| Charcot-Marie-Tooth Disease Type 2B1 |
|
Inability to walk, Sensory axonal neuropathy, Steppage gait, Shoulder girdle muscle atrophy, Clus... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Steppage... |
OMIM:614436 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Respiratory insufficiency, Abnormality of peripheral nerve conduction, Amyotrophy of ankle muscul... |
ORPHA:90103 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:606482 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Lower limb muscle weakness, Gait disturbance, Steppage gait, Foot dorsiflexor weakness, Upper lim... |
OMIM:616155 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, Diaphragmatic eventration, Parado... |
OMIM:620011 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Internally nucleated ske... |
OMIM:618138 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... |
OMIM:602433 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Falls, Hand muscle atrophy, Failure to thrive, Weakness of facial musculature, Foot dorsiflexor w... |
OMIM:618811 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... |
OMIM:604320 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Tip-toe gait, Dista... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Decreased motor nerve conduction velocity, Peripheral axonal ... |
OMIM:601596 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Knee flexion contracture, Decreased number of peripheral myelinated nerve fibers, Decreased muscl... |
OMIM:615490 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Gait... |
OMIM:604484 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Amyotrophy, Hereditary Neuralgic |
|
Short stature, Peripheral axonal degeneration, Brachial plexus neuropathy, Skeletal muscle atroph... |
OMIM:162100 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Short stature, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia,... |
OMIM:604168 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Truncal ataxia, Peripheral axonal degeneration, Limb ataxia, Ataxia, Loss of ambulat... |
OMIM:208920 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:610951 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Weakness of the intrinsic hand muscles, Amyotrophic lateral sclerosis, Lower ... |
OMIM:614373 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Proximal amyotrophy, Gait disturbance, Amyotrophic later... |
OMIM:608030 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Decreased body weight, Type 1 fibers relatively smaller than type 2 fibers, Respiratory distress,... |
OMIM:300580 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Gait ataxia, Short stature, Congenital diaphragmatic hernia, Absent pubertal growth spurt, Cerebe... |
ORPHA:438134 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Peripheral axonal neuropathy, Respiratory distress |
OMIM:619099 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Myopathy And Diabetes Mellitus |
|
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... |
ORPHA:2596 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Tip-toe gait, Motor axonal neuropathy, Gait disturbance, Distal amyotrophy, Neurodegeneration |
OMIM:615643 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Camptodactyly of finger, Increased variability in muscle fiber diamete... |
OMIM:614399 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aspiration pneumonia, Weight loss, Respiratory distress, Upper airway obstruction, Dyspnea |
ORPHA:141152 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... |
ORPHA:178464 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Respiratory distress, ... |
ORPHA:238329 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Decreased body weight, Inability to walk, Axonal loss, Ataxia, Cerebra... |
OMIM:617672 |
| Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Small for gestational age, Abnormal respiratory system physio... |
ORPHA:70589 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory insufficiency, Knee flexion contracture, Hip contracture, Spinal muscular atrophy, De... |
ORPHA:1145 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Gait ataxia, Abnormal sensory nerve conduction velocity, Abnormality of peripheral nerves, Gait d... |
ORPHA:88628 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:612577 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dysdiadochokinesis, Optic atrophy, Ataxia, Dysmetria, Difficulty walking, Cerebellar atrophy, Atr... |
OMIM:612319 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... |
OMIM:605809 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Abnormal autonomic nervous system physiology, Diffuse cerebellar atrophy, O... |
ORPHA:478029 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:205200 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... |
OMIM:254210 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Flexion contracture, Proximal muscle weakness in lower limbs, Axonal l... |
ORPHA:101097 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... |
ORPHA:86812 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Amyotrophic Lateral Sclerosis 9 |
|
Distal amyotrophy, Amyotrophic lateral sclerosis |
OMIM:611895 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Global brain atrophy, Optic atrophy, Optic neuropathy, Cerebellar atrophy, Axonal degeneration |
OMIM:616811 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Myopathy, Respiratory distress, Optic atrophy |
ORPHA:26792 |
| Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Cerebral cortical atrophy, Flexion contracture, Respiratory distress |
OMIM:618201 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Spinal muscular atrophy, Ventilator dependence with inability to wean,... |
ORPHA:254875 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Hippocampal atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy |
OMIM:617892 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia... |
ORPHA:411593 |
| Stt3B-Cdg |
|
Cerebellar atrophy, Failure to thrive, Respiratory distress, Optic atrophy |
ORPHA:370924 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ventilator dependence with inability to wean, Respiratory distress, Macroglossia, Myopathy, Incre... |
ORPHA:254864 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Decreased muscle mass, Generalized amyotrophy, Degeneration of anterior horn... |
OMIM:271225 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Myopathy, Respiratory distress |
ORPHA:91130 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Failure to thrive, Respiratory distress, Optic atrophy |
OMIM:615597 |
| Pleural Mesothelioma |
|
Weight loss, Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dysp... |
ORPHA:50251 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Failure to thrive, Upper ai... |
ORPHA:60032 |
| Perching Syndrome |
|
Joint contracture, Camptodactyly, Respiratory distress |
OMIM:617055 |
| Amyotrophic Lateral Sclerosis 20 |
|
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis |
OMIM:615426 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615889 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... |
ORPHA:264675 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Muscle fiber splitting, Flexion contracture, Muscular dystrophy, Shoulder girdle muscle weakness,... |
OMIM:603511 |
| Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Abnormal respiratory system physiology, Dyspnea, Amyotrophic lateral sclero... |
ORPHA:803 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Failure ... |
ORPHA:91359 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Cerebral cortical atrophy, Dysdiadochokinesis, Peripheral axonal degen... |
OMIM:615157 |
| Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Weight loss, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory def... |
ORPHA:1302 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... |
ORPHA:1143 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Cough, Respiratory failure, Tachypnea |
OMIM:263000 |
| Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress |
OMIM:254120 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hypoglycemia, Hepatomegaly |
OMIM:615158 |
| Adrenomyeloneuropathy |
|
Abnormality of central somatosensory evoked potentials, Spastic gait, Peripheral axonal degenerat... |
ORPHA:139399 |
| Laryngotracheal Angioma |
|
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
| De Sanctis-Cacchione Syndrome |
|
Global brain atrophy, Optic atrophy, Choreoathetosis, Ataxia, Severe short stature, Scissor gait,... |
OMIM:278800 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Motor neuron atrophy, Frontotemporal cerebral atrophy, Falls, Shuffling gait, Short stepped shuff... |
ORPHA:412066 |
| Krabbe Disease |
|
Optic atrophy, Diffuse cerebral atrophy, Failure to thrive, Decreased nerve conduction velocity, ... |
OMIM:245200 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Flexion contracture, Short stature, Ataxia, Cerebellar atrophy, Unsteady gait, Neurodegeneration |
OMIM:615919 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Weight loss, Respiratory distress, Chronic pulmonary obstruction, P... |
ORPHA:411703 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Generalized amyotrophy, Respiratory distress, Failure to thrive, Ragged-red muscle fibers, Respir... |
OMIM:613561 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Ataxia, Neuronal loss in central nervous system, Decreased nerve conduction veloci... |
OMIM:256600 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Failure to thrive, Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress, Flexion contracture |
ORPHA:77260 |
| Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Stillbirth, Neonatal death |
OMIM:619751 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Cerebral cortical atrophy, Respiratory distress, Failure to thri... |
OMIM:619272 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
| Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells |
OMIM:617839 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Small for gestational age, Left ventricular hypertrophy, Respiratory distres... |
OMIM:616733 |
| Bardet-Biedl Syndrome 16 |
|
Obesity, Respiratory distress |
OMIM:615993 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased variability in muscle fiber diameter, Brain atrophy, Irregular respiration, Respiratory... |
OMIM:604377 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Weight loss, Respiratory distress, Upper airway obstruction,... |
ORPHA:142 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
| Amyotrophic Lateral Sclerosis 8 |
|
Neuronal loss in central nervous system, Loss of ambulation, Skeletal muscle atrophy, Amyotrophic... |
OMIM:608627 |
| X-Linked Centronuclear Myopathy |
|
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... |
ORPHA:596 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Optic atrophy, Muscular dystrophy, Camptodactyly, Respiratory distress,... |
OMIM:608799 |
| Folinic Acid-Responsive Seizures |
|
Frontotemporal cerebral atrophy, Optic atrophy, Respiratory distress, Apnea, Cerebellar atrophy |
ORPHA:79097 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Flexion contracture, Optic atrophy, Ataxia, Dysmetria, Loss of ambulation, Cerebral atrophy, Cere... |
OMIM:615491 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Motor axonal neuropathy, Gait disturbance, Ataxia, Abnormal lower motor neuron mor... |
OMIM:614298 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea |
OMIM:267450 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hepatomegaly |
OMIM:232700 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Respiratory distress, Weight loss |
OMIM:612075 |
| Angioedema, Hereditary, 1 |
|
Axonal degeneration, Peripheral axonal neuropathy |
OMIM:106100 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Failure to thrive, Left ventricular hypertrophy, Respiratory distress |
OMIM:616974 |
| Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Brain atrophy, Joint contracture of the hand, Smal... |
OMIM:214150 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Failure to thrive, Respiratory distress |
OMIM:300934 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Abnormal autonomic nervous system physiology, Cerebral atrophy, Cerebellar atrophy, Neu... |
OMIM:300894 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Ragged-red muscle fibers, Neuronal loss in central nervous system, Weakness of fac... |
OMIM:616239 |
| Propionic Acidemia |
|
Hypoglycemia, Hepatomegaly, Cardiomyopathy |
ORPHA:35 |
| Oculopharyngodistal Myopathy 1 |
|
Increased variability in muscle fiber diameter, Brain atrophy, Weight loss, Aspiration, Facial pa... |
OMIM:164310 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... |
ORPHA:1303 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Neonatal respiratory distress, Respiratory distress, Optic atrophy, Congenital contracture |
OMIM:615042 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Respiratory distress |
OMIM:617977 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Nocturnal hypoventilation, Hand muscle atrophy, Respiratory distress, ... |
OMIM:211530 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis |
OMIM:619466 |
| Congenital Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia, Hypoxemia, Respiratory distress, Aplasia/Hypoplasia of the diaph... |
ORPHA:2140 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress |
OMIM:237310 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Interstitial pneumoni... |
OMIM:610913 |
| Cerebrotendinous Xanthomatosis |
|
Global brain atrophy, Tendon xanthomatosis, Abnormality of somatosensory evoked potentials, Optic... |
ORPHA:909 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory failure, Exertional dyspnea, Hypoxemia, Respiratory distress, Apnea, Failure to thriv... |
OMIM:610921 |
| Gm2 Gangliosidosis, Ab Variant |
|
Short stature, Neurodegeneration, Cerebral atrophy, Postnatal growth retardation |
ORPHA:309246 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly |
ORPHA:664 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Flexion contracture, Abnormal muscle glycogen content, Respiratory dis... |
ORPHA:367 |
| Multiple Carboxylase Deficiency |
|
Limb muscle weakness, Respiratory distress, Optic atrophy, Tachypnea |
ORPHA:148 |
| Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea |
ORPHA:922 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Axial muscle stiffness, Respiratory distress |
ORPHA:240085 |
| Idiopathic Neonatal Atrial Flutter |
|
Large for gestational age, Respiratory distress, Tachypnea |
ORPHA:45452 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Respiratory distress, Failure to thrive, Myopathy, Skeletal muscle atr... |
OMIM:615512 |
| Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Respiratory distress, Calf muscle hypertrophy |
ORPHA:37612 |
| Hsd10 Disease, Infantile Type |
|
Frontotemporal cerebral atrophy, Optic atrophy, Choreoathetosis, Diffuse cerebral atrophy, Loss o... |
ORPHA:391428 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Respiratory distress, Cerebral atrophy |
OMIM:160900 |
| Neuromuscular Oculoauditory Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Aspiration, Calf muscle hypertrophy, Decreas... |
OMIM:618733 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural effusion, Dysp... |
ORPHA:36238 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Respiratory distress, Optic atrophy |
ORPHA:79312 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Auriculocondylar Syndrome 2 |
|
Apnea, Snoring, Respiratory distress |
OMIM:614669 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Gait disturbance, Neurodegeneration, Difficulty walking, Broad-based gait |
ORPHA:79244 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Hypomimic face, Choreoathetosis, Neurodegeneration, Ataxia |
OMIM:606159 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Failure to thrive, Flexion contracture, Respiratory distress |
ORPHA:544503 |
| Adrenoleukodystrophy |
|
Truncal ataxia, Limb ataxia, Neurodegeneration, Lower limb muscle weakness |
OMIM:300100 |
| Avian Influenza |
|
Pneumothorax, Rhabdomyolysis, Productive cough, Hypoxemia, Respiratory distress, Pleural effusion... |
ORPHA:454836 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Respiratory distress, Chronic pulmonary obstruction, Pleural eff... |
ORPHA:2414 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia |
OMIM:618838 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hepatomegaly |
OMIM:261750 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Respiratory distress |
ORPHA:89844 |
| Infantile Krabbe Disease |
|
Optic atrophy, Cachexia, Respiratory distress, Diffuse cerebral atrophy, Failure to thrive, Decre... |
ORPHA:206436 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Optic atrophy, Respiratory distress, Respiratory failure, Tachypnea |
OMIM:614299 |
| Thyroid Lymphoma |
|
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor |
ORPHA:97285 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Exertional dyspnea, Optic atrophy, Respiratory distress, Increased intramyocellular lipid droplet... |
OMIM:220110 |
| Acute Lung Injury |
|
Hypoxemia, Respiratory distress, Dyspnea, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:178320 |
| Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pneumothorax, Hypoxemia, Respiratory distr... |
ORPHA:70588 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:261304 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Gait ataxia, Dysdiadochokinesis, Optic atrophy, Dysmetria, Cerebral atrophy, Cerebellar atrophy, ... |
OMIM:610217 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Gait ataxia, Rhabdomyolysis, Optic atrophy, Gait disturbance, Ataxia, Acute rhabdomyolysis, Cereb... |
OMIM:616878 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
| Multiple System Atrophy 1, Susceptibility To |
|
Abnormal autonomic nervous system physiology, Ataxia, Skeletal muscle atrophy, Orthostatic hypote... |
OMIM:146500 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Global brain atrophy, Respiratory distress, Apnea, Failure to thrive, Cerebellar atrophy, Hypopne... |
OMIM:618426 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Myopathy, Reduced muscle carnitine level, Respiratory distress |
OMIM:212140 |
| Congenital Myasthenic Syndrome |
|
Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Central sleep a... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Episodic respiratory distress, Limb-girdle muscle weakness, Muscle fiber atrophy, Central sleep a... |
ORPHA:98914 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Hypoventilation, Aspiration pneumonia, Brain atrophy, Respiratory distress, Apnea, Recurrent pneu... |
ORPHA:314655 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Asthma, Hypoxemia, Respiratory distress, Oxygen desaturation on exertion, Crackles, Restrictive v... |
OMIM:610978 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy |
ORPHA:289916 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Increased variability in muscle fiber diameter, Respiratory distress, Stridor |
OMIM:615595 |
| Cerebral Visual Impairment |
|
Optic atrophy, Optic nerve hypoplasia, Central nervous system degeneration, Optic disc pallor, Ne... |
ORPHA:447788 |
| Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Asthma, Macroglossia, Recurrent pneumonia, Airway obs... |
OMIM:309900 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Splenomegaly, Hepatomegaly |
OMIM:306000 |
| Leigh Syndrome With Cardiomyopathy |
|
Global brain atrophy, Optic atrophy, Respiratory distress, Apnea, Failure to thrive, Central hypo... |
ORPHA:70474 |
| Nipah Virus Disease |
|
Cough, Respiratory distress |
ORPHA:99825 |
| Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Immotile cilia, Respiratory distress, Sinusitis, Ciliary dyskinesia |
OMIM:606763 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Respiratory distress, Failure to thrive, Dyspnea, Respiratory failure |
ORPHA:2707 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Centrally nucleated skeletal muscle fibers, Myopathy, Neonatal death, Respiratory distress |
OMIM:300219 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress, Eunuchoid habitus |
ORPHA:98805 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Weight loss, Tachypnea |
ORPHA:79242 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Failure to thrive, Contractures of the large joints, Respiratory distress, Optic atrophy |
ORPHA:329178 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Oromandibular Dystonia |
|
Torticollis, Respiratory distress, Weight loss |
ORPHA:93958 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Left ventricular hypertrophy, Respiratory distress, Macroglossia, Fail... |
ORPHA:308552 |
| Gm2-Gangliosidosis, Ab Variant |
|
Neurodegeneration, Cerebral atrophy, Aspiration |
OMIM:272750 |
| Moebius Syndrome |
|
Camptodactyly, Respiratory distress, Facial diplegia, Congenital fibrosis of extraocular muscles,... |
OMIM:157900 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Respiratory distress, Macroglossia |
ORPHA:226313 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Episodic tachypnea, Small for gestational age, Exercise-induced rhabdomyolysis, Respiratory distr... |
ORPHA:26793 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:2759 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Upper airway obstruction, Respiratory distress |
ORPHA:100057 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Flexion contracture, Exertional dyspnea, Lower limb muscle weakness, M... |
ORPHA:365 |
| Tetanus |
|
Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Respiratory distress... |
ORPHA:3299 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Neurodegeneration, Difficulty walking, Ataxia |
OMIM:618476 |
| Tularemia |
|
Pleural effusion, Pneumonia, Cough, Respiratory distress |
ORPHA:3392 |
| Slc35A1-Cdg |
|
Pneumonia, Hypoxemia, Respiratory distress |
ORPHA:238459 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Global brain atrophy, Decreased muscle mass, Akinesia, Optic atrophy, Choreoathetosis, Gait distu... |
OMIM:234200 |
| Farber Disease |
|
Respiratory insufficiency, Flexion contracture, Brain atrophy, Respiratory distress, Failure to t... |
ORPHA:333 |
| Congenital Tracheomalacia |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Tracheobronchomalacia, Pneumothorax, ... |
ORPHA:95430 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Respiratory distress |
ORPHA:927 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Splenomegaly, Hepatomegaly |
OMIM:613027 |
| Infant Acute Respiratory Distress Syndrome |
|
Nasal flaring, Hypoxemia, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:70587 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Left ventricular hypertrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:618321 |
| Hypoglossia With Situs Inversus |
|
Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Cryptococcosis |
|
Cerebral cortical atrophy, Respiratory distress, Pleural effusion, Dyspnea, Cough, Abnormal crani... |
ORPHA:1546 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Brain atrophy, Optic atrophy, Respiratory distress, Macroglossia, Recurrent ... |
OMIM:617303 |
| Acquired Methemoglobinemia |
|
Dyspnea, Hypoxemia, Respiratory distress |
ORPHA:464453 |
| Chediak-Higashi Syndrome |
|
Gait disturbance, Ataxia, Decreased nerve conduction velocity, Foot dorsiflexor weakness, Neurode... |
OMIM:214500 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Flexion contracture, Respiratory distress, Optic atrophy |
OMIM:619383 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Respiratory distress, Recurrent pneumonia, Cerebral atrophy, Cerebellar atrophy |
OMIM:616271 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased variability in muscle fiber diameter, Flexion contracture, Rhabdomyolysis, Respiratory ... |
ORPHA:17 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Abnormal cranial nerve morphology, Respiratory distress |
ORPHA:990 |
| Choanal Atresia |
|
Abnormal nasal mucus secretion, Respiratory distress, Chronic sinusitis, Upper airway obstruction... |
ORPHA:137914 |
| Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Intercostal retractions, Paroxysmal dyspnea, Stridor, Episodic respiratory... |
ORPHA:141083 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infancy, Respiratory distre... |
ORPHA:348 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musc... |
ORPHA:3309 |
| Biotinidase Deficiency |
|
Optic atrophy, Respiratory distress, Apnea, Optic neuropathy, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
| Chitayat Syndrome |
|
Tracheomalacia, Respiratory distress |
OMIM:617180 |
| Mucopolysaccharidosis, Type Vii |
|
Flexion contracture, Macroglossia, Airway obstruction, Loud snoring, Obstructive sleep apnea, Neu... |
OMIM:253220 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Respiratory distress |
OMIM:251000 |
| Mercury Poisoning |
|
Respiratory failure, Interstitial pneumonitis, Dyspnea, Respiratory distress |
ORPHA:330021 |
| Gaucher Disease, Perinatal Lethal |
|
Decreased body weight, Respiratory distress, Apnea, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:608013 |
| Mogs-Cdg |
|
Hypoventilation, Optic atrophy, Absent brainstem auditory responses, Left ventricular hypertrophy... |
ORPHA:79330 |
| Japanese Encephalitis |
|
Respiratory paralysis, Irregular respiration, Decreased motor nerve conduction velocity, Paucity ... |
ORPHA:79139 |
| Inhalational Anthrax |
|
Dyspnea, Respiratory distress |
ORPHA:247257 |
| Microlissencephaly-Micromelia Syndrome |
|
Failure to thrive, Respiratory distress |
ORPHA:50810 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Respiratory distress, Central apnea, Respiratory failure, Neonat... |
OMIM:616482 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Optic atrophy, Respiratory distress, Failure... |
ORPHA:79282 |
| Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Large for gestational age, Respiratory distress, Macroglossia, D... |
ORPHA:363705 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia, Respiratory distress |
OMIM:606164 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Intercostal retractions, Crackles, Recurrent pneumonia, Failu... |
ORPHA:1329 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Flexion contracture, Brain atrophy, Optic atrophy, Respiratory d... |
ORPHA:505248 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Shwachman-Diamond Syndrome 1 |
|
Small for gestational age, Respiratory distress, Failure to thrive, Myocardial necrosis, Neonatal... |
OMIM:260400 |
| Mgat2-Cdg |
|
Brain atrophy, Failure to thrive, Respiratory distress |
ORPHA:79329 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Apnea, Failure to thrive, Dyspnea, Ragged-red muscle fibers, Hyperventilation, Epi... |
ORPHA:255210 |
| Odontochondrodysplasia 1 |
|
Respiratory distress |
OMIM:184260 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| Kniest Dysplasia |
|
Tracheomalacia, Hip contracture, Respiratory distress |
OMIM:156550 |
| Ramos-Arroyo Syndrome |
|
Decreased body weight, Abnormal autonomic nervous system physiology, Aganglionic megacolon, Respi... |
ORPHA:1051 |
| Pachyonychia Congenita |
|
Failure to thrive, Respiratory distress |
ORPHA:2309 |
| Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Asthma, Respiratory distress, Recurrent pneumonia, Failure to th... |
ORPHA:209905 |
| Agnathia-Otocephaly Complex |
|
Tracheomalacia, Respiratory distress |
OMIM:202650 |
| Hurler Syndrome |
|
Flexion contracture, Neurodegeneration, Macroglossia, Short stature |
OMIM:607014 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Respiratory distress |
OMIM:612852 |
| Alternating Hemiplegia Of Childhood |
|
Aspiration, Abnormal autonomic nervous system physiology, Respiratory distress, Apnea, Failure to... |
ORPHA:2131 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Myopathy, Dyspnea, Respiratory distress |
OMIM:115197 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
| Diaphanospondylodysostosis |
|
Respiratory insufficiency, Tracheomalacia, Respiratory distress |
OMIM:608022 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Respiratory distress |
OMIM:251110 |
| Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure |
ORPHA:3015 |
| Sepsis In Premature Infants |
|
Decreased body weight, Small for gestational age, Nasal flaring, Abnormal respiratory system phys... |
ORPHA:90051 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Respiratory distress |
OMIM:231680 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Respiratory distress |
OMIM:251100 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Optic atrophy |
ORPHA:1555 |
| Esophageal Atresia |
|
Aspiration, Small for gestational age, Respiratory distress, Chronic pulmonary obstruction, Laryn... |
ORPHA:1199 |
| Auriculocondylar Syndrome |
|
Snoring, Obstructive sleep apnea, Respiratory distress |
ORPHA:137888 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Respiratory distress |
ORPHA:438216 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Sinusitis, Pneumonia, Tachypnea |
ORPHA:36234 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Peripapillary atrophy, Repeated pneumothoraces, Multiple joint contrac... |
ORPHA:536467 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Failure to thrive, Skeletal muscle atroph... |
OMIM:256810 |
| Nocardiosis |
|
Pneumothorax, Productive cough, Weight loss, Respiratory distress, Emphysema, Pleural effusion, D... |
ORPHA:31204 |
| Congenital Enterovirus Infection |
|
Pleural effusion, Respiratory distress |
ORPHA:292 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Neonatal respiratory distress, Tracheomalacia, Respiratory distress |
OMIM:217980 |
| Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Respiratory distress, Morgagni diaphragmatic hernia |
OMIM:613309 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Interstitial pneumonitis, Cachexia, Respiratory distress, Myositis, Pneumonia, Failure to thrive ... |
ORPHA:37042 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Respiratory distress |
ORPHA:2519 |
| Congenital Disorder Of Deglycosylation 1 |
|
Decreased body weight, Central sleep apnea, Respiratory distress, Decreased sensory nerve conduct... |
OMIM:615273 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Asthma, Respiratory distress, Pleural effusion, Failure to thrive, Dyspnea, C... |
ORPHA:3260 |
| Cocaine Intoxication |
|
Pneumothorax, Rhabdomyolysis, Wheezing, Respiratory distress, Cough, Hyperventilation, Tachypnea |
ORPHA:90068 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Joint contracture of the hand, Small for gestational age, Camptodactyly, Res... |
OMIM:224690 |
| Q Fever |
|
Weight loss, Respiratory distress, Pleural effusion, Cough, Pneumonia |
ORPHA:781 |
| Prader-Willi Syndrome Due To Translocation |
|
Obesity, Cerebral cortical atrophy, Respiratory distress |
ORPHA:177907 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Lymphatic Malformation 7 |
|
Pleural effusion, Respiratory distress, Chylothorax |
OMIM:617300 |
| Adnp Syndrome |
|
Truncal obesity, Respiratory distress, Cerebral atrophy, Aspiration |
ORPHA:404448 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration, Intrauterine growth retardation, Short stature, Rhabdomyosarcoma |
OMIM:251260 |
| Hereditary Angioedema Type 1 |
|
Dyspnea, Inspiratory stridor, Respiratory distress |
ORPHA:100050 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Optic atrophy |
OMIM:123790 |
| Toxic Epidermal Necrolysis |
|
Restrictive ventilatory defect, Cough, Respiratory distress, Weight loss |
ORPHA:537 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Macroglossia, Pleural effusion, Apnea, Myopathy |
OMIM:261740 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Arterial Tortuosity Syndrome |
|
Cardiorespiratory arrest, Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:3342 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Restrictive ventilatory defect, Respiratory distress |
OMIM:183900 |
| Hemorrhagic Fever-Renal Syndrome |
|
Decreased body weight, Respiratory distress, Pleural effusion, Epistaxis, Dyspnea, Cough, Respira... |
ORPHA:340 |
| Lujo Hemorrhagic Fever |
|
Crackles, Rhinitis, Nonproductive cough, Respiratory distress |
ORPHA:319213 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Tip-toe gait, Falls, Peripheral demyelination, Torticollis, Neurofibromas,... |
OMIM:619475 |
| Scimitar Syndrome |
|
Pulmonary arterial hypertension, Pneumothorax, Hypoplasia of the diaphragm, Respiratory distress,... |
ORPHA:185 |
| Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Knee flexion contracture, Flexion contracture, Asthma, Abnormal autonomi... |
ORPHA:3206 |
| Osteogenesis Imperfecta, Type X |
|
Recurrent pneumonia, Chronic lung disease, Respiratory distress |
OMIM:613848 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Respiratory distress, Failure to thrive, Dyspnea, Respiratory failure |
ORPHA:2554 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Brain atrophy, Respiratory distress, Diffuse cerebral atrophy, Failure to thrive, Contracture of ... |
ORPHA:83617 |
| Achondroplasia |
|
Upper airway obstruction, Respiratory distress |
OMIM:100800 |
| Ethylene Glycol Poisoning |
|
Facial palsy, Abnormal pattern of respiration, Episodic respiratory distress, Tachypnea |
ORPHA:31826 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Aganglionic megacolon, Respiratory distress |
ORPHA:210122 |
| Pfeiffer Syndrome Type 2 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93259 |
| Pfeiffer Syndrome Type 3 |
|
Tracheomalacia, Respiratory distress |
ORPHA:93260 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
| Arboleda-Tham Syndrome |
|
Upper limb amyotrophy, Optic atrophy, Recurrent aspiration pneumonia, Respiratory distress, Neona... |
OMIM:616268 |
| Schinzel-Giedion Syndrome |
|
Cerebral cortical atrophy, Aganglionic megacolon, Camptodactyly, Respiratory distress, Macrogloss... |
ORPHA:798 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Respiratory distress |
OMIM:617156 |
| Campomelic Dysplasia |
|
Tracheobronchomalacia, Respiratory distress, Apnea, Failure to thrive, Contracture of the distal ... |
OMIM:114290 |
| Osteoglophonic Dysplasia |
|
Failure to thrive, Respiratory distress |
OMIM:166250 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumothorax, Respiratory distress, Failure to thrive, Dyspnea, Stridor, Respiratory failure, Pne... |
ORPHA:79404 |
| Colchicine Poisoning |
|
Cardiorespiratory arrest, Respiratory distress |
ORPHA:31824 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Failure to thrive, Congenital diaphragmatic hernia, Dyspnea, Respiratory fa... |
ORPHA:2556 |
| Listeriosis |
|
Respiratory failure, Pneumonia, Respiratory distress, Rhabdomyolysis |
ORPHA:533 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Neonatal asphyxia, Wheezing |
ORPHA:141127 |
| Coccidioidomycosis |
|
Pleural empyema, Exudative pleural effusion, Respiratory distress, Cough, Pneumonia |
ORPHA:228123 |
| Rubinstein-Taybi Syndrome 1 |
|
Flexion contracture, Small for gestational age, Respiratory distress, Failure to thrive, Truncal ... |
OMIM:180849 |
| Leptospirosis |
|
Rhabdomyolysis, Respiratory distress, Pleural effusion, Cough, Papilledema |
ORPHA:509 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Failure to thrive, Respiratory distress |
ORPHA:358 |
| Aortic Arch Interruption |
|
Left ventricular hypertrophy, Exertional dyspnea, Tachypnea, Respiratory distress |
ORPHA:2299 |
| Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Respiratory distress, Pheochromocytoma, Carcinoid tumor, Respiratory ... |
ORPHA:805 |
| 8Q24.3 Microdeletion Syndrome |
|
Small for gestational age, Global brain atrophy, Respiratory distress, Optic nerve hypoplasia |
ORPHA:508488 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Kasabach-Merritt Syndrome |
|
Hypopnea, Respiratory distress |
ORPHA:2330 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring, Obesity |
ORPHA:466943 |
| Primrose Syndrome |
|
Knee flexion contracture, Flexion contracture, Hip contracture, Short stature, Ataxia, Delayed pu... |
OMIM:259050 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Failure to thrive, Congenital diaphragmatic hernia, Respiratory distress |
ORPHA:2255 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Rhinitis, Respiratory distress |
OMIM:305100 |
| Cleidocranial Dysplasia 1 |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:119600 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Failure to thrive, Respiratory distress |
OMIM:306955 |
| Eisenmenger Syndrome |
|
Pulmonary arterial hypertension, Exertional dyspnea, Hypoxemia, Respiratory distress, Increased p... |
ORPHA:97214 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Brain atrophy, Respiratory distress |
ORPHA:480880 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Rhinitis, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Chroni... |
ORPHA:95455 |
| Doors Syndrome |
|
Aspiration pneumonia, Respiratory distress, Optic atrophy |
ORPHA:79500 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Neonatal respiratory distress, Respiratory distress, Respiratory acidosis |
OMIM:614748 |
| Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Myocardial calcification, Failure to thrive in infancy, Respirat... |
ORPHA:51608 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Pulmonary arterial hypertension, Exertional dyspnea, Apneic episodes in infancy, Respiratory dist... |
ORPHA:99125 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Recurrent pneumonia, Multiple joint contractures, Failure to thrive, Respiratory distress |
ORPHA:99646 |
| Ulbright-Hodes Syndrome |
|
Respiratory failure, Pneumothorax, Respiratory distress |
ORPHA:3404 |
| Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
| Alström Syndrome |
|
Pulmonary arterial hypertension, Optic disc pallor, Recurrent sinusitis, Chronic pulmonary obstru... |
ORPHA:64 |
| Pmm2-Cdg |
|
Failure to thrive, Multiple joint contractures, Aspiration pneumonia, Respiratory distress |
ORPHA:79318 |
