonism, Oromotor apraxia, Speech apraxia, Tremor, Bradykinesia, Limb apraxi... |
ORPHA:454887 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7 |
|
Herpes simplex encephalitis |
OMIM:616532 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Babinski sign, Recurrent respiratory infections, Bradykinesia |
OMIM:619063 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Recurrent bacterial ... |
OMIM:209920 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Bradykinesia, Rigidity, Ataxia |
OMIM:617836 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Parkinsonism, Apraxia, Rigidity, Bradykinesia |
OMIM:221820 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Gait apraxia, Dysdiadochokinesis,... |
OMIM:615157 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity |
OMIM:618878 |
Neurocutaneous Melanocytosis |
|
Hemiparesis, Death in infancy, Ventriculomegaly, Infectious encephalitis, Dandy-Walker malformation |
ORPHA:2481 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
ORPHA:240085 |
Scrub Typhus |
|
Myocarditis, Meningitis, Skin rash, Tremor, Infectious encephalitis, Anterior uveitis, Lethargy |
ORPHA:83317 |
Leber Optic Atrophy And Dystonia |
|
Spasticity, Bradykinesia, Upper motor neuron dysfunction, Athetosis |
OMIM:500001 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia, Hypertonia, Choreoathetosis |
OMIM:261640 |
Huntington Disease-Like 2 |
|
Bradykinesia, Action tremor, Rigidity, Chorea |
OMIM:606438 |
Complement Component 8 Deficiency, Type I |
|
Meningitis |
OMIM:613790 |
Machado-Joseph Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia, Ataxia, Facial-lingual fasc... |
OMIM:109150 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
|
Viral encephalitis |
OMIM:619441 |
Ataxia-Oculomotor Apraxia 4 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia |
OMIM:616267 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
Cerebral Visual Impairment |
|
Oculomotor apraxia, Meningitis, Hydrocephalus, Clumsiness, Infectious encephalitis, Cerebral pals... |
ORPHA:447788 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Bradykinesia, Parkinsonism, Hypertonia, Limb hypertonia |
OMIM:617384 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Molluscum contagiosum, Herpes simplex encephalitis, Recurrent otitis media, Bronchiectasis, Recur... |
OMIM:618982 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Spasticity, Oromotor apraxia, Ataxia, Clumsiness, Paraparesis, Lateral ventricle dilatation, Brad... |
OMIM:617854 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Abnormal pyramidal sign, Ankle clonus, Tremor, Bradykinesia, Hypertonia |
OMIM:617435 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Bradykinesia, Spastic tetraplegia, Rigidity, Spastic paraparesis |
OMIM:615643 |
Subacute Sclerosing Panencephalitis |
|
Infectious encephalitis |
OMIM:260470 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10 |
|
Herpes simplex encephalitis |
OMIM:619396 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:614203 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic neuritis, Ataxia, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic m... |
ORPHA:254886 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5 |
|
Herpes simplex encephalitis |
OMIM:614849 |
Pfapa Syndrome |
|
Infectious encephalitis, Arthritis, Recurrent pharyngitis |
ORPHA:42642 |
Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Spastic dysarthria, Chorea, T... |
ORPHA:282166 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Abnormal pyramidal sign, Parkinsonism, Cogwheel rigidity, Rigidity, Chore... |
OMIM:613135 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Hemiparesis, Ataxia, Bradykinesia, Gait ataxia, Episodic ataxia, Incoordination, Truncal ataxia, ... |
OMIM:601338 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Torticollis, Ataxia, Parkinsonism with favorable response to dopaminerg... |
OMIM:606693 |
Aspergillosis |
|
Meningitis, Invasive pulmonary aspergillosis, Hepatitis, Sinusitis, Infectious encephalitis, Bron... |
ORPHA:1163 |
Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hyperkinetic movements, Ataxia, Clonus, Abnormality of extrapyramidal motor function, Rigidity, C... |
ORPHA:13 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Parkinsonism, Ataxia, Cogwheel rigidity, Chorea, Bradykinesia, Intention tremor, Myoclonus, Resti... |
OMIM:619725 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent enteroviral infe... |
OMIM:307200 |
Avian Influenza |
|
Miscarriage, Meningitis, Hypoxemia, Hepatitis, Infectious encephalitis, Pneumonia, Conjunctivitis... |
ORPHA:454836 |
Spinocerebellar Ataxia 10 |
|
Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Limb fasciculations, Abnorma... |
OMIM:603516 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Apraxia, Tremor, Bradykinesia, Spastic paraplegia, Res... |
OMIM:300055 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Meningitis, Fulminant hepatitis, Infectious encephalitis, Recur... |
OMIM:308240 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Myocarditis, Recurrent urinary tract infections, Glomerulonephritis, Meningitis, Ski... |
ORPHA:36234 |
Listeriosis |
|
Peritonitis, Myocarditis, Hemiparesis, Endocarditis, Ataxia, Arteritis, Myoclonus, Unusual CNS in... |
ORPHA:533 |
X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Aspiration pneumonia, Hand tremor, Blepharospasm, Parkinsonism with favorable res... |
ORPHA:53351 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Reynolds Syndrome |
|
Jaundice, Skin rash, Keratoconjunctivitis sicca, Mucosal telangiectasiae, Arthritis, Infectious e... |
ORPHA:779 |
Dystonia 16 |
|
Abnormal pyramidal sign, Parkinsonism, Retrocollis, Postural tremor, Bradykinesia, Involuntary mo... |
OMIM:612067 |
Meningococcal Meningitis |
|
Skin rash, Infectious encephalitis, Purpura, Petechiae, Lethargy |
ORPHA:33475 |
Spinocerebellar Ataxia Type 1 |
|
Progressive cerebellar ataxia, Postural tremor, Dysdiadochokinesis, Chorea, Bradykinesia, Slurred... |
ORPHA:98755 |
Multiple System Atrophy |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Progressive cerebellar ataxia, Postural tr... |
ORPHA:102 |
Gm1 Gangliosidosis |
|
Spasticity, Recurrent respiratory infections, Aspiration pneumonia, Ataxia, Abnormality of extrap... |
ORPHA:354 |
Legionnaires Disease |
|
Myocarditis, Jaundice, Endocarditis, Ataxia, Pancreatitis, Hepatitis, Infectious encephalitis, Re... |
ORPHA:549 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Limb hypertonia, Rigidity, Tremor, Bradykinesia, Cerebral palsy |
ORPHA:70594 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Postural tremor, ... |
OMIM:606324 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Erythema, Tubulointerstitial nephritis, Skin rash, Angioedema, Hepatitis, Infectious... |
ORPHA:139402 |
Atypical Juvenile Parkinsonism |
|
Abnormal pyramidal sign, Slowed slurred speech, Rigidity, Bradykinesia, Gait ataxia, Myoclonus, R... |
ORPHA:391411 |
Hartnup Disease |
|
Infectious encephalitis, Cutaneous photosensitivity, Ataxia, Skin rash |
ORPHA:2116 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoclonus... |
OMIM:618877 |
Whipple Disease |
|
Myocarditis, Abnormal pyramidal sign, Ataxia, Hydrocephalus, Uveitis, Arthritis, Infectious encep... |
ORPHA:3452 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Oculomotor apraxia, Blepharospasm, Speech apraxia, Rigidit... |
ORPHA:99750 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Incoordination |
ORPHA:36387 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Maculopapular exanthema, Bruising susceptibility, Skin rash, Colitis, Ecchymosis, Infec... |
ORPHA:540 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Parkinsonism, Clumsiness, Postural tremor, Rigidity, Bradykinesia, Resting tremor |
OMIM:619911 |
Huntington Disease |
|
Clonus, Clumsiness, Rigidity, Chorea, Bradykinesia, Myoclonus, Babinski sign, Involuntary movemen... |
ORPHA:399 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Tremor, Bradykinesia, Babinski... |
OMIM:606159 |
Lyme Disease |
|
Arthritis, Uveitis, Infectious encephalitis, Meningitis |
ORPHA:91546 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent streptococcus pneumoniae infections, Parkinsonism, Hemiplegia, Titubation, Chorea, Brad... |
ORPHA:225147 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Parkinsonism, Hand tremor, Rigidity, Bradykinesia, Babinski sign, Spa... |
ORPHA:289560 |
Multiple System Atrophy, Parkinsonian Type |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Progressive cerebellar ataxia, Postural tr... |
ORPHA:98933 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Jaundice, Ataxia, Meningitis, Hemiplegia, Infectious encephalitis, Tetraplegia, Hypertonia |
OMIM:267700 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Infectious encephalitis, Death in infancy |
ORPHA:1194 |
Multiple System Atrophy, Cerebellar Type |
|
Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:227510 |
Congenital Enterovirus Infection |
|
Myocarditis, Meningitis, Skin rash, Ventriculomegaly, Hepatitis, Infectious encephalitis |
ORPHA:292 |
Fragile X Tremor/Ataxia Syndrome |
|
Parkinsonism, Postural tremor, Dysdiadochokinesis, Bradykinesia, Intention tremor, Gait ataxia, R... |
OMIM:300623 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Jaundice, Ataxia, Meningitis, Skin rash, Hemiplegia, Infectious encephalitis, Tetraplegia, Hypert... |
OMIM:603553 |
Cln3 Disease |
|
Acne, Bradykinesia, Extrapyramidal muscular rigidity, Ataxia |
ORPHA:228346 |
Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Poor fine motor coordination |
ORPHA:171442 |
Rift Valley Fever |
|
Jaundice, Miscarriage, Hemiparesis, Skin rash, Paraparesis, Uveitis, Hepatitis, Infectious enceph... |
ORPHA:319251 |
Hereditary Methemoglobinemia |
|
Spasticity, Spastic tetraplegia, Athetosis, Cyanosis, Hypertonia |
ORPHA:621 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia |
OMIM:208920 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Limb myoclonus, Hypertonia |
ORPHA:306 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Parkinsonism, Clumsiness, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Lower lim... |
OMIM:617013 |
Japanese Encephalitis |
|
Weakness due to upper motor neuron dysfunction, Meningitis, Choreoathetosis, Cogwheel rigidity, A... |
ORPHA:79139 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Abnormality of extrapyramidal motor function, Rigidity, Tremor, Bradykinesia, Poor ... |
OMIM:613280 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Immunoglobulin A Vasculitis |
|
Erythema, Orchitis, Bruising susceptibility, Skin rash, Angioedema, Vascular skin abnormality, He... |
ORPHA:761 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Elevated circulating ... |
ORPHA:64753 |
Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
Gerstmann-Straussler Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Apraxia, Rigidity, Tremor, Bradykinesia, Gait ataxia, Myoc... |
OMIM:137440 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Chronic hepatitis, Meningitis, Ankle clonus, Hypoxemia, Recurrent lower respiratory t... |
OMIM:308230 |
Childhood-Onset Nemaline Myopathy |
|
Clumsiness, Bradykinesia, Poor fine motor coordination |
ORPHA:171439 |
Waisman Syndrome |
|
Parkinsonism, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:311510 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Caribbean Parkinsonism |
|
Parkinsonism, Weakness due to upper motor neuron dysfunction, Apraxia, Progressive gait ataxia, R... |
ORPHA:97355 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Parkinsonism, Limb ataxia, Rigidity, Bradykinesia, Intention tremor, Gait ataxia, Babinski sign, ... |
OMIM:258450 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Encephalopathy, Ethylmalonic |
|
Ataxia, Death in infancy, Abnormality of extrapyramidal motor function, Petechiae, Babinski sign,... |
OMIM:602473 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
Lymphoproliferative Syndrome 2 |
|
Uveitis, Severe varicella zoster infection, Recurrent pneumonia, Persistent EBV viremia, EBV ence... |
OMIM:615122 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Increased VLDL ... |
OMIM:144650 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral hepatitis, Meningitis, Recurrent lower respirator... |
OMIM:300755 |
New-Onset Refractory Status Epilepticus |
|
Infectious encephalitis |
ORPHA:363558 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Parkinsonism, Torticollis, Ataxia, Postural tremor, Abnormality of extrapyramidal motor function,... |
ORPHA:98808 |
Poliomyelitis |
|
Hyperkinetic movements, Meningitis, Paraparesis, Infectious encephalitis, Paralysis, Fasciculatio... |
ORPHA:2912 |
Parkinson Disease 8, Autosomal Dominant |
|
Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykin... |
OMIM:607060 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Acute Disseminated Encephalomyelitis |
|
Abnormal pyramidal sign, Optic neuritis, Hemiparesis, Disseminated viral infection, Ataxia, Diaph... |
ORPHA:83597 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6 |
|
Recurrent aphthous stomatitis, Herpes simplex encephalitis |
OMIM:614850 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
Alexander Disease |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Hydrocephalus, Clonus, Aqueductal stenosis, Chorea, ... |
ORPHA:58 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Parkinsonism with favorable response to dop... |
ORPHA:240071 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech |
OMIM:619827 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614251 |
Parkinson Disease 21 |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:616361 |
American Trypanosomiasis |
|
Myocarditis, Infectious encephalitis, Skin rash |
ORPHA:3386 |
Q Fever |
|
Myocarditis, Maculopapular exanthema, Endocarditis, Meningitis, Hepatitis, Infectious encephaliti... |
ORPHA:781 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Bradykinesia, Parkinsonism |
ORPHA:412066 |
Neonatal Alloimmune Neutropenia |
|
Miscarriage, Jaundice, Meningitis, Severe infection, Pneumonia |
ORPHA:464370 |
Postencephalitic Parkinsonism |
|
Abnormal pyramidal sign, Cogwheel rigidity, Rigidity, Bradykinesia, Tremor by anatomical site, Re... |
ORPHA:97349 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Cyanotic episode, Myoclonus, Spastic tetraparesis, Hypertonia |
ORPHA:284417 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Vocal cord paralysis |
OMIM:150260 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Weakness due to upper motor neuron dysfunction, Progressive spastic paraplegia, Scissor gait, Bra... |
ORPHA:466722 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
Microsporidiosis |
|
Peritonitis, Myocarditis, Keratoconjunctivitis, Cholangitis, Endocarditis, Pancreatitis, Myositis... |
ORPHA:2552 |
Spinocerebellar Ataxia Type 13 |
|
Limb ataxia, Torticollis, Clumsiness, Titubation, Bradykinesia, Gait ataxia, Myoclonus |
ORPHA:98768 |
Manganese Poisoning |
|
Cogwheel rigidity, Postural tremor, Abnormality of extrapyramidal motor function, Bradykinesia, H... |
ORPHA:306682 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Oculomotor apraxia, Blepharospasm, Spastic dysarthria, Rigidity, Tremor, Bradykinesia |
ORPHA:240094 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Recurrent otitis media, Opisthotonus, Patent ductus arteriosus, Cyanosis, Hypertonia |
ORPHA:3304 |
Nocardiosis |
|
Peritonitis, Unusual CNS infection, Keratitis, Endocarditis, Meningitis, Scleritis, Lymphadenitis... |
ORPHA:31204 |
Spinocerebellar Ataxia Type 8 |
|
Spasticity, Limb ataxia, Ataxia, Spastic dysarthria, Rigidity, Bradykinesia, Gait ataxia |
ORPHA:98760 |
Ethylmalonic Encephalopathy |
|
Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Petechiae, Acrocya... |
ORPHA:51188 |
Parkinsonian-Pyramidal Syndrome |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Bradykinesia, Intention tremor, Myoc... |
ORPHA:171695 |
Benign Familial Neonatal Epilepsy |
|
Limb myoclonus, Circumoral cyanosis, Clonus |
ORPHA:1949 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Behçet Disease |
|
Abnormal pyramidal sign, Optic neuritis, Orchitis, Endocarditis, Meningitis, Recurrent aphthous s... |
ORPHA:117 |
Brucellosis |
|
Myocarditis, Knee osteoarthritis, Pericarditis, Glomerulonephritis, Orchitis, Miscarriage, Endoca... |
ORPHA:1304 |
Neuroferritinopathy |
|
Parkinsonism, Blepharospasm, Chorea, Palatal tremor, Bradykinesia, Resting tremor, Babinski sign,... |
ORPHA:157846 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Spasticity, Ataxia, Hydrocephalus, Paraparesis, Aqueductal stenosis, Ventriculomegaly, Paraplegia... |
ORPHA:1136 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Hypertonia, Opisthotonus |
OMIM:250800 |
Chiari Malformation Type Ii |
|
Cyanosis, Opisthotonus, Ataxia, Hydrocephalus |
OMIM:207950 |
Zygomycosis |
|
Peritonitis, Myocarditis, Endocarditis, Pancreatitis, Colitis, Gastritis, Hepatitis, Sinusitis, U... |
ORPHA:73263 |
Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Parkinsonism, Eyelid myoclonus, Hemiparesis, Hand tremor, Clumsiness, Ankle clonus, U... |
OMIM:612953 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Xanthelasma, Hyperapobe... |
OMIM:210250 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:278000 |
Incontinentia Pigmenti |
|
Spasticity, Erythema, Skin rash, Uveitis, Hemiplegia/hemiparesis, Infectious encephalitis, Telang... |
ORPHA:464 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Hypoxemia, Pneumonia, Cyanosis, Brain abscess |
OMIM:610910 |
Complement Component 4B Deficiency |
|
Meningitis, Chronic active hepatitis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinu... |
OMIM:614379 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Recurrent upper respiratory tract infections |
OMIM:263000 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Infectious encephalitis, Spastic paraplegia, Death in infancy |
ORPHA:847 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Spasticity, Chorea, Dysdiadochokinesis, Bradykinesia, Intention tremor, Gait ataxia, Babinski sig... |
OMIM:610217 |
Perry Syndrome |
|
Tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:168605 |
Hsd10 Disease, Infantile Type |
|
Hyperkinetic movements, Poor coordination, Spastic diplegia, Cyanosis, Choreoathetosis, Spastic t... |
ORPHA:391428 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Parkinsonism, Hand tremor, Parkinsonism with favorable response to dopaminergic medication, Rigid... |
OMIM:157640 |
Primary Progressive Freezing Gait |
|
Frequent falls, Clonus, Postural tremor, Rigidity, Bradykinesia, Babinski sign |
ORPHA:75567 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:615558 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Amoebiasis Due To Free-Living Amoebae |
|
Hemiparesis, Ataxia, Lethargy, Sinusitis, Unusual skin infection, Infectious encephalitis, Pneumo... |
ORPHA:68 |
Parkinson Disease, Late-Onset |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:168600 |
Chikungunya |
|
Erythema, Maculopapular exanthema, Enthesitis, Skin rash, Arthritis, Infectious encephalitis, Pet... |
ORPHA:324625 |
Immunodeficiency 59 And Hypoglycemia |
|
Acne inversa, Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Prolon... |
OMIM:233600 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Chronic mucocutaneous candidiasis, Recurrent herpes, Hepati... |
ORPHA:391487 |
Scedosporiosis |
|
Pericarditis, Endocarditis, Arthralgia/arthritis, Pulmonary tuberculosis, Severe infection, Funga... |
ORPHA:449280 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Meningitis, Failure to thrive secondary to recurrent infections, Arthritis, Purulent rhinitis, Pn... |
OMIM:601457 |
Progressive Supranuclear Palsy |
|
Tremor, Bradykinesia, Rigidity, Blepharospasm |
ORPHA:683 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Limb hypertonia, Ventriculomegaly, Gait ataxia, Opisthotonus, Cyanosis, Choreoathetosis |
OMIM:619580 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
Parkinson Disease 1, Autosomal Dominant |
|
Parkinsonism, Rigidity, Bradykinesia, Myoclonus, Resting tremor |
OMIM:168601 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Clumsiness, Parkinsonism with favorable response to dopaminergic medication, Progress... |
ORPHA:199351 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia, Pneumonia |
ORPHA:70587 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Erythema, Ataxia, Recurrent aphthous stomatitis, Arthritis, Purpura, Urticaria, Acro... |
ORPHA:343 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Meningitis, Recurrent bacterial infections, Recurrent otitis me... |
OMIM:613500 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Jaundice, Rigidity, Dysdiadochokinesis, Bradykinesia, Action tremor, Hypertonia, Poor fine motor ... |
ORPHA:309854 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Meningitis, Deep dermatophytosis, Chronic tinea infection, Chronic oral candidiasis, Onychomycosis |
OMIM:212050 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Frequent falls, Ataxia, Cogwheel rigidity, Abnormality of extrapyramidal motor function, Rigidity... |
ORPHA:254892 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Opisthotonus, Subcutaneous hemorrhage, Bruising susceptibility |
ORPHA:335 |
Megalocornea-Mental Retardation Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Hereditary Late-Onset Parkinson Disease |
|
Frequent falls, Parkinsonism, Parkinsonism with favorable response to dopaminergic medication, Ri... |
ORPHA:411602 |
Young-Onset Parkinson Disease |
|
Spasticity, Bradykinesia, Rigidity, Tremor |
ORPHA:2828 |
Immunodeficiency 66 |
|
Recurrent skin infections, Pustule, Meningitis |
OMIM:618847 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Immunodeficiency, Common Variable, 2 |
|
Meningitis, Recurrent bacterial infections, Recurrent otitis media, Recurrent pneumonia, Bronchie... |
OMIM:240500 |
Eosinophilic Fasciitis |
|
Arthritis, Myositis, Acrocyanosis, Fasciitis |
ORPHA:3165 |
Selective Igm Deficiency |
|
Chronic sinusitis, Recurrent shingles, Recurrent herpes, Chronic oral candidiasis, Severe infecti... |
ORPHA:331235 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Intention tremor, Truncal ataxia, Acrocyanosis |
OMIM:614407 |
Non Rare In Europe: Central Precocious Puberty |
|
Acne, Meningitis, Hydrocephalus |
ORPHA:759 |
Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Lateral ventricle dilatation, Tubulointerstitial nephritis, Ventriculomegaly |
ORPHA:488627 |
Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Eyelid apraxia, Involuntary movements |
OMIM:615530 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Parkinsonism, Ataxia, Rigidity, Bradykinesia, Intention tremor, Gait ataxia, Dysmetria |
ORPHA:93256 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Meningitis, Skin rash, A... |
ORPHA:229717 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
Cysticercosis |
|
Upper motor neuron dysfunction, Infectious encephalitis, Iridocyclitis, Ataxia |
ORPHA:1560 |
Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
Multiple System Atrophy 1, Susceptibility To |
|
Parkinsonism, Ataxia, Rigidity, Tremor, Bradykinesia, Babinski sign |
OMIM:146500 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Recurrent respiratory infections |
ORPHA:2004 |
Sepsis In Premature Infants |
|
Jaundice, Meningitis, Severe infection, Purpura, Enterocolitis, Petechiae, Cyanosis, Disseminated... |
ORPHA:90051 |
Rett Syndrome |
|
Bradykinesia, Cholecystitis, Limb apraxia |
ORPHA:778 |
Acquired Methemoglobinemia |
|
Cyanosis, Hypoxemia |
ORPHA:464453 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Chronic otitis media, Meningitis, Skin rash, Arthritis, Hepatit... |
ORPHA:33110 |
Aicardi-Goutieres Syndrome 1 |
|
Spasticity, Erythema, Prolonged neonatal jaundice, Abnormality of extrapyramidal motor function, ... |
OMIM:225750 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Bradykinesia, Babinski sign |
OMIM:614924 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Hypoxemia, Patent ductus arteriosus |
ORPHA:860 |
Kufor-Rakeb Syndrome |
|
Abnormal pyramidal sign, Parkinsonism, Blepharospasm, Lethargy, Rigidity, Bradykinesia, Eyelid ap... |
ORPHA:306674 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Blepharospasm, Abnormality of extrapyr... |
OMIM:234200 |
Pulmonary Arteriovenous Malformation |
|
Bacterial endocarditis, Recurrent abscess formation, Hypoxemia, Telangiectasia, Cyanosis, Brain a... |
ORPHA:2038 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Recurrent respiratory infections, Hypoxemia |
ORPHA:2257 |
Cryptogenic Organizing Pneumonia |
|
Cyanosis, Hypoxemia |
ORPHA:1302 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Endocarditis, Tubulointerstitial nephritis, Skin rash, Myositis, Urticaria, Hemipleg... |
ORPHA:183 |
Complement Factor B Deficiency |
|
Peritonitis, Meningitis, Recurrent bacterial infections, Pneumonia, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Conjunctivitis, Meningitis, Chronic oral candidiasis |
OMIM:616740 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Death in childhood, Spasticity, Ataxia, Death in infancy, Recurrent lower respiratory tract infec... |
OMIM:618426 |
Tularemia |
|
Meningitis, Skin rash, Inflammatory abnormality of the eye, Cutaneous abscess, Pneumonia, Conjunc... |
ORPHA:3392 |
Tetrasomy 5P |
|
Cyanosis, Recurrent respiratory infections, Hydrocephalus |
ORPHA:3309 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Cyanosis, Death in infancy, Neonatal death |
OMIM:265120 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Inflammatory abnormality of the skin, Bacterial endoca... |
ORPHA:48435 |
Asbestos Intoxication |
|
Cyanosis, Hypoxemia, Oxygen desaturation on exertion |
ORPHA:2302 |
Hypocomplementemic Urticarial Vasculitis |
|
Meningitis, Skin rash, Angioedema, Ataxia, Uveitis, Recurrent bacterial infections, Hemiplegia/he... |
ORPHA:36412 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis |
OMIM:610773 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Infectious encephalitis, Recurrent lower respiratory tract infections, Recurrent upper ... |
ORPHA:293987 |
Acute Interstitial Pneumonia |
|
Cyanosis, Hypoxemia, Bronchiectasis |
ORPHA:79126 |
Chronic Pneumonitis Of Infancy |
|
Cyanosis, Hypoxemia |
ORPHA:91359 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Chronic otitis media, Eczematoid dermatitis, Recurrent strept... |
ORPHA:83471 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Death in infancy, Neonatal death, Cyanosis, Nonspecific interstitial pneumonia |
OMIM:610921 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Vascular skin abnormality, Cerebral arteriovenous malformation, Hydrocephalus |
ORPHA:137667 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Meningitis, Recurrent sinusitis |
OMIM:619707 |
Waardenburg Syndrome Type 3 |
|
Spastic paraplegia, Acrocyanosis |
ORPHA:896 |
Acquired Purpura Fulminans |
|
Macular purpura, Acrocyanosis, Skin rash |
ORPHA:49566 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis |
ORPHA:444013 |
Choanal Atresia |
|
Cyanosis, Recurrent respiratory infections, Chronic sinusitis |
ORPHA:137914 |
Severe Combined Immunodeficiency, X-Linked |
|
Skin rash, Recurrent bacterial meningitis, Chronic oral candidiasis, Recurrent fungal infections,... |
OMIM:300400 |
Double Outlet Right Ventricle |
|
Cyanosis, Truncus arteriosus |
ORPHA:3426 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... |
ORPHA:470 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Lethargy |
ORPHA:159 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... |
ORPHA:90041 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent streptococcus pneumoniae infections, Glomerulonephr... |
OMIM:610984 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Congenital Myasthenic Syndrome |
|
Cyanosis, Recurrent respiratory infections, Ataxia |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Recurrent respiratory infections, Ataxia |
ORPHA:98914 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Lip telangiectasia, Conjunctival telangiectasia, Fingerpad telangiectases, Facial telangiectasia,... |
OMIM:600376 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Acrocyanosis |
ORPHA:1867 |
Fucosidosis |
|
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Aicardi-Goutières Syndrome |
|
Spasticity, Abnormal pyramidal sign, Spastic tetraplegia, Hemiplegia/hemiparesis, Prolonged neona... |
ORPHA:51 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Truncus arteriosus, Death in infancy |
OMIM:617478 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
X-Linked Agammaglobulinemia |
|
Chronic otitis media, Recurrent cutaneous abscess formation, Meningitis, Skin rash, Arthritis, He... |
ORPHA:47 |
Supranuclear Palsy, Progressive, 2 |
|
Parkinsonism, Retrocollis, Postural tremor, Rigidity, Bradykinesia, Eyelid apraxia |
OMIM:609454 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Conjunctival telangiectasia, Miscarriage, Fingerpad telangiectases, Hypoxemia... |
OMIM:187300 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
ORPHA:275761 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Recurrent pneumonia, Bronchiectasis, Cyanosis, Interstitial pneumonitis, Nonspecific i... |
OMIM:610913 |
Choreoacanthocytosis |
|
Hyperkinetic movements, Parkinsonism, Blepharospasm, Head titubation, Lateral ventricle dilatatio... |
ORPHA:2388 |
Autoinflammation With Infantile Enterocolitis |
|
Urticaria, Enterocolitis, Meningitis, Skin rash |
OMIM:616050 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Hypoxemia |
ORPHA:439 |
Progressive Multifocal Leukoencephalopathy |
|
Parkinsonism, Weakness due to upper motor neuron dysfunction, Meningitis, Hemiplegia/hemiparesis,... |
ORPHA:217260 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Lip telangiectasia, Conjunctival telangiectasia, Tongue telangiectasia, Nasal mucosa telangiectas... |
OMIM:610655 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Atopic dermatitis, Recurrent bacterial meningitis, Sinusitis, Recurrent upper and lower respirato... |
ORPHA:70593 |
Immunodeficiency 47 |
|
Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Spasticity, Ataxia, Babinski sign, Death in infancy, Cyanosis, Tongue fasciculations, Lethargy |
OMIM:252010 |
Supranuclear Palsy, Progressive, 1 |
|
Parkinsonism, Retrocollis, Rigidity, Tremor, Bradykinesia, Eyelid apraxia |
OMIM:601104 |
Adult-Onset Still Disease |
|
Myocarditis, Erythema, Meningitis, Skin rash, Arthritis, Hepatitis, Recurrent pharyngitis, Perica... |
ORPHA:829 |
Ethylene Glycol Poisoning |
|
Ataxia, Gastritis, Slurred speech, Myoclonus, Cyanosis |
ORPHA:31826 |
Fusariosis |
|
Peritonitis, Maculopapular exanthema, Myositis, Arthritis, Fasciitis, Sinusitis, Onychomycosis, I... |
ORPHA:228119 |
Aplasia Cutis-Myopia Syndrome |
|
Meningitis |
ORPHA:1117 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Recurrent pneumonia, Lethargy |
ORPHA:1329 |
Unilateral Polymicrogyria |
|
Spastic tetraplegia, Hemiparesis, Pseudobulbar paralysis, Myoclonus, Cyanosis, Involuntary moveme... |
ORPHA:268943 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hypercholesterolemia |
ORPHA:79259 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Hypocapnia, Patent ductus ... |
ORPHA:980 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Hypoxemia |
ORPHA:747 |
Myasthenia Gravis |
|
Hashimoto thyroiditis, Hepatitis, Rheumatoid arthritis, Myositis, Acrocyanosis |
ORPHA:589 |
Follicular Lymphoma |
|
Meningitis |
ORPHA:545 |
Parkes Weber Syndrome |
|
Paraplegia, Cerebral arteriovenous malformation, Prominent superficial blood vessels |
ORPHA:90307 |
Cinca Syndrome |
|
Meningitis, Uveitis, Retrobulbar optic neuritis, Purpura, Inflammatory abnormality of the eye, Ur... |
ORPHA:1451 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Eczematoid dermatitis, Inflammatory abnormality of the skin, Colitis, Gastritis, Crusting erythem... |
ORPHA:37042 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Hemiplegia, Lethargy, Hydrocephalus |
ORPHA:137675 |
Cinca Syndrome |
|
Arthritis, Uveitis, Meningitis, Skin rash |
OMIM:607115 |
Arachnoiditis |
|
Meningitis, Hydrocephalus |
ORPHA:137817 |
Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
Congenital Tracheomalacia |
|
Bronchiectasis, Pneumonia, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
ORPHA:95430 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Cyanosis, Recurrent respiratory infections, Aortopulmonary window, Patent ductus arteriosus |
ORPHA:99050 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Chronic otitis media, Recurrent viral infections, Meningitis, Recurrent bacterial infections, Rec... |
ORPHA:169090 |
Tarp Syndrome |
|
Cyanosis, Athetoid cerebral palsy |
ORPHA:2886 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Hypoxemia |
ORPHA:199241 |
Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Meningitis, Sinusitis, Inflammatory abnormality of the eye, Ecz... |
ORPHA:379 |
Angiostrongyliasis |
|
Unusual CNS infection, Meningitis, Ventriculomegaly |
ORPHA:74 |
Gorham-Stout Disease |
|
Torticollis, Osteomyelitis, Meningitis |
ORPHA:73 |
Esophageal Atresia |
|
Recurrent respiratory infections, Esophagitis, Vocal cord paresis, Cyanosis, Hypertonia |
ORPHA:1199 |
Rat-Bite Fever |
|
Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Meningitis... |
ORPHA:31205 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia |
ORPHA:555874 |
Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia, Hypokalemia, Hypoammonemia, Hyponatremia |
ORPHA:534 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Incoordination, Acrocyanosis |
OMIM:223900 |
Immunodeficiency 68 |
|
Septic arthritis, Recurrent skin infections, Lymphadenitis, Recurrent meningitis |
OMIM:612260 |
Phace Syndrome |
|
Hemiplegia/hemiparesis, Dandy-Walker malformation, Cerebral arteriovenous malformation |
ORPHA:42775 |
Mixed Connective Tissue Disease |
|
Myocarditis, Meningitis, Skin rash, Keratoconjunctivitis sicca, Arthritis, Gastritis, Purpura, My... |
ORPHA:809 |
Eisenmenger Syndrome |
|
Bacterial endocarditis, Hypoxemia, Aortopulmonary window, Patent ductus arteriosus, Cyanosis, Let... |
ORPHA:97214 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Familial Dysautonomia |
|
Recurrent respiratory infections, Ataxia, Acrocyanosis |
ORPHA:1764 |
Whim Syndrome |
|
Limb ataxia, Meningitis, Severe periodontitis, Recurrent bacterial infections, Lymphadenitis, Par... |
ORPHA:51636 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Recurrent bacterial infections, Pneumonia |
ORPHA:99104 |
Lowe Oculocerebrorenal Syndrome |
|
Bicarbonaturia, Elevated circulating creatine kinase concentration, Elevated maternal serum alpha... |
OMIM:309000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis, Hydrocephalus |
OMIM:261740 |
Coccidioidomycosis |
|
Peritonitis, Morbilliform rash, Pericarditis, Coccidioidal meningitis, Skin rash, Hydrocephalus, ... |
ORPHA:228123 |
Tick-Borne Encephalitis |
|
Hyperkinetic movements, Meningitis, Speech apraxia, Tremor, Paralysis, Tongue fasciculations, Unu... |
ORPHA:297 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cyanosis, Aqueductal stenosis, Patent ductus arteriosus, Hydrocephalus |
OMIM:306955 |
Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis, Recurrent respiratory infections |
ORPHA:99106 |
Pulmonary Alveolar Microlithiasis |
|
Cyanosis, Hypoxemia, Bronchiectasis, Oxygen desaturation on exertion |
ORPHA:60025 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Cerebral arteriovenous malformation |
OMIM:175050 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Aortic Arch Interruption |
|
Cyanosis, Aortopulmonary window, Truncus arteriosus, Patent ductus arteriosus |
ORPHA:2299 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Hemiparesis, Recurrent otitis media, Recurrent pneumonia, Chron... |
OMIM:150230 |
Pitt-Hopkins Syndrome |
|
Gait ataxia, Esophagitis, Ataxia, Acrocyanosis |
ORPHA:2896 |
Atrial Septal Defect, Ostium Secundum Type |
|
Cyanosis, Recurrent bacterial infections, Pneumonia |
ORPHA:99103 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
Wiskott-Aldrich Syndrome |
|
Chronic otitis media, Recurrent respiratory infections, Keratitis, Inflammation of the large inte... |
ORPHA:906 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
Hydranencephaly |
|
Meningitis, Spastic diplegia, Ventriculomegaly, Opisthotonus, Lethargy |
ORPHA:2177 |
Acute Transverse Myelitis |
|
Spasticity, Severe viral infection, Meningitis, Extrapulmonary tuberculosis, Paraparesis, Abnorma... |
ORPHA:139417 |
Poems Syndrome |
|
Acrocyanosis |
ORPHA:2905 |
Giant Cell Arteritis |
|
Ataxia, Meningitis, Arthritis, Recurrent pharyngitis, Pericarditis |
ORPHA:397 |
Congenital Tracheal Stenosis |
|
Cyanosis, Patent ductus arteriosus |
ORPHA:141127 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Dermatomyositis |
|
Myocarditis, Recurrent respiratory infections, Erythema, Arthritis, Telangiectasia of the skin, P... |
ORPHA:221 |
Trichinellosis |
|
Hemiparesis, Meningitis, Skin rash, Hemiplegia, Lethargy, Babinski sign, Conjunctivitis |
ORPHA:863 |
Juvenile Polyposis Syndrome |
|
Mucosal telangiectasiae, Brain abscess, Cerebral arteriovenous malformation |
ORPHA:2929 |
Kawasaki Disease |
|
Myocarditis, Jaundice, Palmoplantar erythema, Meningitis, Skin rash, Cheilitis, Arthritis, Hepati... |
ORPHA:2331 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Inflammation of the large intestine, Meningitis, Skin rash, Blepharitis, Recurrent pneumonia, Col... |
OMIM:617718 |
Granulomatosis With Polyangiitis |
|
Chronic otitis media, Recurrent respiratory infections, Pericarditis, Meningitis, Skin rash, Panc... |
ORPHA:900 |
Familial Mediterranean Fever |
|
Peritonitis, Erythema, Orchitis, Meningitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis,... |
ORPHA:342 |
Primary Sjögren Syndrome |
|
Glomerulonephritis, Optic neuritis, Chronic active hepatitis, Chronic hepatitis, Meningitis, Tubu... |
ORPHA:289390 |
Truncus Arteriosus |
|
Cyanosis, Truncus arteriosus, Patent ductus arteriosus |
ORPHA:3384 |
Hutchinson-Gilford Progeria Syndrome |
|
Osteoarthritis, Premature skin wrinkling, Cyanosis, Generalized abnormality of skin, Prominent su... |
ORPHA:740 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia, Elevated circulating creatinine concentration,... |
OMIM:619534 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Chronic oral candidiasis, Recurrent fungal infections, Perianal abscess, Recurrent u... |
ORPHA:2968 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Hemiparesis, Meningitis, Acute colitis, Pancreatitis, Severe infection, Septic arthr... |
ORPHA:544482 |
Cryptococcosis |
|
Peritonitis, Meningitis, Hydrocephalus, Osteomyelitis, Pneumonia, Prostatitis |
ORPHA:1546 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Meningitis, Recurrent lower respiratory tract infections, Recurrent otitis media, Pneumonia, Recu... |
OMIM:600802 |
Hyperoxaluria, Primary, Type I |
|
Cutis marmorata, Acrocyanosis |
OMIM:259900 |
Familial Mediterranean Fever |
|
Peritonitis, Orchitis, Meningitis, Erysipelas, Arthritis, Crohn's disease, Pericarditis |
OMIM:249100 |
Pituitary Dermoid And Epidermoid Cysts |
|
Abnormal central motor function, Meningitis |
ORPHA:91351 |
Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Recurrent meningitis, Recurrent lower respiratory tract infe... |
OMIM:301000 |
Kikuchi-Fujimoto Disease |
|
Myocarditis, Malar rash, Erythema, Meningitis, Skin rash, Ataxia, Vasculitis in the skin, Pustule... |
ORPHA:50918 |
Classical Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Poor wound healing, Osteoarthritis, Ecchymosis, Prematurely aged appeara... |
ORPHA:287 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Patent ductus arteriosus |
ORPHA:216694 |
Primary Hyperoxaluria |
|
Cutis marmorata, Acrocyanosis |
ORPHA:416 |
Cardiac Valvular Dysplasia 1 |
|