Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft |
OMIM:600251 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Fryns Microphthalmia Syndrome |
|
Facial cleft |
OMIM:600776 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Type II lissencephaly |
OMIM:615041 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Hartnup Disorder |
|
Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms |
OMIM:619470 |
Developmental And Epileptic Encephalopathy 71 |
|
Simplified gyral pattern, Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:239500 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi... |
ORPHA:90117 |
Vacterl Association With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Dysphagia |
OMIM:615348 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Optic atrophy, Ataxia, Aggressive behavior |
OMIM:300983 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors |
OMIM:301107 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft |
OMIM:601357 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Respiratory insufficiency due to muscle weakness, Paucity... |
OMIM:611890 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure, Dysphagia |
OMIM:225753 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... |
OMIM:614399 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Anophthalmia Plus Syndrome |
|
Facial cleft |
ORPHA:1104 |
Acrofacial Dysostosis, Weyers Type |
|
Facial cleft |
ORPHA:952 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft |
OMIM:239800 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Oculomaxillofacial Dysostosis |
|
Facial cleft |
ORPHA:1794 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Respira... |
ORPHA:2590 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft |
OMIM:607597 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Dysphagia |
OMIM:618637 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis... |
OMIM:261600 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure, Dysphagia |
OMIM:613435 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure, Pachygyria, Agenesis of corpus callosum |
ORPHA:168486 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy |
OMIM:274270 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Hyperekplexia 4 |
|
Umbilical hernia, Respiratory failure |
OMIM:618011 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Late... |
OMIM:618291 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Abnormal cortical gyration, Respiratory failure, Dysphagia |
OMIM:616867 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior |
ORPHA:382 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Juvenile Huntington Disease |
|
Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Frontofacionasal Dysplasia |
|
Facial cleft |
ORPHA:1791 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Falls, Aggressive behavior |
ORPHA:2382 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:245400 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Restlessness, Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood |
OMIM:617186 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Aggressive behavior, Gait ataxia, Depression, Steppage gait, Attentio... |
ORPHA:98818 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... |
OMIM:618718 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Oculocerebrocutaneous Syndrome |
|
Facial cleft |
ORPHA:1647 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior |
OMIM:612716 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Dysp... |
OMIM:207950 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Respiratory failure, Anorexia |
OMIM:619386 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure, Dysph... |
OMIM:613954 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Arthrogryposis Multiplex Congenita 6 |
|
Neonatal death, Death in infancy, Respiratory failure, Death in childhood |
OMIM:619334 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Acrofacial Dysostosis, Catania Type |
|
Facial cleft |
ORPHA:1786 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Agenesis of corpus callosum, Apneic episodes precipitated by illness, fatigu... |
OMIM:312170 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus, Respiratory failure |
ORPHA:1861 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure, Pachygyria, Dysphagia |
OMIM:606612 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Polymicrogyria, Respiratory insufficiency |
OMIM:615330 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171433 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior |
OMIM:620023 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... |
ORPHA:2211 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Unilateral Ocular Duplication |
|
Midline facial cleft |
ORPHA:3374 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... |
ORPHA:178320 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Pachygyria |
OMIM:614922 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia |
ORPHA:500180 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Optic atrophy, Aggressive behavior |
ORPHA:369939 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure, Dysphagia |
ORPHA:70472 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol... |
ORPHA:803 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Hydrocephalus, Wheezing, Bronchiectasis, Respira... |
ORPHA:244 |
Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
Mosaic Trisomy 9 |
|
Facial cleft |
ORPHA:99776 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia |
ORPHA:352447 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Dysphagia |
OMIM:618233 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Pulmonar... |
OMIM:616482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Polymicrogyria, Agyria, Respiratory failure |
OMIM:616538 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
3Mc Syndrome 3 |
|
Facial cleft |
OMIM:248340 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure |
OMIM:618240 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Polymicrogyria |
OMIM:610678 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... |
OMIM:605711 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Tachypnea, Degeneration of anterior horn cells, Respiratory failure, Inspiratory stridor, Ventila... |
OMIM:604320 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Cherry red spot of the macula, Inappropriate behavior |
ORPHA:309246 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Lateral ventricle dilatation, Dysphagia, Respiratory failure, Death in childhood |
OMIM:619847 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Cln5 Disease |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... |
ORPHA:228360 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy, Abnormal temper tantrums, Abnormal repetitive mannerisms |
ORPHA:530983 |
Optic Atrophy 11 |
|
Hyperactivity, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Athetosis,... |
OMIM:617302 |
Constricting Bands, Congenital |
|
Facial cleft |
OMIM:217100 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperactivity, Respiratory failure |
ORPHA:363400 |
Snakebite Envenomation |
|
Epistaxis, Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paralysis, Respiratory para... |
ORPHA:449285 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Respiratory failure, Nocturnal hypoventilation |
OMIM:620326 |
Mycophenolate Mofetil Embryopathy |
|
Facial cleft |
ORPHA:268249 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Dysphagia |
ORPHA:98755 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Dysphagia |
OMIM:620166 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... |
ORPHA:168491 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Hyperactivity, Polyphagia |
OMIM:275000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Abnormality of neuronal migration, Respir... |
OMIM:608836 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast... |
ORPHA:209905 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... |
OMIM:620242 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia, Dysphagia |
OMIM:620249 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Dysphagia, Respirator... |
OMIM:607625 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Gray matt... |
ORPHA:26791 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Irritability, Abnormal t... |
ORPHA:449291 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,... |
ORPHA:70 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic s... |
OMIM:615636 |
Bartsocas-Papas Syndrome 1 |
|
Facial cleft |
OMIM:263650 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Respiratory failure |
ORPHA:1194 |
Treacher-Collins Syndrome |
|
Facial cleft |
ORPHA:861 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... |
OMIM:610042 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Rod-cone dystrophy, Dense calvaria, Dysphagia |
OMIM:252930 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dysphagia,... |
OMIM:610217 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
Frontonasal Dysplasia 2 |
|
Tessier number 13 facial cleft |
OMIM:613451 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension, Respirato... |
ORPHA:258 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
Acromelic Frontonasal Dysostosis |
|
Midline facial cleft |
OMIM:603671 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi... |
OMIM:620278 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking |
ORPHA:100924 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Stillbirth, Respiratory failure |
OMIM:259720 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea |
ORPHA:444013 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Ataxia, Akinesia, Retinal degeneration, Optic atrophy, Phonic tics, Depression, Ch... |
OMIM:234200 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171430 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... |
OMIM:220110 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Facial cleft |
ORPHA:306542 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Respiratory failure, Pneumonia |
ORPHA:98905 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... |
OMIM:617248 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Dys... |
ORPHA:496641 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Anorexia, Respiratory failure, Agitation, Dys... |
ORPHA:2912 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Dysphagia |
OMIM:617301 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Macrogyria |
ORPHA:280210 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Fraser Syndrome 1 |
|
Facial cleft |
OMIM:219000 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure |
OMIM:614862 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Dysgyria |
OMIM:620327 |
Leigh Syndrome |
|
Respiratory failure, Agenesis of corpus callosum, Abnormal pattern of respiration, Dysphagia |
ORPHA:506 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... |
ORPHA:805 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... |
ORPHA:308552 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure, Pneumothorax |
ORPHA:445038 |
Holoprosencephaly 1 |
|
Facial cleft |
OMIM:236100 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Respiratory failure, Large placenta |
ORPHA:254528 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Dysphagia, Hypoxemia, Respiratory ... |
ORPHA:2020 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... |
ORPHA:31204 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity, Ataxia |
OMIM:620047 |
Riddle Syndrome |
|
Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa... |
ORPHA:420741 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Congenital Tricuspid Valve Dysplasia |
|
Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea |
ORPHA:555874 |
Argininemia |
|
Irritability, Hyperactivity, Spastic gait, Anorexia |
OMIM:207800 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... |
ORPHA:340 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Agenesis of corpus callosum |
ORPHA:2556 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Large placenta, Spinal dysraphism, Restrictive ventilatory defect, Respiratory failu... |
ORPHA:96334 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Death in infancy, Lateral ventricle dilatation, Respiratory failure |
OMIM:300868 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Facial cleft |
ORPHA:93271 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:252010 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Recurrent pneumonia, Abnormality of neuronal migration, Attention deficit hy... |
ORPHA:647 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Tachypnea, Respiratory insufficiency, Death in childhood |
OMIM:618278 |
Otopalatodigital Syndrome, Type Ii |
|
Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbilica... |
OMIM:304120 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure |
ORPHA:679 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation |
ORPHA:99819 |
Costello Syndrome |
|
Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia |
OMIM:218040 |
Bloom Syndrome |
|
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure |
ORPHA:125 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure |
ORPHA:158687 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Listeriosis |
|
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia |
ORPHA:533 |
Niemann-Pick Disease Type C |
|
Aggressive behavior, Respiratory insufficiency, Dysphagia, Respiratory failure, Disinhibition, Co... |
ORPHA:646 |
Steinert Myotonic Dystrophy |
|
Respiratory failure requiring assisted ventilation, Oral-pharyngeal dysphagia, Respiratory insuff... |
ORPHA:273 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema |
OMIM:613658 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Simplified gyral pattern, Lateral ventricle dilatation, Respiratory f... |
ORPHA:500150 |
Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Polydipsia |
ORPHA:731 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Aggressive behavior, Inability to walk, Phonic tics, Attention deficit hyperactivity disorder, Dy... |
OMIM:616973 |
Craniofacial Microsomia 1 |
|
Transverse facial cleft |
OMIM:164210 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Polymicrogyria |
ORPHA:488613 |
Leukemia, Acute Lymphoblastic |
|
|
OMIM:613065 |
Myelodysplastic Syndrome |
|
|
OMIM:614286 |