| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... |
ORPHA:90103 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Upper limb muscle weakness, Steppage gait, Gait disturbance, Lower limb musc... |
OMIM:616155 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... |
OMIM:620011 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Axonal degeneration, Distal amyotrophy, Falls, Weakness of facial musculatur... |
OMIM:618811 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Spinal muscular atrophy, Camptodactyly... |
OMIM:604320 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Peri... |
OMIM:302800 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Proximal amyotrophy,... |
OMIM:604484 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Short stature, Axonal degeneration, Brac... |
OMIM:162100 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
| Diaminopentanuria |
|
Neurodegeneration, Ataxia |
OMIM:222350 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Short stature, Acute r... |
OMIM:604168 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the in... |
OMIM:614373 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Gait disturbance, Proxima... |
OMIM:608030 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... |
OMIM:300580 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy, Distal amyotrophy |
OMIM:619099 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,... |
ORPHA:438134 |
| 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 |
|
Respiratory distress, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Achilles tendon... |
ORPHA:2596 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... |
OMIM:614399 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Distal amyotrophy, Tip-toe gait, Gait disturbance, Neurodegeneration, Motor axonal neuropathy |
OMIM:615643 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Increased variability i... |
ORPHA:238329 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... |
ORPHA:178464 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Inability to walk, Cerebral atrophy, Axonal loss, Neurodegeneration, ... |
OMIM:617672 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... |
ORPHA:1145 |
| Amyotrophic Lateral Sclerosis 19 |
|
Loss of ambulation, Amyotrophic lateral sclerosis |
OMIM:615515 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Axonal degeneration, Gait ataxia, Abnormal sensory nerve conduction velocity, Gait distur... |
ORPHA:88628 |
| Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... |
OMIM:271150 |
| 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 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Dysmetria, Dysdiadochokinesis, Neurodegeneration, Diff... |
OMIM:612319 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Neurodegeneration, Abnormal autonomic nervous system physi... |
ORPHA:478029 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Centrally nucleated skeletal muscle fibers, Dyspnea, Limb-girdle muscle wea... |
ORPHA:86812 |
| Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis |
OMIM:205250 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
ORPHA:101097 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:616811 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy, Failure to thrive, Optic atrophy |
ORPHA:26792 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Failure to thrive, Flexion contracture, Cerebral cortical atrophy |
OMIM:618201 |
| Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:611895 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro... |
ORPHA:254875 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Skeletal muscle atrophy |
OMIM:617892 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
| Stt3B-Cdg |
|
Cerebellar atrophy, Failure to thrive, Optic atrophy, Respiratory distress |
ORPHA:370924 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy, Failure to thrive |
ORPHA:91130 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... |
OMIM:271225 |
| Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal r... |
ORPHA:803 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... |
ORPHA:50251 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Ce... |
OMIM:256600 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Failure to thrive, Optic atrophy, Respiratory distress |
OMIM:615597 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Ataxia |
OMIM:615889 |
| Perching Syndrome |
|
Respiratory distress, Joint contracture, Camptodactyly |
OMIM:617055 |
| Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal degeneration, Ataxia, Gait apraxia... |
OMIM:615157 |
| Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Proximal amyotrophy, Distal amyotrophy, L... |
OMIM:608627 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Falls, Shuffling... |
ORPHA:412066 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
| Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive |
OMIM:263000 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ... |
ORPHA:139399 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
| De Sanctis-Cacchione Syndrome |
|
Severe short stature, Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy,... |
OMIM:278800 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Neurodegeneration, ... |
OMIM:245200 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers,... |
OMIM:613561 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Respiratory distress, Skeletal muscle atrophy, Corpus callosum atrophy, Cereb... |
OMIM:619272 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Flexion contracture, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Stillbirth, Camptodactyly, Neonatal death, Pulmonary arterial hypertension |
OMIM:619751 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Akinesia, Cerebral atrophy, Neurodegeneration, Abnormal autonomic nervous sys... |
OMIM:300894 |
| Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Flexion contracture, Left ventricular hypertroph... |
OMIM:616733 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic hernia,... |
OMIM:615919 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Obesity |
OMIM:615993 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Respiratory distress, Cerebral atrophy, Myopathy, Brain atrophy, Increased va... |
OMIM:604377 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... |
ORPHA:596 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Abnormal skeletal ... |
ORPHA:142 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Optic atrop... |
OMIM:614298 |
| Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Respiratory distress, Apnea, Optic atrophy, Frontotemporal cerebral atrophy |
ORPHA:79097 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Ankle flexion contracture, Optic atrophy, Knee flexion contracture, Pontoce... |
OMIM:608799 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Flexion contracture, Optic atrophy, Cerebral atrophy, Dysmetria, Neur... |
OMIM:615491 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia |
OMIM:232700 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Failure to thrive, Left ventricular hypertrophy |
OMIM:616974 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Recurrent pneumonia, Fle... |
OMIM:214150 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Reduced forced vital capaci... |
OMIM:164310 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, N... |
OMIM:616239 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
ORPHA:35 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... |
ORPHA:1303 |
| Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation, Brain atrophy, EMG: myopathic abnormalities |
OMIM:620326 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Postnatal growth retardation, Neurodegeneration, Short stature |
OMIM:620210 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Optic atrophy, Congenital contracture |
OMIM:615042 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia, Hypox... |
ORPHA:2140 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:237310 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Gm2 Gangliosidosis, Ab Variant |
|
Postnatal growth retardation, Short stature, Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Optic neuropa... |
ORPHA:909 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy... |
OMIM:211530 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... |
OMIM:610921 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures |
OMIM:620211 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Chore... |
ORPHA:391428 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... |
ORPHA:367 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... |
ORPHA:98915 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
| Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Calf muscle hypertrophy, Respiratory distress |
ORPHA:37612 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Large for gestational age |
ORPHA:45452 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Broad-based gait, Difficulty walking, Neurodegeneration, Gait disturbance |
ORPHA:79244 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Respiratory insufficiency due t... |
OMIM:615512 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Cerebral atrophy |
OMIM:160900 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Calf muscle ... |
OMIM:618733 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Optic atrophy |
ORPHA:79312 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia |
ORPHA:1423 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Choreoathetosis, Neurodegeneration, Ataxia, Hypomimic face |
OMIM:606159 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Failure to thrive, Flexion contracture, Respiratory distress |
ORPHA:544503 |
| Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
| Adrenoleukodystrophy |
|
Neurodegeneration, Lower limb muscle weakness, Limb ataxia, Truncal ataxia |
OMIM:300100 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Cardiomegaly |
OMIM:618838 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Optic atrophy, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, C... |
ORPHA:206436 |
| Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Optic atrophy, Cerebral cortical atrophy, Respiratory distress |
ORPHA:254913 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Hypoglycemia |
OMIM:261750 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Respiratory distress |
ORPHA:89844 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Neurodegeneration, Abnormal autonomic n... |
OMIM:146500 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Acute rhabdomyolysis, Rhabdomyolysis, Optic atrophy, Cerebral atrophy, Gait ataxia, Neuro... |
OMIM:616878 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:261304 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator... |
OMIM:220110 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Brain atrophy, Aspiration pneu... |
ORPHA:314655 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Myopathy, Failure to thrive, Reduced muscle carnitine level |
OMIM:212140 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, ... |
OMIM:610217 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Apnea, Cerebral atrophy,... |
OMIM:618426 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increas... |
OMIM:620278 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor, Failure to thrive |
OMIM:615595 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy |
ORPHA:289916 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Central nervous system degeneration, In... |
ORPHA:447788 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Hypoglycemia |
OMIM:306000 |
| Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Eunuchoid habitus |
ORPHA:98805 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive |
ORPHA:2707 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Myopathy, Neonatal death, Centrally nucleated skeletal muscle fibers |
OMIM:300219 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Contractures of the large joints, Failure to thrive, Optic atrophy |
ORPHA:329178 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Weight loss |
ORPHA:79242 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
| Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,... |
ORPHA:98914 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Respiratory distress, Pneumothorax, Cerebral atrophy, Limb hypertonia |
OMIM:620306 |
| Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Weight loss |
ORPHA:93958 |
| Moebius Syndrome |
|
Respiratory distress, Facial diplegia, Congenital fibrosis of extraocular muscles, Camptodactyly,... |
OMIM:157900 |
| Gm2-Gangliosidosis, Ab Variant |
|
Aspiration, Neurodegeneration, Cerebral atrophy |
OMIM:272750 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Small for gestational age, Pneumonia, Epis... |
ORPHA:26793 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Ataxia, Akinesia, Optic atrophy, Choreoathetosis, Myopathy, Neurodegenerat... |
OMIM:234200 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure |
OMIM:620166 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Macroglossia, Large for gestational age |
ORPHA:226313 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive |
ORPHA:927 |
| Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
| Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Br... |
ORPHA:333 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Asthma, Recurrent pneumonia, Flexion contracture, Macroglossia, Neurodegeneration, T... |
OMIM:309900 |
| Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
| Tetanus |
|
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... |
ORPHA:3299 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Difficulty walking, Optic atrophy, Neurodegeneration, Ataxia |
OMIM:618476 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Left ventricular hypertrophy |
OMIM:618321 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Limb muscle weakness, Cough, Pleural effusion, Cerebral... |
ORPHA:1546 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Flexion contracture, Recurrent pneumonia, Optic atrophy, Macroglossia, Brai... |
OMIM:617303 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Flexion contracture, Optic atrophy |
OMIM:619383 |
| Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
| Chediak-Higashi Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Neurodegeneration, Foot dorsiflexo... |
OMIM:214500 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe... |
ORPHA:17 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Recurrent pneumonia, Flexion contracture, Cerebral atrophy |
OMIM:616271 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Abnormal cranial nerve morphology |
ORPHA:990 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hip contracture, Scapular winging, Limb joint contracture, Shoulder flexion... |
OMIM:620369 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Limb muscle weakness, Hyperventilation |
ORPHA:79241 |
| Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Aplasia/Hypoplasia of t... |
ORPHA:3309 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
| Mucopolysaccharidosis, Type Vii |
|
Severe short stature, Short stature, Diastasis recti, Postnatal growth retardation, Flexion contr... |
OMIM:253220 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive |
OMIM:251000 |
| Japanese Encephalitis |
|
Respiratory distress, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Facial ... |
ORPHA:79139 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Decreased body weight, Neonatal death, Arthrogryposis multiplex cong... |
OMIM:608013 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Failure to thrive |
ORPHA:50810 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Apnea, Optic atrophy,... |
ORPHA:79330 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Failure to thrive, Recurrent pneumonia, Small for gestational age |
OMIM:607143 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Atrophy of the spinal cord, Optic atrophy, Cerebral atr... |
ORPHA:79282 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Flexion contracture, Optic atrophy, Stridor, Macroglossia, Brain atrophy, P... |
ORPHA:505248 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Large for gestational age, Dyspnea, Macroglossia, Pulmonary arterial hypert... |
ORPHA:363705 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Myocardial necrosis, Neonatal respiratory distress, Small for gestational a... |
OMIM:260400 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Episodic respiratory distress, ... |
ORPHA:255210 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Mgat2-Cdg |
|
Respiratory distress, Failure to thrive, Brain atrophy |
ORPHA:79329 |
| Odontochondrodysplasia 1 |
|
Respiratory distress |
OMIM:184260 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
| Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Tracheomalacia |
OMIM:156550 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Decrea... |
ORPHA:1051 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
| Hurler Syndrome |
|
Macroglossia, Flexion contracture, Neurodegeneration, Short stature |
OMIM:607014 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Facial hypotonia, Abnormal autonomic nervous system physiology, Aspi... |
ORPHA:2131 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Myopathy |
OMIM:115197 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Failure to thrive in infancy |
OMIM:612852 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive |
OMIM:251110 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
| Sepsis In Premature Infants |
|
Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi... |
ORPHA:90051 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Neonatal death |
OMIM:231680 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Optic atrophy |
ORPHA:1555 |
| Esophageal Atresia |
|
Respiratory distress, Small for gestational age, Failure to thrive in infancy, Episodic respirato... |
ORPHA:1199 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Facial hypotonia |
ORPHA:438216 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Torticollis, Multiple joint contractures, Repeated pneumothoraces, Respirat... |
ORPHA:536467 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Sinusitis, Pneumonia, Tachypnea |
ORPHA:36234 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Failure to thrive, Decreased number of peripheral ... |
OMIM:256810 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial p... |
ORPHA:37042 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive |
OMIM:251100 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... |
ORPHA:31204 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Cerebral cortical atrophy, Obesity |
ORPHA:177907 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleura... |
ORPHA:3260 |
| Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Rhabdomyolysis, Cough, Hyperventilation |
ORPHA:90068 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress |
OMIM:612863 |
| Adnp Syndrome |
|
Respiratory distress, Aspiration, Truncal obesity, Cerebral atrophy |
ORPHA:404448 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Small for gestational age, Flexion contracture, Joint contracture of the ha... |
OMIM:224690 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
| Q Fever |
|
Respiratory distress, Pneumonia, Weight loss, Cough, Pleural effusion |
ORPHA:781 |
| Nijmegen Breakage Syndrome |
|
Rhabdomyosarcoma, Intrauterine growth retardation, Neurodegeneration, Short stature |
OMIM:251260 |
| Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Weight loss, Cough |
ORPHA:537 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Optic atrophy |
OMIM:123790 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Facial hypotonia, Intrinsic hand muscle atrophy, Decreased body weight, Dec... |
OMIM:615273 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Scimitar Syndrome |
|
Respiratory distress, Abnormal hemidiaphragm morphology, Pneumothorax, Hypoplasia of the diaphrag... |
ORPHA:185 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Torticollis, Broad-based gait, Ataxia, Overweight, Neurofibroma, Obesity, ... |
OMIM:619475 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Nonproductive cough, Rhinitis, Crackles |
ORPHA:319213 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Macroglossia, Myopathy, Pleural effusion |
OMIM:261740 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ... |
ORPHA:3206 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Diffuse cerebral atrophy, Contracture of the distal interphalangeal joint o... |
ORPHA:83617 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon |
ORPHA:210122 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2554 |
| Ethylene Glycol Poisoning |
|
Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration |
ORPHA:31826 |
| Achondroplasia |
|
Respiratory distress, Upper airway obstruction |
OMIM:100800 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93260 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress |
OMIM:300968 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Aganglionic megacolon, Failure to thrive in infancy, Recurrent pneumonia, M... |
ORPHA:798 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Optic atrophy, Lower limb amyotrophy, Upper ... |
OMIM:616268 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan... |
OMIM:114290 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Failure to thrive |
OMIM:617156 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ... |
ORPHA:79404 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Osteoglophonic Dysplasia |
|
Respiratory distress, Failure to thrive, Camptodactyly of finger |
OMIM:166250 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Listeriosis |
|
Respiratory distress, Respiratory failure, Rhabdomyolysis, Pneumonia |
ORPHA:533 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Congenital diaphragmatic hernia, Dyspnea, Respiratory failure, Failure to t... |
ORPHA:2556 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
| Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion |
ORPHA:228123 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Small for gestational age, Optic nerve hypoplasia, Global brain atrophy |
ORPHA:508488 |
| Leptospirosis |
|
Respiratory distress, Papilledema, Rhabdomyolysis, Cough, Pleural effusion |
ORPHA:509 |
| Gitelman Syndrome |
|
Respiratory distress, Failure to thrive, Rhabdomyolysis |
ORPHA:358 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Left ventricular hypertrophy, Exertional dyspnea |
ORPHA:2299 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Small for gestational age, Flexion contracture, Truncal obesity, Failure to... |
OMIM:180849 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Carcinoi... |
ORPHA:805 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring, Obesity |
ORPHA:466943 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Failure to thrive, Small for gestational age, Congenital diaphragmatic hernia |
ORPHA:2255 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Short stature, Ataxia, Flexion contracture, Knee flexio... |
OMIM:259050 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Failure to thrive |
OMIM:306955 |
| Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... |
ORPHA:97214 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Brain atrophy |
ORPHA:480880 |
| Doors Syndrome |
|
Respiratory distress, Optic atrophy, Aspiration pneumonia |
ORPHA:79500 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis |
OMIM:614748 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive in infancy, Myocardial c... |
ORPHA:51608 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Failure to thrive, Recurrent pneumonia, Multiple joint contractures |
ORPHA:99646 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
| Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
| Alström Syndrome |
|
Respiratory distress, Optic disc pallor, Chronic pulmonary obstruction, Recurrent pneumonia, Obes... |
ORPHA:64 |
| Pmm2-Cdg |
|
Respiratory distress, Failure to thrive, Multiple joint contractures, Aspiration pneumonia |
ORPHA:79318 |
