Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Autism, Susceptibility To, X-Linked 4 |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:300830 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Familial Alzheimer-Like Prion Disease |
|
Anxiety, Attention deficit hyperactivity disorder, Emotional lability, Depression |
ORPHA:280397 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity, Anxiety |
OMIM:617796 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
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 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, Attention deficit hyperactivity disorder, Broad-based gait, Anxiety |
OMIM:617665 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Aggressive behavior |
OMIM:615493 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Irritability |
OMIM:616657 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:356996 |
Fryns Microphthalmia Syndrome |
|
Facial cleft |
OMIM:600776 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Cerebral dysmyel... |
OMIM:611722 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior, Anxiety |
OMIM:619031 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Attention deficit hyperactivity disorder, Self-mutilation |
OMIM:137580 |
Myoclonus-Dystonia Syndrome |
|
Dystonia, Writer's cramp, Torticollis, Personality disorder, Panic attack, Anxiety, Depression |
ORPHA:36899 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation |
DECIPHER:8 |
Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Ataxia, Anxiety, Attention deficit hyperactivity disorder, Depression, Difficulty walking |
OMIM:619191 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Agoraphobia, Anxiety, Depression |
OMIM:159900 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Osteopenia |
OMIM:608747 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Hypoplasia of the corpus callosum, Respiratory insufficiency, Cerebral corti... |
OMIM:616081 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Frontonasal Dysplasia 3 |
|
Facial cleft |
OMIM:613456 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Neonatal death, Respiratory insufficiency due to muscle w... |
OMIM:611890 |
Dystonia 12 |
|
Dystonia, Torticollis, Bradykinesia, Emotional lability, Unsteady gait, Anxiety, Depression |
OMIM:128235 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Dysphagia, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal ins... |
ORPHA:266 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Ataxia, Anxiety, Optic disc pallor, Retinal thinning |
OMIM:618970 |
Chorea, Benign Hereditary |
|
Gait disturbance, Anxiety |
OMIM:118700 |
Glycine Encephalopathy |
|
Aggressive behavior, Hyperactivity, Irritability, Impulsivity, Lethargy |
OMIM:605899 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... |
OMIM:614399 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Polymicrogyria, Respiratory failure, Hypoplasia... |
OMIM:618291 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Optic atrophy |
OMIM:300928 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Dysphagia, Cerebral atrophy |
OMIM:618637 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dysphagia, Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilatio... |
ORPHA:90117 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Neuronal loss in the cerebral cortex, Central sleep apnea, ... |
ORPHA:168486 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Apnea, Cerebral atrophy, Respiratory failure, Microcep... |
OMIM:610127 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:604317 |
Nemaline Myopathy 8 |
|
Respiratory failure, Dysphagia, Death in infancy |
OMIM:615348 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Facial cleft |
OMIM:601357 |
Vacterl Association With Hydrocephalus |
|
Respiratory insufficiency, Stillbirth, Hydrocephalus, Respiratory failure, Aqueductal stenosis |
OMIM:276950 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Optic atrophy, Broad-based gait |
OMIM:619470 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Aggressive behavior, Ataxia, Optic atrophy |
OMIM:300983 |
Huntington Disease-Like 2 |
|
Dystonia, Apathy, Bradykinesia, Irritability, Anxiety, Depression |
OMIM:606438 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Dysmetria, Optic nerve hypoplasia, Ataxia, Emotional lability, Attention deficit hyperactivity di... |
OMIM:614306 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Microcephaly |
OMIM:225753 |
Hyperekplexia 4 |
|
Respiratory failure, Umbilical hernia, Cerebral atrophy |
OMIM:618011 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Aggressive behavior, Impulsivity |
OMIM:309548 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Respirato... |
OMIM:619057 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Cerebral atrophy, Respiratory failure, Secondary microcephaly, Hypoplasi... |
OMIM:617248 |
Fraxe Intellectual Disability |
|
Hyperactivity, Aggressive behavior, Impulsivity |
ORPHA:100973 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Irritability, Broad... |
ORPHA:248111 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly |
ORPHA:1832 |
Anophthalmia Plus Syndrome |
|
Facial cleft |
ORPHA:1104 |
Mental Retardation, Autosomal Dominant 43 |
|
Hyperactivity, Anxiety, Impulsivity |
OMIM:616977 |
Acrofacial Dysostosis, Weyers Type |
|
Facial cleft |
ORPHA:952 |
Phenylketonuria |
|
Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Anxiety, Attention deficit hyp... |
OMIM:261600 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:239500 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Polymicrogyria, Abnormal cerebral white matter morphology, Respiratory... |
OMIM:615330 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Facial cleft |
OMIM:239800 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Neonatal death, Focal... |
OMIM:245400 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Facial cleft |
OMIM:607597 |
Oculomaxillofacial Dysostosis |
|
Facial cleft |
ORPHA:1794 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... |
ORPHA:254875 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory failure, Degeneration of anterior horn cells, Respiratory insufficiency, Cerebral atr... |
OMIM:600333 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Hyperactivity, Irrit... |
ORPHA:3077 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Microcephaly, Respiratory failure, Abnormal periventricular white matt... |
ORPHA:370968 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Dysphagia, Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Abno... |
ORPHA:2590 |
Cerebrooculonasal Syndrome |
|
Facial cleft |
ORPHA:66625 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Chromosome 3Q29 Deletion Syndrome |
|
Aggressive behavior, Hyperactivity, Anxiety, Gait ataxia |
OMIM:609425 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Optic atrophy, Lethargy |
OMIM:274270 |
Coffin-Siris Syndrome 8 |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:618362 |
Lennox-Gastaut Syndrome |
|
Hyperactivity, Aggressive behavior, Falls, Personality disorder |
ORPHA:2382 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Dysphagia, Apnea, Leukoencephalopathy, Central hypoventilation, Respiratory failure |
OMIM:618233 |
Xq25 Microduplication Syndrome |
|
Hyperactivity, Anxiety |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
|
Hyperactivity, Anxiety |
OMIM:300979 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency |
OMIM:273730 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Abnormal cortical gyration, Respiratory failure, Dysphagia, Neonatal respiratory distress |
OMIM:616867 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Aggressive behavior |
OMIM:615541 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Dysphagia, Obstructive sleep apnea, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral... |
ORPHA:70472 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Neonatal death, Respiratory insufficiency |
OMIM:228940 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
Frontofacionasal Dysplasia |
|
Facial cleft |
ORPHA:1791 |
Landau-Kleffner Syndrome |
|
Steppage gait, Aggressive behavior, Hyperactivity, Emotional lability, Impulsivity, Anxiety, Atte... |
ORPHA:98818 |
Dystonia 26, Myoclonic |
|
Torticollis, Laryngeal dystonia, Depression, Anxiety, Blepharospasm |
OMIM:616398 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:605711 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure, Neonatal respiratory distress, Hydrocephalus, Respiratory failure requiring ... |
OMIM:310400 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Late inspirator... |
ORPHA:2302 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
Oculocerebrocutaneous Syndrome |
|
Facial cleft |
ORPHA:1647 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Respiratory failure, Hypoplasia of... |
OMIM:616538 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Anxiety, Depression |
OMIM:619467 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Dysphagia, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morpho... |
OMIM:613954 |
Arthrogryposis Multiplex Congenita 6 |
|
Respiratory failure, Neonatal death, Death in infancy, Death in childhood |
OMIM:619334 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory failure, Dyspnea, Microc... |
ORPHA:352447 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Dystonia, Aggressive behavior, Ataxia |
OMIM:612716 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Communicating hydrocephalus |
ORPHA:1861 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Hydrocephalus, Cerebral atrophy, Respiratory failure, Microcephaly |
OMIM:259720 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Aggressive behavior, Hyperactivity, Attention deficit hyperactivity disorder, Anxiety |
OMIM:301013 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:271980 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability, Abnormal cortical bone morphology |
OMIM:300831 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171433 |
Acrofacial Dysostosis, Catania Type |
|
Facial cleft |
ORPHA:1786 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy, Polymicrogyria, Microcephaly |
OMIM:610678 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, Dystonia, Depression, Impulsivity |
ORPHA:88616 |
Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia |
ORPHA:382 |
Optic Atrophy 11 |
|
Dysmetria, Hyperactivity, Ataxia, Optic atrophy |
OMIM:617302 |
Early-Onset Schizophrenia |
|
Unhappy demeanor, Low self esteem, Suicidal ideation, Irritability, Anhedonia, Emotional lability... |
ORPHA:96369 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Acute infecti... |
ORPHA:723 |
Female Restricted Epilepsy With Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Anxiety, Impulsivity |
ORPHA:101039 |
Leigh Syndrome |
|
Respiratory failure, Focal substantia nigra T2 hyperintensity, Respiratory insufficiency, Abnorma... |
OMIM:256000 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Neonatal death, Pulmonary arterial hy... |
OMIM:265120 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Hyperactivity, Aggressive behavior, Self-mutilation |
OMIM:615516 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... |
OMIM:610921 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Aggressive behavior |
OMIM:618342 |
Gand Syndrome |
|
Hyperactivity, Inappropriate laughter |
OMIM:615074 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Self-injurious behavior, Hyperactivity, Inability to walk, Paroxysmal bursts of laughter |
OMIM:618718 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Abnormal periventricular white matter morphology, Hypoplasia of the corpus c... |
OMIM:615838 |
Isolated Arrhinia |
|
Facial cleft |
ORPHA:1134 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Respiratory distress, Respiratory failure, Cough |
OMIM:263000 |
Triopia |
|
Midline facial cleft |
ORPHA:3374 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Abnormality of neuronal migration, Pachygyria, Macrogyria, Exencephal... |
ORPHA:2211 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:244 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Hyperactivity, Aggressive behavior, Optic atrophy |
ORPHA:369939 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Respiratory failure, C... |
ORPHA:1194 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Self-injurious behavior, Aggressive behavior, Progressive cerebellar ataxia, Hyperactivity, Unste... |
ORPHA:485350 |
Immunodeficiency 54 |
|
Respiratory failure, Adrenocorticotropic hormone excess, Microcephaly, Respiratory insufficiency |
OMIM:609981 |
Mosaic Trisomy 9 |
|
Facial cleft |
ORPHA:99776 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Aggressive behavior, Hyperactivity, Inability to walk, Impulsivity, Gait ataxia |
ORPHA:500180 |
Cln5 Disease |
|
Dysmetria, Aggressive behavior, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Tru... |
ORPHA:228360 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... |
ORPHA:60032 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Epistaxis, Respiratory paralysis, Hypopituitarism, Respiratory failure, N... |
ORPHA:449285 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Caudate atrophy, Cerebral atrophy |
ORPHA:363400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity |
OMIM:300434 |
Ck Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:251383 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Aggressive behavior |
OMIM:617752 |
Mental Retardation, Autosomal Recessive 61 |
|
Hyperactivity, Aggressive behavior |
OMIM:617773 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... |
OMIM:610913 |
Leigh Syndrome With Cardiomyopathy |
|
Dysphagia, Neuronal loss in basal ganglia, Diffuse white matter abnormalities, Abnormal cerebral ... |
ORPHA:70474 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Inspiratory stridor, Tachypnea, Ventilator dependence with inability to wean, Respiratory failure... |
OMIM:604320 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in infancy, Respiratory failure, Cerebral edema, Leukoencephalopathy |
OMIM:617186 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:457260 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
3Mc Syndrome 3 |
|
Facial cleft |
OMIM:248340 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Reduced vital capacity, Respirator... |
ORPHA:98913 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Unsteady gait, Hyperactivity, Happy demeanor, Broad-based gait |
OMIM:617865 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Decreased DLCO, Nonproductive cough, Respiratory ... |
ORPHA:79126 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Respiratory insufficiency, Apnea, Microcephaly, Respiratory di... |
OMIM:608836 |
Alg1-Cdg |
|
Respiratory failure, Progressive microcephaly, Cerebral atrophy |
ORPHA:79327 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Facial cleft |
ORPHA:1236 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Paroxysmal dyspnea, Stridor, Abnormal thalamic MRI signal intensity, Respiratory failure, Abnorma... |
ORPHA:444013 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
Constricting Bands, Congenital |
|
Facial cleft |
OMIM:217100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Aggressive behavior |
OMIM:615824 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:178320 |
Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Abnormal drinking behavior, Pulmonary arterial hypertension, Abnor... |
ORPHA:209905 |
Alazami-Yuan Syndrome |
|
Hyperactivity |
OMIM:617126 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Aggressive behavior, Hyperactivity, Anxiety |
OMIM:300558 |
Short Rib-Polydactyly Syndrome |
|
Facial cleft |
ORPHA:1505 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Dystonia, Optic atrophy, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Emotional la... |
OMIM:610217 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Mycophenolate Mofetil Embryopathy |
|
Facial cleft |
ORPHA:268249 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure, Dysphagia |
ORPHA:98755 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... |
ORPHA:454836 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability |
OMIM:275000 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Gait disturbance, Retinal degeneration, Aggressive behavior, Hyperactivity, Inability to walk, At... |
ORPHA:168491 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Hyperactivity, Impulsivity |
OMIM:300143 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Abnormal respiratory system physiology, Amyotrophic lateral sclerosis, Resp... |
ORPHA:803 |
Fibrodysplasia Ossificans Progressiva |
|
Basal ganglia calcification, Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Infantile Neuroaxonal Dystrophy |
|
Dystonia, Gait disturbance, Optic atrophy, Hyperactivity, Ataxia, Emotional lability, Impulsivity... |
ORPHA:35069 |
Rasmussen Subacute Encephalitis |
|
Hemidystonia, Hyperactivity, Inability to walk, Irritability, Emotional lability, Attention defic... |
ORPHA:1929 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
Hyperactivity, Aggressive behavior, Osteopenia |
OMIM:616809 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Hyperactivity, Aggressive behavior |
OMIM:615286 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Dysphagia, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertensio... |
ORPHA:258 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... |
ORPHA:449280 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Nocturnal hypoventilation, Reduced vital capacity |
OMIM:603689 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea |
ORPHA:70578 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2759 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Dyspnea |
ORPHA:99931 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Dysphagia, Gray matter heterotopia, Respiratory failure, Cardiorespiratory arrest, Restrictive ve... |
ORPHA:26791 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
Proximal Spinal Muscular Atrophy |
|
Dysphagia, Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weak... |
ORPHA:70 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Basal ganglia calcification, Respiratory failure |
OMIM:616505 |
Mercury Poisoning |
|
Interstitial pneumonitis, Respiratory distress, Abnormal cerebral white matter morphology, Respir... |
ORPHA:330021 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness, Stridor, Obstructive sleep apnea |
OMIM:606071 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Hypoplasia of the corpus callosum, Primary microcephaly |
OMIM:618804 |
Smith-Magenis Syndrome |
|
Hyperactivity, Retinal detachment, Self-mutilation, Head-banging |
OMIM:182290 |
Treacher-Collins Syndrome |
|
Facial cleft |
ORPHA:861 |
Peripartum Cardiomyopathy |
|
Paroxysmal dyspnea, Crackles, Pulmonary arterial hypertension, Exertional dyspnea, Orthopnea, Ast... |
ORPHA:563 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
OMIM:300958 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hyperactivity, Self-biting |
OMIM:618314 |
Gomez-Lopez-Hernandez Syndrome |
|
Self-injurious behavior, Craniosynostosis, Hyperactivity, Ataxia, Depression, Bipolar affective d... |
OMIM:601853 |
Coffin-Siris Syndrome 7 |
|
Hyperactivity, Sagittal craniosynostosis |
OMIM:618027 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Dysphagia, Apnea, Respiratory failure, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:617301 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure, Macrogyria, Confluent hyperintensity of cerebral white matter on MRI |
ORPHA:280210 |
Mental Retardation, Autosomal Dominant 7 |
|
Gait disturbance, Happy demeanor, Inappropriate laughter, Hyperactivity, Ataxia |
OMIM:614104 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly |
ORPHA:2707 |
Bartsocas-Papas Syndrome 1 |
|
Facial cleft |
OMIM:263650 |
X-Linked Adrenoleukodystrophy |
|
Gait disturbance, Aggressive behavior, Inappropriate sexual behavior, Hyperactivity, Disinhibitio... |
ORPHA:43 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Dysphagia, Primary microcephaly, Recurrent pneumonia, Respiratory failure, Secondary microcephaly... |
ORPHA:496641 |
Adenylosuccinase Deficiency |
|
Happy demeanor, Aggressive behavior, Self-mutilation, Inappropriate laughter, Hyperactivity, Inab... |
OMIM:103050 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Hypoventilation, Respiratory insufficiency |
OMIM:310200 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Hydrocephalus, Stillbirth, Respiratory insufficiency |
OMIM:304120 |
Niemann-Pick Disease, Type C2 |
|
Respiratory failure, Neurofibrillary tangles, Dysphagia, Respiratory insufficiency |
OMIM:607625 |
Leigh Syndrome |
|
Dysphagia, Neuronal loss in basal ganglia, Abnormal pattern of respiration, Focal T2 hyperintense... |
ORPHA:506 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Self-injurious behavior, Aggressive behavior, Hyperactivity, Irritability, Anxiety, Attention def... |
ORPHA:449291 |
3-Methylglutaconic Aciduria Type 7 |
|
Pneumothorax, Primary microcephaly, Abnormality of the basal ganglia, Respiratory failure, Cerebr... |
ORPHA:445038 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Paroxysmal bursts of laughter, Ataxia |
ORPHA:228402 |
Mental Retardation, Autosomal Recessive 13 |
|
Hyperactivity |
OMIM:613192 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Subcortical white matter calcifications, Respiratory failure, Diffuse cerebral atrophy |
ORPHA:3240 |
X-Linked Creatine Transporter Deficiency |
|
Athetosis, Dystonia, Self-mutilation, Hyperactivity, Ataxia |
ORPHA:52503 |
Mucopolysaccharidosis, Type Iiib |
|
Hyperactivity, Aggressive behavior, Dense calvaria |
OMIM:252920 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Dysphagia |
ORPHA:171430 |
Cri-Du-Chat Syndrome |
|
Optic atrophy, Aggressive behavior, Conspicuously happy disposition, Self-mutilation, Hyperactivi... |
OMIM:123450 |
Rubinstein-Taybi Syndrome 2 |
|
Hyperactivity |
OMIM:613684 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Optic atrophy |
ORPHA:530983 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Dystonia, Gait disturbance, Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Bradykin... |
OMIM:234200 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Abnormal emotion/... |
ORPHA:1942 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:308552 |
Respiratory Underresponsiveness To Hypoxia And Hypercapnia |
|
Respiratory failure, Hypercapnia, Respiratory insufficiency |
OMIM:267480 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Mood swings, Hyperactivity, Aggressive behavior, Gait ataxia |
OMIM:300354 |
Chromosome 2Q37 Deletion Syndrome |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:600430 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Irritability |
ORPHA:391307 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Dense calvaria, Rod-cone dystrophy |
OMIM:252930 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure, Hypoplasia of the corpus callosum, Hyperintensity of cerebral white matter o... |
ORPHA:88618 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Facial cleft |
ORPHA:306542 |
Infantile Krabbe Disease |
|
Hypointensity of cerebral white matter on MRI, Respiratory distress, Diffuse cerebral atrophy, Re... |
ORPHA:206436 |
47,Xyy Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder, Congenital stationary night blindness, I... |
ORPHA:8 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Optic nerve hypoplasia, Self-mutilation, Inappropriate laughter, Hyperactivity, Low frustration t... |
ORPHA:363686 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:613845 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Ataxia |
OMIM:610042 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Respiratory failure, Hypoxemia, Tachypnea, Pleural effusion |
ORPHA:542323 |
Chromosome 10Q26 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Craniosynostosis, Broad-based gait |
OMIM:609625 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity |
ORPHA:397973 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Self-biting |
ORPHA:3306 |
Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
Chromosome 15Q25 Deletion Syndrome |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:614294 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Aggressive behavior, Hyperactivity, Anxiety, Ataxia |
OMIM:618430 |
Fraser Syndrome 1 |
|
Facial cleft |
OMIM:219000 |
16P12.1P12.3 Triplication Syndrome |
|
Skin-picking, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Nail-biting |
ORPHA:485405 |
Angelman Syndrome |
|
Optic atrophy, Optic disc pallor, Happy demeanor, Self-injurious behavior, Aggressive behavior, I... |
ORPHA:72 |
Joubert Syndrome 1 |
|
Optic disc pallor, Chorioretinal coloboma, Retinal dysplasia, Retinal dystrophy, Aggressive behav... |
OMIM:213300 |
Riddle Syndrome |
|
Pneumonia, Chronic sinusitis, Respiratory failure, Recurrent pneumonia, Abnormal cerebral white m... |
ORPHA:420741 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory insufficiency, Focal T2 hyperintense basal ganglia lesion, Apnea, L... |
OMIM:252010 |
Fragile X Syndrome |
|
Hyperactivity |
OMIM:300624 |
Myopathy With Extrapyramidal Signs |
|
Dystonia, Optic atrophy, Hyperactivity, Ataxia, Difficulty walking |
OMIM:615673 |
19P13.3 Microduplication Syndrome |
|
Self-injurious behavior, Hyperactivity, Irritability, Osteoporosis |
ORPHA:447980 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Aggressive behavior, Self-mutilation, Hyperactivity, Ataxia, Low frustration tolerance |
ORPHA:163681 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Gait imbalance, Happy demeanor, Inappropriate laughter, Ataxia, Hyperactivity, Broad-based gait |
ORPHA:98794 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Dense calvaria |
OMIM:252900 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Poliomyelitis |
|
Respiratory failure, Dysphagia, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, Secondary microcephaly, Respiratory insufficiency |
OMIM:618329 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Attention deficit hyperactivity disorder, Osteoporosis |
ORPHA:73272 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Gait ataxia, Low frustration tolerance, Self-mutilation |
OMIM:300486 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Respiratory failure, Abnormal respiratory system physiology, Pneumonia |
ORPHA:98905 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Self-mutilation |
ORPHA:412035 |
Glass Syndrome |
|
Hyperactivity, Aggressive behavior, Happy demeanor, Broad-based gait |
OMIM:612313 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:610505 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Large placenta, Umbilical hernia |
ORPHA:254528 |
Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory failure, Pneumothorax, Neonatal death, Respiratory distress |
OMIM:266910 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Exertiona... |
ORPHA:365 |
Mend Syndrome |
|
Hyperactivity |
OMIM:300960 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperactivity, Aggressive behavior, Emotional lability, Low frustration tolerance |
OMIM:309520 |
Radio-Renal Syndrome |
|
Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion, Chylothorax |
ORPHA:3015 |
Geleophysic Dysplasia 3 |
|
Respiratory failure, Pneumonia, Dyspnea, Sleep apnea |
OMIM:617809 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Hyperactivity |
OMIM:619239 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Hypercapnia, Abnormal thalamic MRI signal intensity, Respiratory failure, Dyspnea, Res... |
ORPHA:79138 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hypoxemia, Dysphagia, Intercostal muscle weakness, Hypercapnia, Respiratory insufficiency due to ... |
ORPHA:2020 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Absent septum pellucidum, Respiratory distress, Hydrocephalus, Respiratory failure, Dyspnea, Agen... |
ORPHA:2556 |
Congenital Tricuspid Valve Dysplasia |
|
Tachypnea, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:555874 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Emotional lability, Hyperactivity, Self-mutilation |
OMIM:256800 |
Tuberous Sclerosis Complex |
|
Noncommunicating hydrocephalus, Cortical tubers, Pituitary adenoma, Respiratory distress, Respira... |
ORPHA:805 |
Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Progressive gait ataxia, Broad-based gait |
OMIM:105830 |
Holoprosencephaly 1 |
|
Facial cleft |
OMIM:236100 |
Arterial Tortuosity Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea, Cardiorespiratory arrest |
ORPHA:3342 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hyperactivity, Craniosynostosis, Irritability |
ORPHA:525731 |
Costello Syndrome |
|
Obstructive sleep apnea, Respiratory insufficiency, Pneumothorax, Hydrocephalus, Cerebral atrophy... |
OMIM:218040 |
Mucopolysaccharidosis Type 3 |
|
Gait disturbance, Optic atrophy, Retinal degeneration, Loss of ambulation, Aggressive behavior, R... |
ORPHA:581 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Facial cleft |
ORPHA:93271 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Low frustration tolerance, Hyperactivity, Aggressive behavior, Shuffling gait |
OMIM:300534 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Tachypnea, Cough, Cerebral calcification, Respiratory failure, Emphyse... |
OMIM:613658 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Respiratory failure, Restrictive ventilatory defect, Lissencepha... |
ORPHA:96334 |
Nijmegen Breakage Syndrome |
|
Respiratory failure, Abnormality of neuronal migration, Recurrent pneumonia, Microcephaly |
ORPHA:647 |
Nocardiosis |
|
Productive cough, Pneumonia, Pneumothorax, Respiratory distress, Nonproductive cough, Respiratory... |
ORPHA:31204 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Retinal dystrophy, Reduced bone mineral density |
OMIM:617052 |
Malignant Atrophic Papulosis |
|
Respiratory failure, Pleural effusion |
ORPHA:679 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Obstructive sleep apnea, Oral-pharyngeal dysphagia, Respiratory insuff... |
ORPHA:273 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Dysphagia, Dysplastic corpus callosum, Abnormal cerebral cortex morphology, Simplified gyral patt... |
ORPHA:500150 |
Niemann-Pick Disease Type C |
|
Dysphagia, Respiratory insufficiency, Frontal cortical atrophy, Cerebral atrophy, Respiratory fai... |
ORPHA:646 |
Stankiewicz-Isidor Syndrome |
|
Hyperactivity, Abnormality of the optic disc |
OMIM:617516 |
Choreoacanthocytosis |
|
Hair-pulling, Lingual dystonia, Loss of ambulation, Self-injurious behavior, Oromandibular dyston... |
ORPHA:2388 |
Citrullinemia Type Ii |
|
Hyperactivity, Aggressive behavior, Irritability, Lethargy |
ORPHA:247585 |
Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Abnormality of retinal pigmentation, Retinal degeneration, Aggressive behavior, Ab... |
ORPHA:580 |
Hyperthyroidism, Nonautoimmune |
|
Hyperactivity |
OMIM:609152 |
White-Sutton Syndrome |
|
Optic atrophy, Self-injurious behavior, Aggressive behavior, Rod-cone dystrophy, Hyperactivity |
ORPHA:468678 |
Hemorrhagic Fever-Renal Syndrome |
|
Pneumonia, Epistaxis, Cough, Respiratory distress, Respiratory failure, Dyspnea, Pleural effusion |
ORPHA:340 |
Bloom Syndrome |
|
Respiratory failure, Rhinitis, Chronic pulmonary obstruction, Pneumonia |
ORPHA:125 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Self-biting, Aggressive behavior, Hyperactivity, Ataxia, Anxiety |
OMIM:300912 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking |
ORPHA:139396 |
Argininemia |
|
Hyperactivity, Spastic gait, Irritability |
OMIM:207800 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea, Microcephaly |
ORPHA:2554 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity |
OMIM:609727 |
7Q11.23 Microduplication Syndrome |
|
Dysmetria, Self-injurious behavior, Aggressive behavior, Craniosynostosis, Abnormality of the opt... |
ORPHA:96121 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure |
ORPHA:158687 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Broad-based gait |
ORPHA:85293 |
Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency, Microcephaly |
OMIM:139210 |
Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Dysmetria, Aggressive behavior, Hyperactivity, Ataxia, Unsteady gait |
OMIM:614756 |
Listeriosis |
|
Respiratory failure, Respiratory distress, Pneumonia |
ORPHA:533 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polydipsia, Hypoventilation, Recurrent pneumonia, Spontaneous pneumothorax, Respiratory failure |
ORPHA:731 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Stridor, Pneumonia, Pneumothorax, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:79404 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hyperactivity, Ataxia |
ORPHA:760 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Optic atrophy, Self-injurious behavior, Retinal dystrophy, Hyperactivity, Anxiety |
OMIM:619512 |
Wiedemann-Steiner Syndrome |
|
Aggressive behavior, Hyperactivity, Anxiety, Low frustration tolerance |
ORPHA:319182 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Respiratory failure, Dyspnea, Microcephaly |
ORPHA:2636 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Dystonia, Violent behavior, Chorioretinal coloboma, Torticollis, Suicidal ideation, Aggressive be... |
OMIM:619475 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hyperactivity, Gait disturbance, Anxiety, Optic disc pallor |
ORPHA:464306 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity |
ORPHA:99819 |
Brooks-Wisniewski-Brown syndrome |
|
Hyperactivity, Optic atrophy |
OMIM:300612 |
Legius Syndrome |
|
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:137605 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Self-injurious behavior, Aggressive behavior... |
ORPHA:353281 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity |
ORPHA:424 |
Monosomy 9Q22.3 |
|
Hyperactivity, Retinopathy |
ORPHA:77301 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Hair-pulling, Irritability |
ORPHA:447997 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Optic nerve hypoplasia |
ORPHA:457284 |
Early Infantile Epileptic Encephalopathy |
|
Hyperactivity, Dystonia, Self-injurious behavior, Episodic ataxia |
ORPHA:1934 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Self-mutilation, Hyperactivity, Impulsivity, Difficulty walking, Abnormal emotion/affect behavior... |
ORPHA:642 |
Ulbright-Hodes Syndrome |
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Respiratory failure, Pneumothorax, Respiratory distress |
ORPHA:3404 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
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Polymicrogyria |
ORPHA:488613 |
Myelodysplastic Syndrome |
|
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OMIM:614286 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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OMIM:616973 |
Leukemia, Acute Lymphoblastic |
|
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OMIM:613065 |