Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Depression, Attention deficit hyperactivity disorder |
OMIM:613003 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autism, Susceptibility To, X-Linked 4 |
|
Impulsivity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:300830 |
Familial Alzheimer-Like Prion Disease |
|
Depression, Anxiety, Attention deficit hyperactivity disorder, Emotional lability |
ORPHA:280397 |
Severe Primary Trimethylaminuria |
|
Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Chorioretinal degeneration, Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Facial Clefting, Oblique, 1 |
|
Facial cleft |
OMIM:600251 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Morm Syndrome |
|
Aggressive behavior, Hyperactivity, Retinal atrophy, Retinal dystrophy |
ORPHA:75858 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Fryns Microphthalmia Syndrome |
|
Facial cleft |
OMIM:600776 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Anxiety, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:619191 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity, Irritability |
OMIM:616657 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Hyperactivity |
OMIM:608747 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Dysphagi... |
ORPHA:266 |
Pandas |
|
Agoraphobia, Abnormal fear/anxiety-related behavior, Impulsivity, Depression, Separation insecuri... |
ORPHA:66624 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Respiratory failure |
OMIM:208081 |
Spinal Muscular Atrophy, Type I |
|
Death in childhood, Respiratory insufficiency, Respiratory failure |
OMIM:253300 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity |
OMIM:300928 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Ataxia, Hyperactivity, Impulsivity |
OMIM:617113 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dysphagia, Dyspn... |
ORPHA:90117 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity |
OMIM:619970 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Broad-based gait, Hyperactivity, Aggressive behavior |
OMIM:619470 |
Vacterl Association With Hydrocephalus |
|
Hydrocephalus, Aqueductal stenosis, Respiratory insufficiency, Respiratory failure, Stillbirth |
OMIM:276950 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:604317 |
Nemaline Myopathy 8 |
|
Dysphagia, Respiratory failure, Death in infancy |
OMIM:615348 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft |
OMIM:601357 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Ataxia, Hyperactivity, Aggressive behavior |
OMIM:300983 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Aggressive behavior, Irritability |
OMIM:605899 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Neonatal death, Abnormal anterior horn cell morphology, R... |
OMIM:611890 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Aggressive behavior |
OMIM:309548 |
Fraxe Intellectual Disability |
|
Impulsivity, Hyperactivity, Aggressive behavior |
ORPHA:100973 |
Pontocerebellar Hypoplasia, Type 4 |
|
Dysphagia, Respiratory failure, Death in infancy |
OMIM:225753 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Hyperactivity |
OMIM:613402 |
Anophthalmia Plus Syndrome |
|
Facial cleft |
ORPHA:1104 |
Acrofacial Dysostosis, Weyers Type |
|
Facial cleft |
ORPHA:952 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Dysphagia, Respi... |
OMIM:614399 |
Hyperprolinemia, Type I |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:239500 |
Phenylketonuria |
|
Hyperactivity, Self-mutilation, Depression, Anxiety, Attention deficit hyperactivity disorder, Ag... |
OMIM:261600 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure |
OMIM:616081 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Polymicrogyria |
OMIM:618291 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Apnea, Central sleep apnea, Neonatal respiratory distress, Pachygyria, Respiratory failure, Agene... |
ORPHA:168486 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft |
OMIM:239800 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Recurrent aspiration pneumonia, Dysphagia, Respiratory fa... |
ORPHA:2590 |
Oculomaxillofacial Dysostosis |
|
Facial cleft |
ORPHA:1794 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft |
OMIM:607597 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Inability to walk, Hyperactivity, Dysmetria |
OMIM:618090 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Dysphagia, Ventilator depen... |
ORPHA:254875 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Dysphagia, Respiratory failure |
OMIM:618637 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Abnormal fear/anxiety-related behavior, Hyperactivity, Shuffling gait, Aggressi... |
ORPHA:3077 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Lennox-Gastaut Syndrome |
|
Personality disorder, Hyperactivity, Aggressive behavior, Falls |
ORPHA:2382 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Dysphagia, Amyotrophic lateral sclerosis, Respiratory failure |
OMIM:613435 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Bipolar affective disorder, Hyperactivity |
OMIM:619927 |
Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:609425 |
Hyperekplexia 4 |
|
Respiratory failure, Umbilical hernia |
OMIM:618011 |
Xq25 Microduplication Syndrome |
|
Anxiety, Hyperactivity |
ORPHA:521258 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory insufficiency, Respiratory failure, Communicating hydrocephalus |
OMIM:273730 |
Landau-Kleffner Syndrome |
|
Hyperactivity, Impulsivity, Depression, Anxiety, Gait ataxia, Attention deficit hyperactivity dis... |
ORPHA:98818 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Athetosis, Aggressive behavior |
ORPHA:382 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Progressive cerebellar ataxia, Hyperactivity, Depression, Gait ataxia, ... |
ORPHA:248111 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:228940 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Frontofacionasal Dysplasia |
|
Facial cleft |
ORPHA:1791 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:605711 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Dysphagia, Respiratory failure, Abnormal cortical gyration |
OMIM:616867 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:616277 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Neonatal respira... |
OMIM:245400 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Self-injurious behavior, Hyperactivity, Inappropriate behavior, Self-biting, Nail-biting, Attenti... |
OMIM:619827 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress |
OMIM:619057 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Hyperactivity |
OMIM:274270 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Respiratory failure, Death in infancy |
OMIM:617248 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Aggressive behavior |
OMIM:619467 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:614299 |
Oculocerebrocutaneous Syndrome |
|
Facial cleft |
ORPHA:1647 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in childhood, Respiratory failure, Neonatal death, Death in infancy |
OMIM:619334 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Respiratory fai... |
OMIM:613954 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory insufficiency, Respiratory failure |
OMIM:313420 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Polymicrogyria |
OMIM:615330 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Self-injurious behavior, Hyperactivity, Anxiety, Aggressive behavior |
OMIM:271980 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Choreoathetosis, Hyperactivity, Aggressive behavior |
OMIM:612716 |
Asbestos Intoxication |
|
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Wheezing... |
ORPHA:2302 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Communicating hydrocephalus |
ORPHA:1861 |
Chromosome Xq25 Duplication Syndrome |
|
Anxiety, Hyperactivity |
OMIM:300979 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity, Aggressive behavior |
OMIM:301013 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Happy demeanor, Ataxia, Hyperactivity, Inappropriate laughter |
ORPHA:411515 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:370968 |
Acrofacial Dysostosis, Catania Type |
|
Facial cleft |
ORPHA:1786 |
Optic Atrophy 11 |
|
Optic atrophy, Ataxia, Hyperactivity, Dysmetria |
OMIM:617302 |
Female Restricted Epilepsy With Intellectual Disability |
|
Impulsivity, Anxiety, Hyperactivity, Aggressive behavior |
ORPHA:101039 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Unsteady gait, Self-mutilation |
OMIM:615516 |
Intermediate Nemaline Myopathy |
|
Dysphagia, Respiratory failure |
ORPHA:171433 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Hyperactivity, Aggressive behavior, Irritability |
OMIM:300831 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Respiratory failure, Central sleep apnea, Obstructive sleep apnea |
ORPHA:70472 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in childhood, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy |
OMIM:617186 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Inability to walk, Hyperactivity, Paroxysmal bursts of laughter |
OMIM:618718 |
Early-Onset Schizophrenia |
|
Impairment in personality functioning, Abnormal emotion/affect behavior, Depression, Anxiety, Low... |
ORPHA:96369 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... |
OMIM:265120 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal... |
ORPHA:2211 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Central hypoventilation, Apnea, Dysphagia, Respiratory failure |
OMIM:618233 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Hyperactivity, Self-injurious behavior, Progressive cerebellar ataxia, Depression, Anxiety, Aggre... |
ORPHA:485350 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... |
OMIM:610921 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dysphagia, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
Gand Syndrome |
|
Inappropriate laughter, Hyperactivity |
OMIM:615074 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Hyperactivity, Aggressive behavior |
ORPHA:369939 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Chronic rhinitis, Recurrent sinusit... |
OMIM:608647 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Agyria, Hydrocephalus, Respiratory failure, Polymicrogyria |
OMIM:616538 |
Triopia |
|
Midline facial cleft |
ORPHA:3374 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Primary Ciliary Dyskinesia |
|
Hydrocephalus, Airway obstruction, Wheezing, Chronic rhinitis, Chronic sinusitis, Productive coug... |
ORPHA:244 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... |
ORPHA:454836 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Mosaic Trisomy 9 |
|
Facial cleft |
ORPHA:99776 |
Cln5 Disease |
|
Ataxia, Inability to walk, Hyperactivity, Dysmetria, Dysdiadochokinesis, Anxiety, Truncal ataxia,... |
ORPHA:228360 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad-based gait, Happy demeanor, Hyperactivity, Unsteady gait |
OMIM:617865 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Degeneration of anterior horn cells, Tachypnea, Inspiratory stridor, Ventilator dependence with i... |
OMIM:604320 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy, Polymicrogyria |
OMIM:610678 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Broad-based gait, Hyperactivity, Aggressive behavior |
ORPHA:457260 |
3Mc Syndrome 3 |
|
Facial cleft |
OMIM:248340 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Exertional dyspnea, Respirator... |
ORPHA:98913 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Central hypoventilation, Apnea, Respiratory failure |
OMIM:619483 |
Leigh Syndrome |
|
Abnormal pattern of respiration, Respiratory insufficiency, Respiratory failure |
OMIM:256000 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Impulsivity, Hyperactivity, Gait ataxia, Aggressive behavior |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Anxiety, Hyperactivity, Aggressive behavior |
OMIM:300558 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
Constricting Bands, Congenital |
|
Facial cleft |
OMIM:217100 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Nonproductive cough, Crackles, Decreased DLCO, Tachypnea, Pleural effusion, Bronchiect... |
ORPHA:79126 |
Short Rib-Polydactyly Syndrome |
|
Facial cleft |
ORPHA:1505 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Impulsivity, Hyperactivity |
OMIM:300143 |
Spinocerebellar Ataxia Type 1 |
|
Dysphagia, Respiratory failure |
ORPHA:98755 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Respiratory insufficiency, Polymicrogyria, Death in infancy, Neonatal respiratory distress... |
OMIM:608836 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory paralysis, Respiratory failure, Epis... |
ORPHA:449285 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Hyperactivity, Retinal degeneration, Anxiety, Gait disturbance, Aggres... |
ORPHA:168491 |
Mycophenolate Mofetil Embryopathy |
|
Facial cleft |
ORPHA:268249 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Abnormal respiratory system physiology, Motor neuron atrophy, Dysp... |
ORPHA:803 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Cough, Pneumonia, Abnormal respiratory system physiology, Bronchial b... |
ORPHA:449280 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Death in childhood, Respiratory failure, Tachypnea |
OMIM:615838 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Nocturnal hypoventilation, Respiratory failure, Reduced vital capacity |
OMIM:603689 |
Immunodeficiency 54 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609981 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure |
ORPHA:99931 |
Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Dysphagia, Restrictive ventilatory defect, Hypoventilation, Neona... |
ORPHA:70 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Abnormal eating behavior, Recurrent pneumonia, Abnormal drinking be... |
ORPHA:209905 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Dysphagia, Restrictive ventilatory defect, Cardiorespiratory arrest, Dys... |
ORPHA:26791 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Stridor, Intercostal muscle weakness, Respiratory failure, Obstructive sleep apnea |
OMIM:606071 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Hyperactivity, Impulsivity, Optic atrophy, Gait disturbance, Unsteady gait, Emotional lab... |
ORPHA:35069 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Happy demeanor, Ataxia, Hyperactivity, Gait disturbance, Inappropriate laughter |
OMIM:614104 |
Metatropic Dysplasia |
|
Respiratory insufficiency, Respiratory failure |
OMIM:156530 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Dysphagia, Death in childhood, Respiratory failure |
OMIM:619847 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Niemann-Pick Disease, Type C2 |
|
Death in childhood, Respiratory insufficiency, Dysphagia, Death in infancy, Neonatal respiratory ... |
OMIM:607625 |
Treacher-Collins Syndrome |
|
Facial cleft |
ORPHA:861 |
Bartsocas-Papas Syndrome 1 |
|
Facial cleft |
OMIM:263650 |
Peripartum Cardiomyopathy |
|
Asthma, Paroxysmal dyspnea, Crackles, Orthopnea, Dyspnea, Exertional dyspnea, Pulmonary arterial ... |
ORPHA:563 |
Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Self-injurious behavior, Hyperactivity, Craniosynostosis, Depression, Bipolar affective d... |
OMIM:601853 |
Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Restrictive ventilatory defect, Hypoventilation, Respiratory insufficiency d... |
OMIM:310200 |
X-Linked Adrenoleukodystrophy |
|
Inappropriate sexual behavior, Hyperactivity, Gait disturbance, Attention deficit hyperactivity d... |
ORPHA:43 |
Chromosome Xq13 Duplication Syndrome |
|
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Emotional ... |
OMIM:301069 |
Frontonasal Dysplasia 2 |
|
Tessier number 13 facial cleft |
OMIM:613451 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Inability to walk, Hyperactivity, Self-mutilation, Gait ataxia, Aggressive behavi... |
OMIM:103050 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pachygyria, Respiratory insufficiency, Lissencephaly, Aspiration, Hypoventilation, Dysphagia, Int... |
ORPHA:258 |
Otopalatodigital Syndrome, Type Ii |
|
Stillbirth, Respiratory insufficiency, Hydrocephalus, Respiratory failure |
OMIM:304120 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Hyperactivity, Impulsivity, Dysmetria, Dysdiadochokinesis, Optic atrophy, Gait ataxia, Emotional ... |
OMIM:610217 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Hydrocephalus, Respiratory failure |
OMIM:259720 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure |
OMIM:135100 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Hyperactivity, Depression, Anxiety, Attention deficit hyperactivity diso... |
ORPHA:449291 |
Mucopolysaccharidosis, Type Iiib |
|
Aggressive behavior, Hyperactivity, Dense calvaria |
OMIM:252920 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure |
ORPHA:444013 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... |
OMIM:220110 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Anxiety, Hyperactivity |
OMIM:617600 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Severe Congenital Nemaline Myopathy |
|
Dysphagia, Respiratory failure |
ORPHA:171430 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory insufficiency, Respiratory failure, Hypercapnia |
OMIM:267480 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Central hypoventilation, Dysphagia, Respiratory failure |
ORPHA:70474 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... |
OMIM:615512 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure |
OMIM:613845 |
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 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Facial cleft |
ORPHA:306542 |
Pitt-Hopkins-Like Syndrome 1 |
|
Ataxia, Hyperactivity, Aggressive behavior |
OMIM:610042 |
47,Xyy Syndrome |
|
Attention deficit hyperactivity disorder, Congenital stationary night blindness, Hyperactivity, I... |
ORPHA:8 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure, Pleural effusion, Tachypnea |
ORPHA:542323 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Nephronophthisis 2 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:602088 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Dense calvaria, Rod-cone dystrophy |
OMIM:252930 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Macrogyria |
ORPHA:280210 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
X-Linked Creatine Transporter Deficiency |
|
Self-mutilation, Ataxia, Hyperactivity, Athetosis |
ORPHA:52503 |
Leigh Syndrome |
|
Dysphagia, Abnormal pattern of respiration, Respiratory failure, Agenesis of corpus callosum |
ORPHA:506 |
Pulmonary Alveolar Microlithiasis |
|
Oxygen desaturation on exertion, Nonproductive cough, Respiratory insufficiency, Tachypnea, Pneum... |
ORPHA:60025 |
Fraser Syndrome 1 |
|
Facial cleft |
OMIM:219000 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dysphagia, Respiratory failure, Recurrent pneumonia, Respiratory failure requiring assisted venti... |
ORPHA:496641 |
Angelman Syndrome |
|
Broad-based gait, Happy demeanor, Ataxia, Inability to walk, Hyperactivity, Self-injurious behavi... |
ORPHA:72 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Apnea, Respiratory failure |
OMIM:617301 |
Joubert Syndrome 1 |
|
Ataxia, Hyperactivity, Self-mutilation, Retinal dystrophy, Optic disc coloboma, Optic disc pallor... |
OMIM:213300 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Hyperactivity, Self-mutilation, Low frustration tolerance, Aggressive behavior, Skin-picking |
ORPHA:163681 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure requiring assisted ventilati... |
ORPHA:308552 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure |
OMIM:609015 |
Poliomyelitis |
|
Dysphagia, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Respiratory failure |
ORPHA:445038 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Hyperactivity, Emotional lability |
OMIM:620047 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Ataxia, Akinesia, Hyperactivity, Retinal degeneration, Depression, Pigmentary retinopathy, Optic ... |
OMIM:234200 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Umbilical hernia, Large placenta |
ORPHA:254528 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in childhood, Respiratory insufficiency, Respiratory failure |
OMIM:610505 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Respiratory failure |
ORPHA:746 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Sleep apnea, Pneumonia |
OMIM:617809 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Neonatal death |
OMIM:266910 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Respiratory failure |
ORPHA:3015 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Respiratory insufficiency, Orthopnea, Dysphagia, Exertional dy... |
ORPHA:365 |
Congenital Fiber-Type Disproportion Myopathy |
|
Weakness of muscles of respiration, Aspiration pneumonia, Hypercapnia, Dysphagia, Hypoxemia, Inte... |
ORPHA:2020 |
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 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618329 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Riddle Syndrome |
|
Recurrent sinusitis, Chronic sinusitis, Recurrent pneumonia, Restrictive ventilatory defect, Pneu... |
ORPHA:420741 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure |
ORPHA:3342 |
Holoprosencephaly 1 |
|
Facial cleft |
OMIM:236100 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Hydrocephalus, Dyspnea, Respiratory failure, Agenesis of corpus callosum |
ORPHA:2556 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Respiratory insufficiency, Respiratory failure, Tachypnea |
OMIM:618278 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Miscarriage, Spinal dysraphism, Lissencephaly, Restrictive ventilatory defect, Pulmonary arterial... |
ORPHA:96334 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Facial cleft |
ORPHA:93271 |
Costello Syndrome |
|
Hydrocephalus, Tracheomalacia, Respiratory insufficiency, Pneumothorax, Respiratory failure, Obst... |
OMIM:218040 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Respiratory insufficiency, Respiratory failure, Death in infancy |
OMIM:252010 |
Nocardiosis |
|
Respiratory distress, Nonproductive cough, Pneumothorax, Productive cough, Pneumonia, Emphysema, ... |
ORPHA:31204 |
Malignant Atrophic Papulosis |
|
Respiratory failure, Pleural effusion |
ORPHA:679 |
Bickerstaff Brainstem Encephalitis |
|
Hypercapnia, Respiratory failure requiring assisted ventilation, Pneumonia, Dyspnea, Respiratory ... |
ORPHA:79138 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Cough, Respiratory failure, Pneumonia, Pleural effusion, Dyspnea, Epistaxis |
ORPHA:340 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
Argininemia |
|
Spastic gait, Hyperactivity, Irritability |
OMIM:207800 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory failure, Noncommunicating hydrocephalus |
ORPHA:805 |
Mucopolysaccharidosis Type 2 |
|
Abnormality of retinal pigmentation, Hyperactivity, Abnormal foveal morphology, Retinal degenerat... |
ORPHA:580 |
Listeriosis |
|
Respiratory distress, Miscarriage, Respiratory failure, Pneumonia |
ORPHA:533 |
Bloom Syndrome |
|
Rhinitis, Respiratory failure, Chronic pulmonary obstruction, Pneumonia |
ORPHA:125 |
Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration, Respiratory failure, Recurrent pneumonia |
ORPHA:647 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure, Death in infancy |
OMIM:300868 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure |
ORPHA:158687 |
Steinert Myotonic Dystrophy |
|
Oral-pharyngeal dysphagia, Respiratory insufficiency, Respiratory failure requiring assisted vent... |
ORPHA:273 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Lateral ventricle dilatation, Emphysema, Dysphagia, S... |
ORPHA:500150 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Cough, Tachypnea, Emphysema, Respiratory failure |
OMIM:613658 |
Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2554 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Stridor, Pneumonia, Pneumothorax, Dyspnea, Respiratory failure |
ORPHA:79404 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Recurrent pneumonia, Hypoventilation, Spontaneous pneumothorax, Respiratory failure |
ORPHA:731 |
Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Respiratory insufficiency, Dysphagia, Respiratory failure |
ORPHA:646 |
Myhre Syndrome |
|
Respiratory insufficiency, Respiratory failure |
OMIM:139210 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Dyspnea, Respiratory failure |
ORPHA:2636 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure |
ORPHA:3404 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Inability to walk, Attention deficit hyperactivity disorder, Anxiety, Aggressive behavior |
OMIM:616973 |
Craniofacial Microsomia |
|
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 |