Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Charcot-Marie-Tooth Disease, Axonal, Type 2V |
|
Paresthesia, Sensory ataxia, Distal sensory impairment |
OMIM:616491 |
Ataxia, Sensory, 1, Autosomal Dominant |
|
Babinski sign, Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark |
OMIM:608984 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Posterior Column Ataxia |
|
Impaired proprioception, Impaired vibratory sensation, Ataxia |
OMIM:176250 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Impaired temperature sensation, Progressive cerebellar ataxia |
OMIM:212890 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia |
OMIM:168885 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia |
OMIM:215030 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia |
ORPHA:1182 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity |
ORPHA:2672 |
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Limb ataxia |
ORPHA:211017 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Distal sensory impairment |
OMIM:212710 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:284282 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia |
ORPHA:94122 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Ataxia |
OMIM:136600 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Postural tremor |
ORPHA:85292 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Cyanosis |
OMIM:219400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia |
OMIM:619061 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:615957 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Ataxia |
ORPHA:85338 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:117210 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased serum bi... |
OMIM:620010 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia |
OMIM:617133 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia |
OMIM:604432 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... |
ORPHA:95434 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Phosphoserine Aminotransferase Deficiency |
|
Apnea, Death in infancy, Cyanotic episode |
OMIM:610992 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk |
OMIM:619333 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Malaria |
|
Retinopathy, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Spinocerebellar Ataxia 46 |
|
Positive Romberg sign, Gait ataxia, Dysmetria, Limb ataxia |
OMIM:617770 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations |
OMIM:613728 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... |
ORPHA:284332 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Cough, Tachypnea, Intercostal retractions, Reduced forced vital c... |
ORPHA:91359 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis, Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment |
OMIM:614224 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Progressive cerebellar ataxia |
OMIM:618412 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Gait disturbance, Tremor, Cogwheel rigidity... |
ORPHA:363710 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity |
OMIM:608029 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor |
OMIM:618425 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis |
OMIM:125370 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Cyanosis, Crackles, Wheezing, Pneumothorax, Cough, Res... |
ORPHA:1302 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:404499 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Cyanosis, Decreased nerve conduction velocity, Abnormal autonomic nervou... |
OMIM:252320 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... |
OMIM:610245 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function |
OMIM:616140 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dysp... |
OMIM:265120 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Laryngotracheoesophageal Cleft |
|
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Spinocerebellar Ataxia 4 |
|
Limb dysmetria, Babinski sign, Progressive cerebellar ataxia, Distal sensory impairment |
OMIM:600223 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... |
OMIM:609270 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxia |
ORPHA:101112 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination |
OMIM:130950 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... |
OMIM:180210 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait |
ORPHA:284271 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
|
Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Oculomotor apraxia |
OMIM:615217 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis |
OMIM:615159 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased total iron binding capacity, Increased ... |
OMIM:616278 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Decreased DLCO, Cough, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Dyspnea |
OMIM:610910 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hepatomegaly, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Spinocerebellar Ataxia 26 |
|
Incoordination, Gait ataxia, Truncal ataxia, Limb ataxia |
OMIM:609306 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Hepatomegaly, Splenomegaly |
OMIM:214900 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Hepatomegaly |
ORPHA:2924 |
Retinitis Pigmentosa 13 |
|
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus |
OMIM:600059 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Stridor |
OMIM:150260 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Hepatomegaly |
ORPHA:890 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... |
ORPHA:2414 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Nonproductive cough, Cyanosis, Reduced f... |
ORPHA:2302 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Nonspecific interstitial pneumonia, Cyanosis, Neonatal death, Tachyp... |
OMIM:610921 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, Incoordination, Gait ataxia... |
OMIM:616204 |
Joubert Syndrome 33 |
|
Oculomotor apraxia, Ataxia |
OMIM:617767 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Chorea |
OMIM:618683 |
Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Cyanosis, Respiratory insufficiency, In... |
OMIM:610913 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia |
OMIM:617120 |
Mitchell Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal autonomic nervous system physiology |
OMIM:618960 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Ataxia, Tetraplegia |
OMIM:616267 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Truncal ataxia, Limb ataxia |
OMIM:614229 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatomegaly |
OMIM:618528 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:185000 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... |
ORPHA:766 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatomegaly, Splenome... |
OMIM:618892 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Cyanosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ventilatory ... |
ORPHA:2257 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Central apnea |
ORPHA:71277 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Nystagmus, Hereditary Vertical |
|
Ataxia |
OMIM:164150 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Apnea, Death in infancy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulati... |
ORPHA:247598 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, ... |
ORPHA:98913 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal pattern of respiration, Sleep apnea, Death in infancy, Abnormal autonomic nervous system... |
ORPHA:168593 |
Choanal Atresia |
|
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... |
ORPHA:137914 |
Bile Acid Synthesis Defect, Congenital, 6 |
|
Ataxia, Slurred speech, Dysmetria |
OMIM:617308 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Con... |
OMIM:616860 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Optic disc pallor, Hyperalaninemia, Perimembranous ventricular septal defect, Ca... |
OMIM:619170 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis |
OMIM:250800 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Dyssynergia, Limb ataxia, Dysmetria, Blepha... |
ORPHA:101 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... |
OMIM:305390 |
Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea |
ORPHA:747 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Abnormal autonomic nervous system physiology |
OMIM:156310 |
Acute Interstitial Pneumonia |
|
Nonproductive cough, Cyanosis, Crackles, Tachypnea, Decreased DLCO, Pleural effusion, Bronchiecta... |
ORPHA:79126 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Retinal dystrophy |
ORPHA:713 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235700 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Ataxia |
ORPHA:3350 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Haddad Syndrome |
|
Central sleep apnea, Abnormal autonomic nervous system physiology, Central hypoventilation, Breat... |
ORPHA:99803 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
ORPHA:234 |
Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress |
ORPHA:464453 |
Multiple System Atrophy |
|
Autonomic erectile dysfunction, Central sleep apnea, Abnormal autonomic nervous system physiology... |
ORPHA:102 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... |
OMIM:133780 |
Benign Familial Neonatal Epilepsy |
|
Apnea, Circumoral cyanosis |
ORPHA:1949 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Riboflavin Transporter Deficiency |
|
Sleep apnea, Abnormal autonomic nervous system physiology, Respiratory insufficiency, Optic disc ... |
ORPHA:97229 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Hereditary Methemoglobinemia |
|
Exertional dyspnea, Cyanosis |
ORPHA:621 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:601847 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Hyperventilation, Abnormal autonomic nervous system physiology |
OMIM:617903 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent... |
ORPHA:79303 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory insufficiency, Neona... |
ORPHA:95430 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Multiple System Atrophy, Parkinsonian Type |
|
Autonomic erectile dysfunction, Central sleep apnea, Abnormal autonomic nervous system physiology... |
ORPHA:98933 |
Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
Hypermanganesemia With Dystonia 1 |
|
Increased total iron binding capacity, Hypermanganesemia, Hepatomegaly, Unconjugated hyperbilirub... |
OMIM:613280 |
Obesity Due To Sim1 Deficiency |
|
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Buerger Disease |
|
Acrocyanosis |
ORPHA:36258 |
Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Cyanosis, Elevated pulmonary artery pressure, Decreased DLCO, Pleural effusion, Hypox... |
ORPHA:199241 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... |
OMIM:267700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Splenomegaly |
OMIM:266200 |
Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:211600 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:109270 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Respiratory insufficiency, Neonatal death |
OMIM:601612 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Cyanosis, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Apnea, Cyanosis |
OMIM:261680 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Larsen-Like Syndrome, Lethal Type |
|
Respiratory insufficiency, Neonatal death, Tracheomalacia |
OMIM:245650 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Conjugated hyperbilirubinemia, Hepatomegaly, Right ventricular hypertr... |
OMIM:613404 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... |
OMIM:614886 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Hepatomegaly, Hyperbilirubinemia, Atrial septal defect, Hyperammon... |
ORPHA:1667 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Apnea, Abnormal autonomic nervous system physiology, Central hypoventilation, Hypercapnia, Hypoxe... |
OMIM:209880 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Cyanosis, Frontalis muscl... |
ORPHA:98914 |
Pulmonary Arteriovenous Malformation |
|
Hemothorax, Pleural empyema, Cyanosis, Cough, Hypoxemia, Dyspnea, Telangiectasia, Pulmonary arter... |
ORPHA:2038 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypercholesterolemia, In... |
OMIM:619662 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinem... |
OMIM:613673 |
Multiple System Atrophy, Cerebellar Type |
|
Autonomic erectile dysfunction, Central sleep apnea, Abnormal autonomic nervous system physiology... |
ORPHA:227510 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron |
ORPHA:98870 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hepatomeg... |
ORPHA:14 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated ... |
OMIM:608836 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:64743 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:288 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperb... |
OMIM:208085 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Tetanus |
|
Autonomic bladder dysfunction, Respiratory distress, Abnormal autonomic nervous system physiology... |
ORPHA:3299 |
Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis, Death in infancy |
OMIM:602473 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Splenomegaly, Abnormal blood potassium concentratio... |
ORPHA:3202 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Cyanosis, Respiratory insufficiency, Tachyp... |
ORPHA:60025 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95716 |
Fumarase Deficiency |
|
Optic atrophy, Hyperbilirubinemia |
OMIM:606812 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... |
OMIM:603553 |
Refsum Disease, Classic |
|
Retinal degeneration, Rod-cone dystrophy, Elevated levels of phytanic acid, Cardiomyopathy, Cardi... |
OMIM:266500 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:224120 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
ORPHA:822 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:555874 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Optic atrophy, ... |
OMIM:259720 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia, Sple... |
OMIM:300908 |
Chiari Malformation Type Ii |
|
Cyanosis, Inspiratory stridor |
OMIM:207950 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Cyanosis, Crackles, Elevated pulmonary artery pressure, Tachypnea,... |
ORPHA:1329 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau... |
ORPHA:3008 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Criss-Cross Heart |
|
Respiratory insufficiency, Cyanosis |
ORPHA:1461 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Cough |
OMIM:614575 |
Fatal Familial Insomnia |
|
Apnea, Abnormal autonomic nervous system physiology |
OMIM:600072 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperalaninemia, Hepatomegaly, Hyperuricemia |
ORPHA:348 |
Sepsis In Premature Infants |
|
Petechiae, Cyanosis, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purp... |
ORPHA:90051 |
Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Patent foramen ovale |
ORPHA:293939 |
Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Neonatal death, Abnormal auditory evoked p... |
OMIM:600501 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Cystic Echinococcosis |
|
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:400 |
Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Dyspnea, Cyanosis |
ORPHA:439 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Vitreous hemorrhage, Hyperbilirubinemia, Retinal hemorrhage, Hypertrophic cardiomyopathy, Abnorma... |
ORPHA:464321 |
Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Pleural effusion, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:330001 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Hsd10 Disease, Infantile Type |
|
Optic atrophy, Cyanosis |
ORPHA:391428 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Respiratory insufficiency, Cyanosis, Sudden episodic apnea |
ORPHA:159 |
Congenital Fibrinogen Deficiency |
|
Bruising susceptibility, Cyanosis, Subcutaneous hemorrhage |
ORPHA:335 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hypoxemia, Cyanosis, Tachypnea |
ORPHA:860 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:613471 |
Infantile Neuroaxonal Dystrophy |
|
Abnormal autonomic nervous system physiology, Aspiration pneumonia, Apneic episodes in infancy, O... |
ORPHA:35069 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Pulmonary arterial hypertension |
ORPHA:3309 |
Atrial Septal Defect, Ostium Primum Type |
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Airway obstruction, Cyanosis, Abnormal respiratory system physiology, Tachypnea, Dyspnea, Exertio... |
ORPHA:99106 |
Danon Disease |
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Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... |
OMIM:300257 |
Ethylmalonic Encephalopathy |
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Petechiae, Acrocyanosis |
ORPHA:51188 |
Atrial Septal Defect, Ostium Secundum Type |
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Airway obstruction, Cyanosis, Orthopnea, Breathing dysregulation, Pneumonia, Dyspnea, Exertional ... |
ORPHA:99103 |
Parenteral Nutrition-Associated Cholestasis |
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Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug... |
ORPHA:567983 |
Waardenburg Syndrome Type 3 |
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Acrocyanosis, Tracheomalacia |
ORPHA:896 |
Graft Versus Host Disease |
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Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:39812 |
Arnold-Chiari Malformation Type Ii |
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Apnea, Cyanosis, Pneumonia, Inspiratory stridor |
ORPHA:1136 |
Autoimmune Hepatitis |
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Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia |
OMIM:615710 |
Wilson Disease |
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Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, High ... |
OMIM:277900 |
Atrioventricular Septal Defect 3 |
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Cyanosis, Pulmonary arterial hypertension |
OMIM:600309 |
Double Outlet Right Ventricle |
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Cyanosis, Tachypnea |
ORPHA:3426 |
Al Amyloidosis |
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Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Bruising susceptibi... |
ORPHA:85443 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Apnea, Cyanosis |
OMIM:619580 |
Atrial Septal Defect, Coronary Sinus Type |
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Cyanosis, Pneumonia, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension, Increased pulm... |
ORPHA:99104 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... |
OMIM:169500 |
Attrv122I Amyloidosis |
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Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Hereditary Bullous Dystrophy, Macular Type |
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Acrocyanosis, Pneumonia |
ORPHA:1867 |
Ethylene Glycol Poisoning |
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Episodic respiratory distress, Cyanosis, Tachypnea, Abnormal pattern of respiration, Facial palsy |
ORPHA:31826 |
Dravet Syndrome |
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Cyanotic episode |
ORPHA:33069 |
Variant Abeta2M Amyloidosis |
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Abnormal autonomic nervous system physiology |
ORPHA:314652 |
Eosinophilic Granulomatosis With Polyangiitis |
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Asthma, Urticaria, Sinusitis, Cutis marmorata, Respiratory insufficiency, Cough, Purpura, Acrocya... |
ORPHA:183 |
Lissencephaly Due To Lis1 Mutation |
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Neonatal hyperbilirubinemia |
ORPHA:95232 |
Posttransplant Acute Limbic Encephalitis |
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Abnormal autonomic nervous system physiology |
ORPHA:163921 |
Indifference To Pain, Congenital, Autosomal Recessive |
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Abnormal autonomic nervous system physiology, Abnormal nerve conduction velocity |
OMIM:243000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Ventricular hypertrophy, Cardi... |
OMIM:618278 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
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Acrocyanosis |
OMIM:614407 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Cyanotic episode |
ORPHA:284417 |
Fabry Disease |
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Abnormal autonomic nervous system physiology, Airway obstruction, Angiokeratoma |
OMIM:301500 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
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Optic neuropathy, Apnea, Cyanosis, Respiratory insufficiency, Optic disc pallor, Death in infancy... |
OMIM:252010 |
Hyperimmunoglobulinemia D With Periodic Fever |
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Urticaria, Purpura, Erythema, Acrocyanosis |
ORPHA:343 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Cyanosis |
ORPHA:3304 |
Hardikar Syndrome |
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Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Pigment... |
OMIM:301068 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology |
OMIM:105210 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Ventricular septal defect, Hypocalcemia, Atrial septal defect, Hyperbilirubinemia |
ORPHA:163979 |
Liver Disease, Severe Congenital |
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Increased circulating ferritin concentration, Hypocalcemia, Hepatomegaly, Atrial septal defect, H... |
OMIM:619991 |
Erythermalgia, Primary |
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Abnormal autonomic nervous system physiology |
OMIM:133020 |
Ogden Syndrome |
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Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Hyperbilirubinemia, E... |
OMIM:300855 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level |
ORPHA:90673 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Poor wound healing, Abnormal autonomic nervous system physiology, Postural hypotension with compe... |
OMIM:256800 |
Eosinophilic Fasciitis |
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Acrocyanosis |
ORPHA:3165 |
Caroli Syndrome |
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Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia |
ORPHA:480520 |
Cranioectodermal Dysplasia 2 |
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Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertroph... |
OMIM:613610 |
Caroli Disease |
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Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
ORPHA:53035 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Abnormal autonomic nervous system physiology |
ORPHA:83601 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Telangiectasia, Telangiectasia of the skin, Reduced FEV1/FVC ratio, Miscarriage, Hemothorax, Exer... |
OMIM:187300 |
Meckel Syndrome 14 |
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Cardiorespiratory arrest, Cyanosis, Pneumothorax |
OMIM:619879 |
Poems Syndrome |
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Papilledema, Restrictive ventilatory defect, Pleural effusion, Pulmonary arterial hypertension, A... |
ORPHA:2905 |
Inherited Creutzfeldt-Jakob Disease |
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Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
Lathosterolosis |
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Hepatosplenomegaly, Abnormal circulating cholesterol concentration, Hyperbilirubinemia |
OMIM:607330 |
Hepatocellular Carcinoma |
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Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia |
ORPHA:88673 |
X-Linked Intellectual Disability, Nascimento Type |
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Mitral stenosis, Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, P... |
ORPHA:163956 |
Fructose Intolerance, Hereditary |
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Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia |
OMIM:229600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased sensitivity to hypoxemia, Orthostatic hypotension, Acrocyanosis |
OMIM:223900 |
Acquired Purpura Fulminans |
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Macular purpura, Acrocyanosis |
ORPHA:49566 |
Isolated Biliary Atresia |
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Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
ORPHA:30391 |
Esophageal Atresia |
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Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Absence Of The Pulmonary Artery |
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Nonproductive cough, Cyanosis, Orthopnea, Recurrent pneumonia, Bronchiectasis, Dyspnea, Pulmonary... |
ORPHA:980 |
Unilateral Polymicrogyria |
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Giant somatosensory evoked potentials, Apnea, Cyanosis, Epistaxis |
ORPHA:268943 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
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Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Cyanosis, Wheezing, Upper airway obstruction, Dyspnea |
ORPHA:141127 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
Mirizzi Syndrome |
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Hyperbilirubinemia |
ORPHA:521219 |
Melkersson-Rosenthal Syndrome |
|
Facial palsy, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
Romano-Ward Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:101016 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia, Retinal degeneration |
OMIM:208500 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Erythema, Purpura, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Pearson Marrow-Pancreas Syndrome |
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Hepatomegaly, Hyperbilirubinemia |
OMIM:557000 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Secundum atrial septal defect, Hepatomegaly, Primum... |
OMIM:619534 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Conjugated hyperbilirubinemia |
ORPHA:168577 |
Rett Syndrome |
|
Abnormal pattern of respiration, Abnormal autonomic nervous system physiology |
ORPHA:778 |
Porphyria Variegata |
|
Cutaneous photosensitivity, Abnormal autonomic nervous system physiology, Respiratory paralysis |
ORPHA:79473 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Asthma, Abnormal autonomic nervous system physiology, Central hypoventilation, Cyanosis, Cardiore... |
ORPHA:293987 |
Degcags Syndrome |
|
Hepatomegaly, Atrial septal defect, Dysplastic pulmonary valve, Hyperbilirubinemia, Pulmonic sten... |
OMIM:619488 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis |
ORPHA:488627 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Bicuspid aortic valve, Hyperbilirubinemia, Chorioretinal coloboma |
OMIM:619475 |
Rare Circulatory System Disease |
|
Cyanosis |
ORPHA:98028 |
Tarp Syndrome |
|
Optic atrophy, Apnea, Cyanosis |
ORPHA:2886 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cyanosis, Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Lip telangiectasia, Dysp... |
OMIM:610655 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Autonomic bladder dysfunction |
ORPHA:447896 |
Stuve-Wiedemann Syndrome 1 |
|
Apnea, Abnormal autonomic nervous system physiology, Respiratory insufficiency, Death in infancy,... |
OMIM:601559 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Death in infancy |
OMIM:617478 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... |
ORPHA:90038 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Cyanosis, Cough, Tachypnea |
ORPHA:137675 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Flushing, Abnormal autonomic nervous system physiology, Aspiration |
ORPHA:2131 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:231550 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin level |
OMIM:218700 |
Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology |
OMIM:109150 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Hepatosplenomegaly |
ORPHA:84081 |
Goodpasture Syndrome |
|
Increased DLCO, Cyanosis, Crackles, Tachypnea, Cough, Restrictive ventilatory defect, Exertional ... |
OMIM:233450 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Cyanosis, Conjunctival telangiectasia, Spontan... |
OMIM:600376 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal autonomic nervous system physiology, Aspiration pneumonia, Orthostatic hypotension, Auto... |
ORPHA:99027 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Pitt-Hopkins Syndrome |
|
Sleep apnea, Hyperventilation, Abnormal pattern of respiration, Acrocyanosis, Aganglionic megacolon |
ORPHA:2896 |
Aortic Arch Interruption |
|
Respiratory distress, Exertional dyspnea, Cyanosis, Tachypnea |
ORPHA:2299 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Atrial septal defect, Rod-cone dystrophy |
OMIM:300896 |
Wolfram Syndrome |
|
Optic atrophy, Respiratory insufficiency, Abnormal autonomic nervous system physiology, Central a... |
ORPHA:3463 |
Familial Dysautonomia |
|
Optic atrophy, Orthostatic hypotension, Acrocyanosis |
ORPHA:1764 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Abnormal autonomic nervous system physiology |
ORPHA:478029 |
Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ... |
ORPHA:79277 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Abnormal autonomic nervous system physiology |
ORPHA:300570 |
Yellow Fever |
|
Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Elevated circulating ... |
ORPHA:99829 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Cyanosis, Pulmonary arterial hypertension |
ORPHA:99050 |
Alexander Disease |
|
Respiratory insufficiency, Facial palsy, Sleep apnea, Abnormal autonomic nervous system physiology |
ORPHA:58 |
Trisomy 20P |
|
Abnormal autonomic nervous system physiology |
ORPHA:261318 |
Lambert-Eaton Myasthenic Syndrome |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology |
ORPHA:43393 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology |
ORPHA:247234 |
Young-Onset Parkinson Disease |
|
Abnormal autonomic nervous system physiology |
ORPHA:2828 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Absent brainstem auditory responses, Decreased nerve conduct... |
OMIM:609136 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Cutis marmorata, Acrocyanosis, Optic neuropathy |
OMIM:259900 |
Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Wheezing, Hypoxemia, Exertional dyspnea, Pulmonary arterial hyper... |
ORPHA:97214 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|