| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Hypotonia |
ORPHA:2680 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Abnormal eating behavior, Abnormal hypotha... |
OMIM:614963 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Intercostal retractions, Cyanosis |
ORPHA:137935 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:607373 |
| Autism |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:209850 |
| Perching Syndrome |
|
Respiratory distress, Cyanosis |
OMIM:617055 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypotonia, Cyanosis |
ORPHA:91130 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy |
OMIM:254120 |
| Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia |
ORPHA:91359 |
| Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea, Cyanotic episode |
OMIM:610992 |
| Dystonia 30 |
|
Compulsive behaviors, Aggressive behavior, Hypothalamic hamartoma, Impulsivity |
OMIM:619291 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Neonatal death |
OMIM:618232 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Central hypoventilation, Nocturnal hypoventilation, Apnea, Hypoventilation, Aganglionic megacolon... |
OMIM:209880 |
| Smith-Magenis syndrome |
|
Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Generalized hypotonia |
OMIM:619099 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Spastic paraplegia, Spasticity, Respiratory distress, Hypotonia, Spastic tetraplegia, Axial hypot... |
OMIM:617977 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cyanosis |
OMIM:263000 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Apnea, Central hypoventilation |
OMIM:619483 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Athabaskan Brainstem Dysgenesis Syndrome |
|
Central hypoventilation |
OMIM:601536 |
| Coasy Protein-Associated Neurodegeneration |
|
Compulsive behaviors, Abnormal thalamus morphology, Cognitive impairment |
ORPHA:397725 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Memory impairment, Motor tics, Cognitive impairment, Dementia, Thalamic calcification |
OMIM:615483 |
| Ullrich Congenital Muscular Dystrophy 2 |
|
Nocturnal hypoventilation, Facial palsy |
OMIM:616470 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Haddad Syndrome |
|
Aganglionic megacolon, Death in infancy, Abnormal autonomic nervous system physiology, Central hy... |
ORPHA:99803 |
| Childhood Disintegrative Disorder |
|
Mental deterioration, Motor deterioration, Social and occupational deterioration, Dementia, Progr... |
ORPHA:168782 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Nocturnal hypoventilation |
OMIM:620326 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Severe muscular hypotonia, Generalized hypotonia |
ORPHA:238329 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... |
OMIM:605809 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth |
OMIM:619751 |
| Congenital Lobar Emphysema |
|
Respiratory distress |
ORPHA:1928 |
| Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation |
OMIM:300673 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy |
OMIM:617270 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea |
ORPHA:141152 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy, Apnea, Central hypoventilation |
OMIM:618233 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Monosodium Glutamate Sensitivity |
|
Dyspnea, Flushing |
OMIM:231630 |
| Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Apnea, Death in infancy, Central hypoventilation |
OMIM:620167 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Apnea, Hypoventilation, Facial palsy |
OMIM:617143 |
| Parasomnia, Sleep Bruxism Type |
|
Bruxism |
OMIM:606840 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Cyanosis, Central apnea, Hypertonia, Dystonia |
ORPHA:71277 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Agitation |
OMIM:617171 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Generalized hypot... |
OMIM:254210 |
| Perry Syndrome |
|
Central hypoventilation |
ORPHA:178509 |
| High Altitude Pulmonary Edema |
|
Cyanosis, Tachypnea, Orthopnea, Dyspnea, Hypoxemia |
ORPHA:330012 |
| Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300495 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy |
OMIM:606053 |
| N-Acetylaspartate Deficiency |
|
Short attention span, Motor stereotypy, Self-mutilation |
OMIM:614063 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Facial palsy, Crani... |
OMIM:211530 |
| Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Polyphagia, Frontotemporal dementia, Motor stereotypy |
OMIM:172700 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation |
OMIM:168605 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Dyspnea |
OMIM:265120 |
| Postpoliomyelitis Syndrome |
|
Hypoventilation |
ORPHA:2942 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608636 |
| Hereditary Methemoglobinemia |
|
Spasticity, Limb dystonia, Cyanosis, Exertional dyspnea, Hypertonia, Spastic tetraplegia |
ORPHA:621 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Dyspnea |
OMIM:267450 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit... |
ORPHA:275864 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Dystonia, Spasticity, Abnormal pattern of respiration |
ORPHA:77260 |
| Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation |
OMIM:620275 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Hypoventilation |
ORPHA:314655 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Laryngomalacia |
|
Respiratory distress |
OMIM:150280 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618709 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Memory impairment, Thalamic calcification, Dysphagia |
OMIM:618317 |
| Ganglioneuroma |
|
Central hypoventilation |
ORPHA:251992 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:300934 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:140896 |
| Laryngotracheoesophageal Cleft |
|
Dyspnea, Aspiration, Cyanosis |
ORPHA:2004 |
| Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:614741 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus, Memory impairment, Dementia, Disinhibition |
OMIM:618193 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea, Axial hypotonia |
ORPHA:1949 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Dystonia, Infantile muscular hypotonia, Hypertonia |
ORPHA:26792 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Generalized neonatal hypotonia |
OMIM:300580 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Frontotemporal dem... |
OMIM:600795 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Opisthotonus, Exertional dyspnea, Cyanosis, Hypertonia |
OMIM:250800 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation |
OMIM:603689 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Self-injurious behavior, Attention deficit hyperactivity disorder, Im... |
OMIM:618929 |
| Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis, Hypertonia |
ORPHA:306 |
| Mogs-Cdg |
|
Optic atrophy, Respiratory distress, Apnea, Hypoventilation, Absent brainstem auditory responses |
ORPHA:79330 |
| Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
| Congenital Myopathy 3 With Rigid Spine |
|
Nocturnal hypoventilation, Facial palsy |
OMIM:602771 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Facial palsy, Exertional dyspnea, Hypoventilation |
ORPHA:98915 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620065 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Aggressive behavior, Attention deficit... |
OMIM:613670 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis |
ORPHA:464453 |
| Immunodeficiency 95 |
|
Respiratory distress |
OMIM:619773 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Frontotemporal dementia, Dysphagia, Disinhibition |
OMIM:612069 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Tachypnea, Nasal flaring, Hypoxemia |
ORPHA:70587 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Hypotonia, Axial hypotonia, Generalized hypotonia |
OMIM:612075 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Erythema, Angioedema |
ORPHA:100057 |
| Cap Myopathy |
|
Facial palsy, Central hypoventilation |
ORPHA:171881 |
| Rabin-Pappas Syndrome |
|
Retinal telangiectasia, Hypoventilation, Optic nerve hypoplasia |
OMIM:620155 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Cyanosis, Death in infancy, Neonatal death, Tachypnea, Exertional dy... |
OMIM:610921 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Optic atrophy, Hypoventilation |
OMIM:606056 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis |
ORPHA:2414 |
| Hypoadrenocorticism, Familial |
|
Apnea, Cyanosis |
OMIM:240200 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Hypotonia, Neonatal hypotonia |
OMIM:614399 |
| Classic Multiminicore Myopathy |
|
Nocturnal hypoventilation |
ORPHA:324604 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Nocturnal hypoventilation, Facial palsy |
OMIM:254090 |
| Muscular Dystrophy, Duchenne Type |
|
Hypoventilation |
OMIM:310200 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Dyspnea, Cyanosis |
ORPHA:1302 |
| Typical Nemaline Myopathy |
|
Nocturnal hypoventilation, Facial palsy, Facial diplegia |
ORPHA:171436 |
| Stevenson-Carey Syndrome |
|
Central hypoventilation |
OMIM:611961 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Mental deterioration, Memory impairment, Short attention span, Dementia, Dy... |
ORPHA:2822 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea |
ORPHA:1832 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Dyspnea, Central apnea, Hyperoxemia |
ORPHA:70589 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Optic atrophy, Hypoventilation |
OMIM:618493 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Hypotonia, Cyanosis |
OMIM:610773 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Nocturnal hypoventilation |
OMIM:607155 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Hyperprolinemia, Type I |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:239500 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Dyspnea, Hypoxemia, Cyanosis |
OMIM:610910 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Dystonia, Rigidity |
ORPHA:240085 |
| Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Abnormal hypothalamus morphology,... |
ORPHA:54595 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Exertional dyspnea, Orthopnea, Cyanosis, Facial palsy |
ORPHA:98913 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Craniofacial dystonia, Hypotonia, Paradoxical respiration |
OMIM:620011 |
| Bethlem Muscular Dystrophy |
|
Hypoventilation |
ORPHA:610 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Poor wound healing, Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Mental deterioration, Thalamic calcification |
OMIM:618824 |
| Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Neonatal death |
OMIM:620203 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Bruxism, Inappropriate laughter, Motor stereotypy, Aggressive behavior |
OMIM:619150 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Hypotonia |
OMIM:616974 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Attention deficit hyperactivity disorder, Hypothalamic hamartoma, Obsessive-compulsive trait |
OMIM:619908 |
| Congenital Laryngeal Web |
|
Respiratory distress |
ORPHA:2374 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Hypoventilation |
ORPHA:70 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Hypotonia, Apnea |
OMIM:614669 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Self-mutilation, Abnormal pituitary gland morphology |
ORPHA:314621 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Neonatal hypotonia |
ORPHA:2596 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Tachypnea, Hypoxemia |
ORPHA:264675 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume, Dysphagia |
OMIM:613668 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:616733 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress |
OMIM:245590 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Asbestos Intoxication |
|
Oxygen desaturation on exertion, Cyanosis, Exertional dyspnea, Dyspnea, Hypoxemia |
ORPHA:2302 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Severe muscular hypotonia, Generalized hypotonia |
OMIM:615042 |
| Slc35A1-Cdg |
|
Respiratory distress, Subcutaneous hemorrhage, Hypoxemia |
ORPHA:238459 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress |
OMIM:619466 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Generalized hypotonia |
ORPHA:254864 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Aspiration, Hypoventilation |
ORPHA:258 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Severe muscular hypotonia, Neonatal hypotonia |
ORPHA:596 |
| Familial Nasal Acilia |
|
Respiratory distress, Dyspnea |
ORPHA:922 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Death in infancy, Abnormal autonomic nervous system physiology, Abnormal pattern of respiration |
ORPHA:168593 |
| Trichotillomania |
|
Compulsive behaviors, Hair-pulling |
OMIM:613229 |
| Neuralgic Amyotrophy |
|
Acrocyanosis |
ORPHA:2901 |
| Choanal Atresia |
|
Respiratory distress, Cyanosis |
ORPHA:137914 |
| Prader-Willi Syndrome |
|
Cutaneous photosensitivity, Hypoventilation |
OMIM:176270 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Decreased motor nerve conduction velocity, Facial paralysis, Hypoventilation |
ORPHA:99949 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Focal dystonia, Progressive extrapyramidal muscular rigidity, Rigidity |
ORPHA:240103 |
| Pleural Mesothelioma |
|
Respiratory distress, Dyspnea |
ORPHA:50251 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypotonia |
OMIM:613561 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Hyperventilation, Apnea, Abnormal autonomic nervous system physiology |
OMIM:617903 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
ORPHA:254875 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Optic atrophy, Death in childhood |
OMIM:615597 |
| Folinic Acid-Responsive Seizures |
|
Spastic tetraparesis, Respiratory distress, Apnea, Hypertonia, Dystonia |
ORPHA:79097 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal autonomic nervous system physiology, Cyanosis, Hypoventilation, Central hypoventilation |
ORPHA:293987 |
| Autism, Susceptibility To, 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608049 |
| Idiopathic Pulmonary Fibrosis |
|
Acrocyanosis, Orthodeoxia, Exertional dyspnea |
ORPHA:2032 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Paroxysmal dyspnea, Infantile muscular hypotonia |
ORPHA:444013 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Apnea, Cyanosis |
OMIM:261680 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Tachypnea, Apnea, Cyanosis |
ORPHA:2257 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia |
ORPHA:178320 |
| Chiari Malformation Type Ii |
|
Opisthotonus, Hypotonia, Cyanosis, Generalized hypotonia |
OMIM:207950 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion, Dysphagia, Cognitive impairment, Motor deterioration, Deme... |
ORPHA:79264 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Neonatal hypotonia |
ORPHA:86812 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Apnea, Hypopnea, Hypoventilation |
OMIM:619482 |
| Stt3B-Cdg |
|
Respiratory distress, Generalized hypotonia |
ORPHA:370924 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
OMIM:617044 |
| Oromandibular Dystonia |
|
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Respiratory distress, Limb dystonia, Lin... |
ORPHA:93958 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hypotonia, Dystonia |
ORPHA:289916 |
| Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Spasticity, Hypopnea, Generalized hypotonia, Respiratory distress, Hypotonia, Apnea, Cyanosis, Hy... |
OMIM:618426 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus, Cognitive impairment, Motor deterioration, Dementia, Dysphagia |
ORPHA:1947 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Motor stereotypy |
OMIM:613886 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae, Generalized hypotonia |
ORPHA:51188 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory distress, Hypotonia, Spasticity, Jaundice |
OMIM:250940 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Apnea, Death in infancy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Trigeminal Neuralgia |
|
Paresthesia, Allodynia, Somatic sensory dysfunction, Cranial nerve compression |
ORPHA:221091 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Neonatal death, Hypotonia, Generalized hypotonia |
OMIM:300219 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Infantile axial hypotonia, Spastic tetraparesis, Cyanotic episode, Hypertonia |
ORPHA:284417 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Generalized hypotonia, Hypotonia, Apnea, Cyanosis, Opisthotonus, Limb hypertonia, Axial hypotonia |
OMIM:619580 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypotonia, Appendicular hypotonia, Axial hypotonia |
OMIM:620166 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Generalized hypotonia, Respiratory distress, Oxygen desaturation on exertion, Hypotonia, Tachypne... |
OMIM:610978 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Hypotonia |
ORPHA:261304 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Confusion, Restlessness |
ORPHA:68 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Hypoxemia, Cyanosis |
ORPHA:747 |
| Encephalopathy, Ethylmalonic |
|
Hypotonia, Acrocyanosis, Petechiae |
OMIM:602473 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:618718 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Hypotonia, Telangiectasia, Generalized hypotonia |
OMIM:608799 |
| Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:97355 |
| Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618906 |
| Tetanus |
|
Respiratory distress, Autonomic bladder dysfunction, Tachypnea, Abnormal autonomic nervous system... |
ORPHA:3299 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Hypotonia, Dystonia, Acrocyanosis, Generalized hypotonia |
OMIM:614407 |
| Isolated Right Ventricular Hypoplasia |
|
Dyspnea, Hypoxemia, Cyanosis |
ORPHA:439 |
| Tubulinopathy-Associated Dysgyria |
|
Attention deficit hyperactivity disorder, Abnormal thalamus morphology |
ORPHA:467166 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hypotonia, Dystonia |
ORPHA:79312 |
| Acute Interstitial Pneumonia |
|
Dyspnea, Tachypnea, Hypoxemia, Cyanosis |
ORPHA:79126 |
| Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Hypotonia, Cyanosis, Dystonia, Spastic diplegia |
ORPHA:391428 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Jaundice, Hypoventilation |
OMIM:203700 |
| Atypical Rett Syndrome |
|
Episodic tachypnea, Abnormal pattern of respiration, Abnormal autonomic nervous system physiology... |
ORPHA:3095 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Motor stereotypy, Hyperactivity |
OMIM:615541 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Mitchell Syndrome |
|
Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:160900 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Hypotonia, Apnea, Cyanosis |
OMIM:617239 |
| Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Respiratory distress, Torticollis |
ORPHA:98805 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Cyanosis, Tachypnea, Dyspnea, Hypoxemia |
OMIM:610913 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Optic atrophy, Tachypnea, Death in infancy |
OMIM:614299 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Infantile muscular hypotonia, Generalized hypotonia |
ORPHA:1145 |
| Alfadhel Syndrome |
|
Spastic paraplegia, Nasal flaring, Axial hypotonia |
OMIM:620655 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Hypotonia, Tachypnea |
ORPHA:79242 |
| Pulmonary Capillary Hemangiomatosis |
|
Dyspnea, Hypoxemia, Exertional dyspnea, Cyanosis |
ORPHA:199241 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Spasticity |
OMIM:618201 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:369873 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Prolonged neonatal jaundice, Neonatal hypotonia |
ORPHA:226313 |
| Shukla-Vernon Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Impulsivity |
OMIM:301029 |
| Dravet Syndrome |
|
Cyanotic episode, Cogwheel rigidity, Infantile muscular hypotonia, Rigidity |
ORPHA:33069 |
| Chitayat Syndrome |
|
Respiratory distress, Generalized hypotonia |
OMIM:617180 |
| Alexander Disease Type I |
|
Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tachypnea, Dyspnea |
ORPHA:60032 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea |
ORPHA:97285 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Hyperventilation, Apnea |
OMIM:229700 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia |
ORPHA:70588 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Self-injurious behavior, Motor stereotypy, Compulsive behaviors, Stereotypical hand wringing |
OMIM:618917 |
| Avian Influenza |
|
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia, Miscarriage |
ORPHA:454836 |
| Joubert Syndrome 8 |
|
Prolonged neonatal jaundice, Hyperventilation, Optic disc pallor |
OMIM:612291 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Tachypnea, Dyspnea, Hypoxemia |
ORPHA:36238 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Abnormal muscle tone |
ORPHA:89844 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Dilated third ventricle, Motor stereotypy, Motor tics |
OMIM:619725 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:212140 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress |
ORPHA:1143 |
| Sepsis In Premature Infants |
|
Neonatal hypotonia, Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura |
ORPHA:90051 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology |
ORPHA:139578 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Spastic paraplegia, Dystonia, Hypotonia |
ORPHA:254913 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Opisthotonus, Bruising susceptibility, Cyanosis |
ORPHA:335 |
| Congenital Myasthenic Syndrome |
|
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... |
ORPHA:590 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Hypotonia, Intermittent hyperventilation, Apneic episod... |
ORPHA:348 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress... |
ORPHA:98914 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Spasticity, Hypertonia, Generalized hypotonia |
ORPHA:544503 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hypotonia, Neonatal hypotonia |
OMIM:615595 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
| Nipah Virus Disease |
|
Respiratory distress |
ORPHA:99825 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Severe muscular hypotonia, Generalized abnormality of skin, Generalized hyp... |
ORPHA:367 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypotonia, Limb dystonia, Irregular respiration |
OMIM:604377 |
| Tetrasomy 5P |
|
Respiratory distress, Cyanosis, Neonatal hypotonia |
ORPHA:3309 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Tachypnea, Hypoxemia |
ORPHA:860 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Nocturnal hypoventilation, Optic nerve hypoplasia |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Nocturnal hypoventilation, Optic nerve hypoplasia |
ORPHA:352665 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Dyspnea |
ORPHA:411703 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Opisthotonus, Hypotonia, Hypertonia |
OMIM:619272 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous sy... |
ORPHA:97229 |
| Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Hypertonia |
ORPHA:37612 |
| Pulmonary Arteriovenous Malformation |
|
Dyspnea, Cyanosis, Hypoxemia, Telangiectasia |
ORPHA:2038 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Generalized hypotonia |
OMIM:271225 |
| Neuroferritinopathy |
|
Frontal lobe dementia, T2 hypointense thalamus, Dysphagia, Cognitive impairment, Subcortical deme... |
ORPHA:157846 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Jaundice, Hypoventilation |
ORPHA:731 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Infantile muscular hypotonia |
ORPHA:927 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Jaundice, Hypotonia, Neonatal death |
OMIM:231680 |
| Rodrigues Blindness |
|
Nasal flaring, Ectodermal dysplasia |
OMIM:268320 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
| Panhypophysitis |
|
Secondary growth hormone deficiency, Polydipsia, Increased circulating prolactin concentration, P... |
ORPHA:95513 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
| Triosephosphate Isomerase Deficiency |
|
Spasticity, Generalized hypotonia, Respiratory distress, Hypotonia, Prolonged neonatal jaundice, ... |
OMIM:615512 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Hypoventilation, Optic nerve hypoplasia |
OMIM:620455 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28 |
|
Respiratory distress |
OMIM:620375 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea |
ORPHA:159 |
| Multiple System Atrophy |
|
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... |
ORPHA:102 |
| Benign Schwannoma |
|
Abnormal cranial nerve morphology, Vestibular schwannoma, Abnormality of the twelfth cranial nerv... |
ORPHA:252164 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypotonia, Apnea, Cyanosis, Hypertonia, Dystonia, Axial hypotonia |
OMIM:620423 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2759 |
| Fatal Familial Insomnia |
|
Apnea, Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:618049 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Tachypnea, Hypertonia |
OMIM:237310 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress |
OMIM:612776 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea |
ORPHA:142 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Progressive languag... |
OMIM:610042 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Opisthotonus, Cyanosis, Hypertonia |
ORPHA:3304 |
| Double Outlet Right Ventricle |
|
Tachypnea, Cyanosis |
ORPHA:3426 |
| Multiple System Atrophy, Parkinsonian Type |
|
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... |
ORPHA:98933 |
| Necrotizing Enterocolitis |
|
Apnea, Cyanosis |
ORPHA:391673 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Tachypnea, Hypoxemia |
ORPHA:555874 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Hypotonia, Hypertonia |
ORPHA:50810 |
| Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:620502 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Spasticity, Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Dystonia, Purpura, Ax... |
OMIM:225750 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Apnea, Hypoventilation |
ORPHA:438213 |
| Fucosidosis |
|
Spasticity, Vascular skin abnormality, Hypotonia, Acrocyanosis, Spastic tetraplegia |
ORPHA:349 |
| Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| New-Onset Refractory Status Epilepticus |
|
Confusion, Cognitive impairment, Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Generalized hypotonia |
OMIM:617895 |
| Ethylene Glycol Poisoning |
|
Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Tachypnea, Facial palsy |
ORPHA:31826 |
| Cach Syndrome |
|
T2 hypointense thalamus, Progressive neurologic deterioration, Dysphagia, Cognitive impairment |
ORPHA:135 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Recurrent hand flapping, Attention deficit hyperactivity disorder, Motor stereotypy, Hyperactivity |
OMIM:617600 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
| Moebius Syndrome |
|
Respiratory distress, Infantile muscular hypotonia |
OMIM:157900 |
| Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal a... |
ORPHA:35069 |
| Cardiogenic Shock |
|
Dyspnea, Cyanosis, Orthopnea, Hypoxemia |
ORPHA:97292 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal thalamus morphology |
ORPHA:404440 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Abnormal temper tantrums, Recurrent hand flapping, Short attention span,... |
ORPHA:449291 |
| 3P25.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Abnormal thalamus morphology |
ORPHA:435638 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Episodic tachypnea, Tachypnea, Infantile muscular hypotonia, Jaundice |
ORPHA:26793 |
| Mercury Poisoning |
|
Respiratory distress, Dystonia, Dyspnea |
ORPHA:330021 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Unilateral Polymicrogyria |
|
Apnea, Cyanosis, Appendicular hypotonia, Spastic tetraplegia, Axial hypotonia |
ORPHA:268943 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Palmoplantar cutis laxa, Central apnea, Neonatal death |
OMIM:616482 |
| Joubert Syndrome 17 |
|
Hyperventilation |
OMIM:614615 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivit... |
OMIM:620242 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Spasticity, Neonatal hypotonia, Respiratory distress, Hypotonia, Opisthotonus, Dystonia |
OMIM:616271 |
| Multiple System Atrophy, Cerebellar Type |
|
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... |
ORPHA:227510 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Severe muscular hypotonia, Dystonia, Facial hypotonia |
ORPHA:438216 |
| Tularemia |
|
Respiratory distress |
ORPHA:3392 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hypotonia |
OMIM:619383 |
| Adenohypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95512 |
| Biotinidase Deficiency |
|
Optic atrophy, Respiratory distress, Apnea, Hyperventilation, Optic neuropathy |
ORPHA:79241 |
| Waardenburg Syndrome Type 3 |
|
Spastic paraplegia, Acrocyanosis |
ORPHA:896 |
| Craniofaciofrontodigital Syndrome |
|
Premature skin wrinkling, Respiratory distress, Hypotonia, Palmoplantar cutis laxa, Prominent sup... |
ORPHA:363705 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Atrial Septal Defect, Ostium Primum Type |
|
Dyspnea, Tachypnea, Exertional dyspnea, Cyanosis |
ORPHA:99106 |
| Infantile Krabbe Disease |
|
Spasticity, Respiratory distress, Infantile axial hypotonia, Opisthotonus, Lower limb spasticity,... |
ORPHA:206436 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hypotonia, Exertional dyspnea, Generalized hypotonia |
OMIM:220110 |
| Complete Atrioventricular Septal Defect |
|
Tachypnea, Intercostal retractions, Cyanosis |
ORPHA:1329 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:618504 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Generalized hypotonia |
ORPHA:488627 |
| Cholera |
|
Hyperventilation, Tachypnea, Palmoplantar cutis laxa, Miscarriage |
ORPHA:173 |
| Spinal Cord Injury |
|
Dysesthesia, Somatic sensory dysfunction, Abnormal autonomic nervous system physiology, Allodynia |
ORPHA:90058 |
| Neurotrophic Keratopathy |
|
Hyperesthesia, Abnormal fifth cranial nerve morphology, Allodynia |
ORPHA:137596 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Optic atrophy, Dyspnea |
ORPHA:2707 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress |
OMIM:606763 |
| Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, Hypoxemia |
ORPHA:60025 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Neonatal death, Opisthotonus, Purpura |
OMIM:608013 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Aspiration, Decreased amplitude of sen... |
OMIM:618733 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Cognitive impairment |
ORPHA:98784 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Generalized hypotonia |
ORPHA:329178 |
| Pallister-Hall-Like Syndrome |
|
Hypothalamic hamartoma, Anterior hypopituitarism |
OMIM:241800 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Agitation |
OMIM:619046 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hypotonia |
OMIM:251000 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Abnormal cranial nerve morphology |
ORPHA:990 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Cognitive impairment, Oral-pharyngeal dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Dyspnea, Exertional dyspnea, Cyanosis |
ORPHA:99104 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Purpura, Urticaria |
ORPHA:343 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Prolonged neonatal jaundice |
OMIM:274150 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:608022 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress |
ORPHA:141083 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:607143 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria |
ORPHA:100050 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hyperventilation, Acrocyanosis, Abnormal pattern of respiration |
ORPHA:2896 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Cyanosis, Death in infancy, Optic disc pallor, Optic neuropathy |
OMIM:252010 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Infantile muscular hypotonia |
ORPHA:2519 |
| Al Amyloidosis |
|
Bruising susceptibility, Postural hypotension with compensatory tachycardia, Abnormal autonomic n... |
ORPHA:85443 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperventilation, Tachypnea |
OMIM:253270 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cyanosis |
OMIM:261740 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Hyperventilation |
OMIM:614325 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Memory impairment, Cognitive impairment, Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| Myasthenia Gravis |
|
Dyspnea, Acrocyanosis |
ORPHA:589 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology, Aspiration, Flushing |
ORPHA:2131 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Dyspnea, Exertional dyspnea, Orthopnea, Cyanosis |
ORPHA:99103 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress |
OMIM:202650 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Limb hypertonia, Axial hypotonia |
OMIM:620306 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:251100 |
| Esophageal Atresia |
|
Respiratory distress, Aspiration, Cyanosis, Episodic respiratory distress |
ORPHA:1199 |
| Variant Abeta2M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Hyperventilation |
ORPHA:420492 |
| Rett Syndrome |
|
Intermittent hyperventilation, Apnea |
OMIM:312750 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Motor stereotypy, Abnormal thalamus morphology, Short attention span |
ORPHA:300570 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hyperventilation, Papilledema |
OMIM:618775 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic er... |
OMIM:169500 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
| Congenital Tracheomalacia |
|
Dyspnea, Apnea, Cyanosis, Intercostal retractions |
ORPHA:95430 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:183900 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
| Childhood Absence Epilepsy |
|
Hyperventilation |
ORPHA:64280 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
OMIM:217980 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Optic atrophy, Death in childhood |
OMIM:617303 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Apnea, Episodic respiratory distress, Dyspnea, Hyperventilation |
ORPHA:255210 |
| Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Orthostatic hypotension due to autonomic dysfunction, Abnormal aut... |
ORPHA:330001 |
| Double Outlet Left Ventricle |
|
Tachypnea, Cyanosis |
ORPHA:3427 |
| Inherited Creutzfeldt-Jakob Disease |
|
Abnormal autonomic nervous system physiology, Vestibular nystagmus |
ORPHA:282166 |
| Tarp Syndrome |
|
Optic atrophy, Apnea, Cyanosis |
ORPHA:2886 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Hypotonia |
OMIM:612863 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| Criss-Cross Heart |
|
Cyanosis |
ORPHA:1461 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Facial palsy, Aspiration, Hypercapnia |
OMIM:164310 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hypotonia |
OMIM:251110 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Conjunctival te... |
OMIM:610655 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea, Cyanosis |
ORPHA:2299 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Kniest Dysplasia |
|
Respiratory distress |
OMIM:156550 |
| Acute Disseminated Encephalomyelitis |
|
Confusion, Aggressive behavior, Mental deterioration, Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Generalized hypotonia |
ORPHA:137888 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Hypotonia, Acrocyanosis, Generalized hypotonia |
OMIM:223900 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Poor wound healing, Postural hypotension with compensatory tachycardia, Abnormal autonomic nervou... |
OMIM:256800 |
| Absence Of The Pulmonary Artery |
|
Dyspnea, Orthopnea, Cyanosis, Hypocapnia |
ORPHA:980 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Hypotonia, Telangiectasia of the skin, Dyspnea, Prematurely aged appearance |
ORPHA:3342 |
| Japanese Encephalitis |
|
Abnormal pattern of respiration, Respiratory distress, Cogwheel rigidity, Opisthotonus, Hypertoni... |
ORPHA:79139 |
| Rett Syndrome |
|
Bruxism, Stereotypical hand wringing, Progressive language deterioration, Motor stereotypy, Agita... |
ORPHA:778 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Tachypnea, Cyanosis |
ORPHA:137675 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in childhood, Death in infancy |
OMIM:620278 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormal thalamus morphology, Cognitive impairment |
ORPHA:2959 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Neonatal hypotonia |
OMIM:617478 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Jaundice, Death in infancy |
OMIM:617156 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telang... |
OMIM:187300 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Optic atrophy |
ORPHA:1555 |
| Farber Disease |
|
Respiratory distress, Spasticity, Infantile muscular hypotonia |
ORPHA:333 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Dyspnea, Cyanosis |
ORPHA:141127 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Facial hypotonia, Infantile muscular hypotonia |
ORPHA:308552 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Abnormal autonomic nervous system physiology |
OMIM:300894 |
| Hyperekplexia 1 |
|
Apnea, Aspiration |
OMIM:149400 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Autonomic bladder dysfunction, Optic atrophy |
ORPHA:447896 |
| Developmental And Epileptic Encephalopathy 2 |
|
Hyperventilation |
OMIM:300672 |
| Neuroblastoma |
|
Respiratory distress, Horner syndrome |
ORPHA:635 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Hypotonia, Prolonged neonatal jaundice, Jaundice, Dystonia |
OMIM:256810 |
| Encephalitis Lethargica |
|
Hyperventilation |
ORPHA:83600 |
| Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Mgat2-Cdg |
|
Respiratory distress, Hypotonia, Generalized hypotonia |
ORPHA:79329 |
| Kasabach-Merritt Phenomenon |
|
Respiratory distress, Purpura, Hypopnea, Petechiae |
ORPHA:2330 |
| Congenital Enterovirus Infection |
|
Respiratory distress |
ORPHA:292 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Self-injurious behavior, Bruxism, Hair-pulling, Aggressive behavior, Motor stereotypy |
OMIM:616393 |
| Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Abnormal autonomic nervous system physiology, Premature skin wrinkling |
OMIM:601559 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Intermittent hyperventilation, Optic disc pallor, Optic nerve hypoplasia |
OMIM:300749 |
| Romano-Ward Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:101016 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
| Aceruloplasminemia |
|
Memory impairment, Cognitive impairment, Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Optic atrophy, Palmoplantar cutis laxa |
OMIM:123790 |
| Achondroplasia |
|
Respiratory distress, Death in infancy |
OMIM:100800 |
| Amyloidosis, Hereditary Systemic 1 |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology |
OMIM:105210 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Purpura, Cutis marmorata, Acrocyanosis, Urticaria |
ORPHA:183 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Self-injurious behavior, Dilated third ventricle, Head-banging, Frequent temper tantrums, Short a... |
OMIM:619575 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
| Fabry Disease |
|
Angiokeratoma, Abnormal autonomic nervous system physiology, Angiokeratoma corporis diffusum |
OMIM:301500 |
| Meckel Syndrome 14 |
|
Cyanosis |
OMIM:619879 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Tachypnea, Ecchymosis |
ORPHA:36234 |
| Familial Dysautonomia |
|
Optic atrophy, Acrocyanosis, Orthostatic hypotension |
ORPHA:1764 |
| Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology |
OMIM:614575 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Generalized hypotonia |
OMIM:300968 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Death in childhood |
OMIM:613848 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Exertional dyspnea, Cyanosis |
ORPHA:99050 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Neonatal hypotonia, Respiratory distress, Hypotonia, Torticollis |
ORPHA:536467 |
| Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology |
OMIM:109150 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
| Transketolase Deficiency |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b... |
ORPHA:488618 |
| Porphyria Variegata |
|
Cutaneous photosensitivity, Abnormal autonomic nervous system physiology |
ORPHA:79473 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:3015 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation |
ORPHA:163681 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Infantile muscular hypotonia, Hypertonia, Dystonia |
ORPHA:17 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Dystonia, Infantile muscular hypotonia |
ORPHA:209905 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Hyperventilation, Apnea |
OMIM:617799 |
| Tay-Sachs Disease |
|
Memory impairment, Dysphagia, Short attention span, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Purpura, Ecchymosis |
ORPHA:319213 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon |
ORPHA:210122 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hypotonia |
OMIM:620369 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Hyperventilation, Central apnea |
ORPHA:522077 |
| Meningioma |
|
Secondary growth hormone deficiency, Transient global amnesia, Memory impairment, Hypothalamic hy... |
ORPHA:2495 |
| Congenital Disorder Of Deglycosylation 2 |
|
Hypothalamic hamartoma, Dysphagia |
OMIM:619775 |
| Poems Syndrome |
|
Papilledema, Acrocyanosis, Plethora |
ORPHA:2905 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:231550 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress |
ORPHA:93259 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Severe muscular hypotonia, Neonatal hypotonia |
ORPHA:177907 |
| Lymphatic Malformation 7 |
|
Respiratory distress |
OMIM:617300 |
| Cocaine Intoxication |
|
Respiratory distress, Hyperventilation, Tachypnea |
ORPHA:90068 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Hyperventilation |
OMIM:618050 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress |
ORPHA:93260 |
| Cryptococcosis |
|
Respiratory distress, Dyspnea, Abnormal cranial nerve morphology |
ORPHA:1546 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Jaundice, Hypotonia |
ORPHA:79282 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Cyanosis |
OMIM:306955 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Exertional dyspnea, Orthopnea, Infantile muscular hypotonia, Facial hypotonia |
ORPHA:365 |
| Adnp Syndrome |
|
Respiratory distress, Infantile muscular hypotonia, Generalized neonatal hypotonia, Hypertonia |
ORPHA:404448 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Decreased thalamic volume |
ORPHA:370959 |
| Wolfram Syndrome |
|
Optic atrophy, Central apnea, Abnormal autonomic nervous system physiology |
ORPHA:3463 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon |
ORPHA:2720 |
| Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Respiratory distress, Cutis marmorata, Vasculitis in the skin, Dyspnea, Urticaria |
ORPHA:3260 |
| Aicardi-Goutières Syndrome |
|
Spasticity, Spastic paraparesis, Extrapyramidal muscular rigidity, Cutis marmorata, Hypertonia, P... |
ORPHA:51 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Urticaria |
ORPHA:37042 |
| Acute Liver Failure |
|
Bruising susceptibility, Abnormal pattern of respiration, Hypocapnia, Jaundice, Hyperventilation |
ORPHA:90062 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Abnormal autonomic nervous system physiology |
ORPHA:478029 |
| Pitt-Hopkins Syndrome |
|
Intermittent hyperventilation |
OMIM:610954 |
| Trisomy 20P |
|
Abnormal autonomic nervous system physiology |
ORPHA:261318 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Hypotonia |
ORPHA:505248 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Short-segment aganglionic megacolon, Decreased nerve conduction velocity, Aganglionic megacolon, ... |
OMIM:609136 |
| Leigh Syndrome |
|
Progressive neurologic deterioration, Dysphagia, Abnormal thalamic MRI signal intensity |
ORPHA:506 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... |
ORPHA:99027 |
| Q Fever |
|
Respiratory distress, Purpura |
ORPHA:781 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Erythema |
ORPHA:537 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Acrocyanosis, Optic neuropathy, Cutis marmorata |
OMIM:259900 |
| Arboleda-Tham Syndrome |
|
Neonatal hypotonia, Generalized hypotonia, Respiratory distress, Hypotonia, Dystonia, Axial hypot... |
OMIM:616268 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Hypotonia, Facial hypotonia |
OMIM:615273 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami |
ORPHA:59315 |
| Young-Onset Parkinson Disease |
|
Abnormal autonomic nervous system physiology |
ORPHA:2828 |
| Listeriosis |
|
Respiratory distress, Jaundice, Miscarriage |
ORPHA:533 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia |
OMIM:305100 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Erythema, Hypotonia, Fragile skin |
OMIM:614748 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology |
ORPHA:247234 |
| Goodpasture Syndrome |
|
Tachypnea, Exertional dyspnea, Cyanosis |
OMIM:233450 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:616840 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress |
OMIM:260400 |
| Eisenmenger Syndrome |
|
Respiratory distress, Hypoxemia, Exertional dyspnea, Cyanosis |
ORPHA:97214 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy |
OMIM:224690 |
| Choreoacanthocytosis |
|
Self-injurious behavior, Phonic tics, Mental deterioration, Head-banging, Bruxism, Short attentio... |
ORPHA:2388 |
| Colchicine Poisoning |
|
Respiratory distress |
ORPHA:31824 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:3206 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Dyspnea, Petechiae, Ecchymosis |
ORPHA:340 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Exertional dyspnea, Prominen... |
ORPHA:740 |
| Primary Hyperoxaluria |
|
Optic disc pallor, Acrocyanosis, Optic atrophy, Cutis marmorata |
ORPHA:416 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:146500 |
| Parkinson Disease, Late-Onset |
|
Abnormal autonomic nervous system physiology |
OMIM:168600 |
| Hydranencephaly |
|
Dysgenesis of the thalamus, Atrophic pituitary gland, Thalamic edema |
ORPHA:2177 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Oral motor hypotonia, Nasal flaring, Infantile muscular hypotonia |
ORPHA:466943 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:453499 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea |
ORPHA:2554 |
| Truncus Arteriosus |
|
Tachypnea, Cyanosis |
ORPHA:3384 |
| Alexander Disease |
|
Facial palsy, Abnormal autonomic nervous system physiology |
ORPHA:58 |
| Parkinsonian-Pyramidal Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:171695 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Paroxysmal dyspnea, Respiratory distress, Cyanosis, Apneic episodes in infancy, Exertional dyspnea |
ORPHA:99125 |
| Tick-Borne Encephalitis |
|
Facial palsy, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphology, Abno... |
ORPHA:297 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Erythema, Dyspnea |
ORPHA:2556 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Dyspnea, Fragile skin |
ORPHA:79404 |
| Postinfectious Vasculitis |
|
Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th... |
ORPHA:48435 |
| Campomelic Dysplasia |
|
Respiratory distress, Hypotonia, Apnea |
OMIM:114290 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Dermatomyositis |
|
Erythema, Shawl sign, V-sign, Hypotonia, Cutaneous photosensitivity, Facial erythema, Telangiecta... |
ORPHA:221 |
| Lambert-Eaton Myasthenic Syndrome |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal autonomic nervous system physiology |
ORPHA:43393 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Motor stereotypy, Dysphagia, Hyperactivity, Hair-pulling |
ORPHA:447997 |
| Pallister-Hall Syndrome |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothalamic hamartoma |
OMIM:146510 |
| Classical Ehlers-Danlos Syndrome |
|
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... |
ORPHA:287 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Bruising susceptibility, Decreased nerve conduction velocity, Apnea, Abnormal autonomic nervous s... |
ORPHA:285 |
| Orofaciodigital Syndrome Type 6 |
|
Hypothalamic hamartoma |
ORPHA:2754 |
| Coccidioidomycosis |
|
Respiratory distress |
ORPHA:228123 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis |
OMIM:212093 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami |
OMIM:619306 |
| Acute Transverse Myelitis |
|
Autonomic bladder dysfunction, Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:139417 |
| Scimitar Syndrome |
|
Respiratory distress |
ORPHA:185 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Generalized abnormality of skin |
ORPHA:805 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Aganglionic megacolon |
ORPHA:798 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress |
OMIM:119600 |
| Neuroleptic Malignant Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:94093 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Hypotonia |
OMIM:180849 |
| Nocardiosis |
|
Respiratory distress, Dyspnea |
ORPHA:31204 |
| Orofaciodigital Syndrome Vi |
|
Hypothalamic hamartoma |
OMIM:277170 |
| Bickerstaff Brainstem Encephalitis |
|
Confusion, Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:93256 |
| Leptospirosis |
|
Respiratory distress, Jaundice, Papilledema |
ORPHA:509 |
| Nmda Receptor Encephalitis |
|
Abnormal sudomotor regulation, Orthostatic tachycardia, Orthostatic hypotension, Abnormal autonom... |
ORPHA:217253 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Cyanosis |
ORPHA:51608 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Fixated interests, Hair-pulling, Polyphagia, Attention deficit hyperacti... |
OMIM:620330 |
| Gitelman Syndrome |
|
Respiratory distress |
ORPHA:358 |
| Microphthalmia, Syndromic 3 |
|
Hypothalamic hamartoma, Anterior pituitary hypoplasia |
OMIM:206900 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Generalized hypotonia |
ORPHA:508488 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Neonatal hypotonia |
ORPHA:2255 |
| Norrie Disease |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Abnormality ... |
ORPHA:649 |
| Coffin-Lowry Syndrome |
|
Hypotonia, Acrocyanosis, Cutis marmorata |
OMIM:303600 |
| Orofaciodigital Syndrome I |
|
Hypothalamic hamartoma |
OMIM:311200 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress |
ORPHA:83617 |
| Doors Syndrome |
|
Respiratory distress, Infantile muscular hypotonia |
ORPHA:79500 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume |
ORPHA:168577 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Generalized abnormality of skin |
ORPHA:95455 |
| Pallister-Hall Syndrome |
|
Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Gonadotropin deficiency... |
ORPHA:672 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis |
ORPHA:216694 |
| Williams Syndrome |
|
Compulsive behaviors, Attention deficit hyperactivity disorder, Overfriendliness, Abnormality of ... |
ORPHA:904 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Infantile muscular hypotonia |
ORPHA:480880 |
| Holoprosencephaly 7 |
|
Panhypopituitarism, Fusion of the left and right thalami |
OMIM:610828 |
| Leprosy |
|
Abnormal seventh cranial physiology, Abnormal autonomic nervous system physiology |
ORPHA:548 |
| Monosomy 22Q13.3 |
|
Bruxism, Hyperactivity, Hair-pulling |
ORPHA:48652 |
| Cornelia De Lange Syndrome 6 |
|
Compulsive behaviors, Hair-pulling |
OMIM:620568 |
| Pallister-Killian Syndrome |
|
Apneic episodes in infancy, Hyperventilation, Stillbirth |
OMIM:601803 |
| Plague |
|
Respiratory distress |
ORPHA:707 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress |
ORPHA:3404 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Generalized hypotonia |
ORPHA:99646 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Neonatal hypotonia |
ORPHA:177910 |
| Pmm2-Cdg |
|
Respiratory distress, Abnormal subcutaneous fat tissue distribution, Axial hypotonia |
ORPHA:79318 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypotonia, Central apnea |
ORPHA:98754 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypotonia, Central apnea |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypotonia, Central apnea |
ORPHA:177901 |
| Alström Syndrome |
|
Respiratory distress, Optic disc pallor, Dorsocervical fat pad |
ORPHA:64 |
