Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Basal Ganglia Calcification, Idiopathic, 4 |
|
Depression, Bipolar affective disorder, Attention deficit hyperactivity disorder, Dementia |
OMIM:615007 |
Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... |
ORPHA:280397 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Attention deficit hyperactivity disorder, Shyness |
OMIM:618221 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Abnormal repetitive mannerisms, Impaired social interactions, Inability to walk |
OMIM:606053 |
Asperger syndrome susceptibility, X-linked 2 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:300497 |
Asperger Syndrome, Susceptibility To, 1 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:608631 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Autism |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired social interactions, Unsteady gait, Abnormal repetitive mannerisms, Impaired ability to ... |
OMIM:608636 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Impaired social interactions |
OMIM:618103 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity |
OMIM:300830 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Perching Syndrome |
|
Dysphagia, Cyanosis, Respiratory distress |
OMIM:617055 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Normal interictal EEG, Apnea |
OMIM:607745 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
Asbestos Intoxication |
|
Atelectasis, Hypoxemia, Reduced forced vital capacity, Reduced vital capacity, Respiratory failur... |
ORPHA:2302 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Chronic sinusitis, Atelectasis, Chronic pulmonary obstruction, ... |
OMIM:253240 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Decreased miniature endp... |
OMIM:254210 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea, Cyanotic episode, Myoclonus, Hypertonia |
OMIM:610992 |
Pick Disease Of Brain |
|
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Irritability, Abnormal repetitive mann... |
OMIM:172700 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Normal interictal EEG, Apnea |
OMIM:601764 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia |
OMIM:141000 |
Ravine Syndrome |
|
Spasticity, Ataxia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, ... |
ORPHA:99852 |
Bronchopulmonary Dysplasia |
|
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ventricular failure, Cough, T... |
ORPHA:70589 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Neonatal respiratory distress, Aspiration, Dyspnea, Stri... |
ORPHA:2004 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Chronic sinusitis, Atelectasis, Decreased nasal nitric oxide, Recu... |
OMIM:615294 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
Laryngotracheal Angioma |
|
Intercostal retractions, Cough, Apnea, Respiratory distress, Cyanosis, Stridor, Wheezing |
ORPHA:137935 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Decreased miniature endp... |
OMIM:605809 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Ataxia, Bruxism, Inappropriate laughter, Abnormal repetitive mannerisms, Aggressive behavi... |
OMIM:619150 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Impaired social interactions, Inability to walk, Self-injurious behavior, Abnormal repetitive man... |
OMIM:617820 |
Recurrent Respiratory Papillomatosis |
|
Tracheomalacia, Dyspnea, Tachypnea, Stridor, Atelectasis, Respiratory insufficiency, Syncope, Non... |
ORPHA:60032 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Infant Acute Respiratory Distress Syndrome |
|
Cardiac arrest, Bradycardia, Atelectasis, Hypotension, Hypoxemia, Respiratory tract infection, Pu... |
ORPHA:70587 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Meconium Aspiration Syndrome |
|
Transient pulmonary infiltrates, Pulmonary arterial hypertension, Aspiration pneumonia, Abnormal ... |
ORPHA:70588 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent pne... |
OMIM:616726 |
Acute Interstitial Pneumonia |
|
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Dyspnea, Tachypnea, Pleura... |
ORPHA:79126 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Respiratory distress, Bronchiectasis, Abnormal muc... |
OMIM:619466 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory insufficiency, Death in infancy, Rigidity, Apnea, Respiratory failure, Hypertonia |
OMIM:613869 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Central apnea, Myoclonus, Paralysis, Cyanosis, ... |
ORPHA:71277 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Ground-glass opacification, Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspn... |
OMIM:265120 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Emotional lability, Self-mutilation, Inability to walk, Inappropriate laughter, Tremor, Waddling ... |
OMIM:616269 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Impaired social interactions |
OMIM:611092 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Cough, Respiratory distress, Respiratory failure, Tachypnea, Cyanosis |
OMIM:263000 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Usual interstitial pneumonia, Respiratory failu... |
OMIM:610921 |
Pontocerebellar Hypoplasia Type 4 |
|
Olivopontocerebellar hypoplasia, Central apnea, Hypoplasia of the brainstem, Myoclonus, Respirato... |
ORPHA:166063 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Death in adolescence, Neonatal death, Dysphagia, Respiratory dis... |
OMIM:619751 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Chronic sinusitis, Atelectasis |
OMIM:300455 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hyperventilation, Cough, Hypoxemia, Respiratory distress, Reduced forced... |
ORPHA:91359 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Atelectasis, Respiratory distress, Pulmonary edema, Tachy... |
OMIM:267450 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Laryngeal Abductor Paralysis |
|
Dysphagia, Stridor, Cyanosis |
OMIM:150260 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Hypsarrhythmia, Death in infancy |
OMIM:616341 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Hyperactivity, Bruxism, Paroxysmal bursts of laughter, Tremor, Self-injurious ... |
OMIM:618718 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Dyspnea, Abnormal pulmonary thoracic imaging finding, Atelectasis, Restrictive ventilatory defect... |
ORPHA:2902 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spinocerebellar Ataxia 40 |
|
Unsteady gait, Pontocerebellar atrophy, Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait at... |
OMIM:616053 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ground-glass opacification, Recurrent respiratory infections, Neonatal respiratory distress, Whee... |
OMIM:610978 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Tetraparesis, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Ataxia, Restlessness,... |
ORPHA:263410 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... |
OMIM:610913 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal eating behavior, Hyperactivity, Anxiety, Abnormal social behavior, Aggressive behavior, ... |
ORPHA:101039 |
Pleural Mesothelioma |
|
Dyspnea, Abnormal respiratory system physiology, Cough, Dysphagia, Respiratory distress, Pleural ... |
ORPHA:50251 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:124900 |
N-Acetylaspartate Deficiency |
|
Self-mutilation, Unsteady gait, Broad-based gait, Abnormal repetitive mannerisms, Decreased body ... |
OMIM:614063 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Cryptogenic Organizing Pneumonia |
|
Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Crackles, Pneumo... |
ORPHA:1302 |
Familial Nasal Acilia |
|
Chronic sinusitis, Dyspnea, Atelectasis, Chronic rhinitis, Respiratory distress, Bronchiectasis, ... |
ORPHA:922 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
Joubert Syndrome 33 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia, Apnea |
OMIM:617767 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Eosinophilia, Familial |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
OMIM:131400 |
Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, Periodic paralysis, Gait disturbance, Apnea |
OMIM:614198 |
Dystonia 11, Myoclonic |
|
Agoraphobia, Alcoholism, Anxiety, Panic attack, Depression |
OMIM:159900 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Death in infancy, Central apnea, Respiratory failure, Hypertonia |
OMIM:611722 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Atrophy/Degeneration affecting the brainstem, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
Gaucher Disease Type 2 |
|
Dysphagia, Respiratory distress, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Cyanosis |
ORPHA:91130 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Severe Acute Respiratory Syndrome |
|
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic lung disea... |
ORPHA:140896 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
Dopa-Responsive Dystonia |
|
Emotional lability, Agoraphobia, Dystonia, Inability to walk, Gait disturbance, Difficulty walkin... |
ORPHA:255 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Choanal Atresia |
|
Tracheomalacia, Chronic sinusitis, Respiratory distress, Upper airway obstruction, Cyanosis, Chok... |
ORPHA:137914 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... |
OMIM:619271 |
Cardiomyopathy, Dilated, 2H |
|
Cardiorespiratory arrest, Neonatal death, Tachypnea |
OMIM:620203 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Inappropriate laughter |
OMIM:619323 |
Bullous Dystrophy, Hereditary Macular Type |
|
Death in childhood, Acrocyanosis |
OMIM:302000 |
Foxg1 Syndrome |
|
Impaired social interactions, Inability to walk, Difficulty walking, Bruxism, Paroxysmal bursts o... |
ORPHA:561854 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:176860 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia |
OMIM:133180 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Impaired social interactions, No social interaction |
ORPHA:329249 |
Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... |
OMIM:173590 |
Obsolete: Early-Onset Schizophrenia |
|
Polyphagia, Emotional lability, Suicidal ideation, Shyness, Restlessness, Decreased male libido, ... |
ORPHA:96369 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Overweight, Difficulty walking, Shyness, Waddling gait, Abnormal repetitive mannerisms, Dystonia |
ORPHA:280763 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing |
ORPHA:397933 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:616515 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Pica, Abnormal repetitive mannerisms, Aggressive behavior, Choreoathetosis |
OMIM:617270 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Tachypnea, Restrictive ventilatory defect, Cough, Hypoxemia, Respiratory distress, Acute infectio... |
ORPHA:264675 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dyston... |
ORPHA:98807 |
Hyperlysinemia, Type I |
|
Cognitive impairment, Hyperactivity |
OMIM:238700 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors... |
ORPHA:444002 |
Frontotemporal Dementia |
|
Polyphagia, Apathy, Disinhibition, Inappropriate laughter, Dementia, Frontal lobe dementia, Irrit... |
OMIM:600274 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis |
ORPHA:2901 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Inspiratory crackles, Recurrent respiratory infections, Lung abscess, Dyspnea, Decreased DLCO, Re... |
OMIM:610910 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Atelectasis, Respiratory insufficiency, Productive ... |
ORPHA:3348 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Aggressive behavior, Emotional lability, Agitation |
OMIM:617171 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Abnormal repetitive mannerisms, Hyperactivity |
OMIM:300271 |
Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Absent brainstem auditory responses, Attention deficit hyperactivity disorder,... |
ORPHA:52368 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Anxiety, Attention deficit hyperactivity disorder, Failure to thrive in infancy, Self-injurious b... |
OMIM:613670 |
Bronchogenic Cyst |
|
Dyspnea, Atelectasis, Cough, Abnormal pleura morphology, Dysphagia, Bronchogenic cyst, Pulmonary ... |
ORPHA:2357 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Ataxia, Central hypoventilation, Dysphagia, Sleep apnea, Apnea, Respiratory failure, Broad-based ... |
OMIM:618233 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Delayed social development, Recurrent hand flapping |
OMIM:618147 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hsd10 Disease |
|
Gait disturbance, Ataxia, Abnormal social behavior, Dysphagia, Tremor, Choreoathetosis |
ORPHA:391417 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Dyspnea, Aspiration pneumonia, Cough, Dysphagia, Ab... |
ORPHA:90117 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Hyperactivity, Gait disturbance, Tremor, Gait ataxia, Delayed social developme... |
OMIM:618090 |
Congenital Myopathy 10A, Severe Variant |
|
Restrictive ventilatory defect, Abnormal motor nerve conduction velocity, Respiratory insufficien... |
OMIM:614399 |
Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Spasticity, Atrophy/Degeneration affecting the brainstem, Death in infancy, Apnea, Respiratory fa... |
OMIM:616277 |
Pulmonary Capillary Hemangiomatosis |
|
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorr... |
ORPHA:199241 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Small for gestational age, Gait disturbance, Hyperactivity, Ataxia, Inappropriate laughter, Failu... |
OMIM:614104 |
Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Gait disturbance, Falls, Atrophy/Degeneration affecting the brainstem, Action myoclo... |
OMIM:616230 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Interlobular septal thickening, Elevated jugular venous pressure... |
OMIM:265450 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Right bundle branch block, Exertional ... |
ORPHA:254361 |
Autism, Susceptibility To, 3 |
|
Abnormal repetitive mannerisms, Impaired ability to form peer relationships |
OMIM:608049 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Spinocerebellar Ataxia Type 1 |
|
Gait disturbance, Progressive cerebellar ataxia, Atrophy/Degeneration affecting the brainstem, Ab... |
ORPHA:98755 |
Obsessive-Compulsive Disorder |
|
Anxiety, Depression, Skin-picking |
OMIM:164230 |
Huntington Disease-Like 1 |
|
Restlessness, Anxiety, Dementia, Depression, Aggressive behavior |
OMIM:603218 |
Myoclonus, Intractable, Neonatal |
|
Impaired oral bolus formation, Chorea, Dysphagia, Apnea, Athetosis, Myoclonus |
OMIM:617235 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy |
OMIM:619099 |
Cdkl5-Deficiency Disorder |
|
Gait disturbance, Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand wringing |
ORPHA:505652 |
Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Hyperactivity, Anxiety, Failure to thrive, Gait ataxia, Abnormal repet... |
OMIM:609425 |
Joubert Syndrome 7 |
|
Oculomotor apraxia, Ataxia, Neonatal breathing dysregulation, Brainstem dysplasia, Episodic tachy... |
OMIM:611560 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Dyspnea, Reduced FEV1/FVC ratio, Decreased DLCO, Cough, Decreased forced expiratory flow 25-75%, ... |
ORPHA:1303 |
Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depression |
OMIM:619191 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Chronic pulmonary obstruction, Cough, Respiratory distress, Cyan... |
ORPHA:2414 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Tachypnea |
OMIM:620085 |
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae |
|
Impaired social interactions |
OMIM:617051 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Hand tremor, Dysphagia, Gait ataxia, Abnormal repetitive mannerisms, Recurrent hand flapping, Bro... |
OMIM:617862 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Spasticity, Ataxia, Respiratory insufficiency, Rigidity, Apnea, Neonatal death, Respiratory failure |
OMIM:610127 |
Christianson Syndrome |
|
Dystonia, Conspicuously happy disposition, Inappropriate laughter, Cachexia, Dysphagia, Gait atax... |
ORPHA:85278 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Tachypnea |
OMIM:616414 |
Benign Familial Neonatal Epilepsy |
|
Limb myoclonus, Clonus, Circumoral cyanosis, Apnea |
ORPHA:1949 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Fatigable weakness of respiratory muscles, Restrictive ventilatory defect, Decreased miniature en... |
ORPHA:98913 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Normal interictal EEG, Apnea, Interictal epileptiform activity |
ORPHA:306 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Agitation, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavio... |
OMIM:309548 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Obesity-Hypoventilation Syndrome |
|
Cyanosis, Hypoventilation |
OMIM:257500 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Tremor, Abnormal repetitive mannerisms, Aggressive behavior, Broad-based gait |
OMIM:619470 |
Thyroid Lymphoma |
|
Dyspnea, Dysphagia, Upper airway obstruction, Respiratory distress, Stridor |
ORPHA:97285 |
Fraxe Intellectual Disability |
|
Hyperactivity, Agitation, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavio... |
ORPHA:100973 |
Acute Lung Injury |
|
Dyspnea, Alcoholism, Hypoxemia, Respiratory distress, Respiratory failure, Pneumonia, Tachypnea |
ORPHA:178320 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity |
OMIM:601382 |
Childhood Disintegrative Disorder |
|
Abnormal repetitive mannerisms, Anxiety, Impaired social interactions, Abnormal emotion/affect be... |
ORPHA:168782 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Gand Syndrome |
|
Inappropriate laughter, Hyperactivity |
OMIM:615074 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Obsolete: Arnold-Chiari Malformation Type Ii |
|
Spasticity, Brain stem compression, Somatic sensory dysfunction, Ataxia, Difficulty walking, Para... |
ORPHA:1136 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Inspiratory crackles, Dyspnea, Reduced FEV1/FVC ratio, Chronic pulmon... |
ORPHA:79127 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Cleft Larynx, Posterior |
|
Cyanosis, Aspiration |
OMIM:215800 |
Manganese Poisoning |
|
Emotional lability, Dystonia, Gait disturbance, Decreased male libido, Inappropriate laughter, De... |
ORPHA:306682 |
Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
Developmental And Epileptic Encephalopathy 61 |
|
Spasticity, Loss of ambulation, Apnea |
OMIM:617933 |
Intellectual Developmental Disorder, X-Linked 1 |
|
No social interaction |
OMIM:309530 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Decreased DLCO, Restrictive ventilatory defect, Reduced forced expiratory volume in one second, R... |
OMIM:300770 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Irritability |
ORPHA:30925 |
Familial Pseudohyperkalemia |
|
Episodic hemolytic anemia, Reticulocytosis, Hyperkalemia, Increased mean corpuscular volume, Stom... |
ORPHA:90044 |
Atypical Rett Syndrome |
|
Spasticity, Impaired pain sensation, Limb myoclonus, Inability to walk, Gait disturbance, Agitati... |
ORPHA:3095 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Limb myoclonus, Limb ataxia, Torticollis, Somatic sensory dysfunction, Atrophy/Degeneration affec... |
OMIM:619862 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Overweight, Inability to walk, Shyness, Waddling gait, Dystonia |
OMIM:614066 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Bruxism, Inappropriate laughter, Oculogyric crisis, Self-injurious behavior, S... |
OMIM:614254 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
Huntington Disease-Like 2 |
|
Subcortical dementia, Apathy, Anxiety, Dementia, Irritability, Inertia, Memory impairment, Depres... |
OMIM:606438 |
Hyperprolinemia, Type I |
|
Abnormal repetitive mannerisms, Aggressive behavior, Hyperactivity, Ataxia |
OMIM:239500 |
Staphylococcal Necrotizing Pneumonia |
|
Dyspnea, Tachypnea, Alcoholism, Cough, Hypoxemia, Nonproductive cough, Respiratory distress, Pleu... |
ORPHA:36238 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Dysphagia, Ga... |
OMIM:615157 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Acrocyanosis, Atelectasis |
ORPHA:896 |
Pontocerebellar Hypoplasia, Type 16 |
|
Spastic tetraplegia, Limb hypertonia, Hypoplasia of the pons, Abnormality of extrapyramidal motor... |
OMIM:619527 |
Pontocerebellar Hypoplasia Type 2 |
|
Impaired oropharyngeal swallow response, Spasticity, Upper limb hypertonia, Babinski sign, Apnea,... |
ORPHA:2524 |
Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity |
OMIM:605899 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Emphysema, Hereditary Pulmonary |
|
Chronic bronchitis, Emphysema, Chronic pulmonary obstruction |
OMIM:130700 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, EEG abnormality, Dysphagia, Facial palsy, Sensorineural hear... |
OMIM:617519 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Miscarriage, Pulmonary embolism |
ORPHA:82 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Frontalis muscle weakness... |
OMIM:300580 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Dyspnea, Heart murmur, Cough, Palpitations, Hypoxemia, Ischemic ... |
ORPHA:2038 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Death in childhood, Ataxia, Apnea, Myoclonus |
OMIM:618225 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia |
ORPHA:240085 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Impaired social interactions, Attention deficit hyperactivity disorder |
ORPHA:137831 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Erythema, Angioedema, Respiratory distress, Upper airway obstruction, Urticaria |
ORPHA:100057 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... |
OMIM:234810 |
Pitt-Hopkins-Like Syndrome 1 |
|
Impaired social interactions, Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Ab... |
OMIM:610042 |
Hereditary Methemoglobinemia |
|
Spasticity, Spastic tetraplegia, Athetosis, Cyanosis, Hypertonia, Exertional dyspnea |
ORPHA:621 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:620152 |
Pontocerebellar Hypoplasia, Type 6 |
|
Spasticity, Death in childhood, Atrophy/Degeneration affecting the brainstem, Apnea, Upper limb s... |
OMIM:611523 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... |
OMIM:607616 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Inappropriate laughter, Happy demeanor, Broad-based gait, Obesity |
ORPHA:411515 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Respiratory insufficiency, Respiratory insufficienc... |
ORPHA:254875 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, Ataxia, Abnormal motor evoked potentials, Abnormal auditory evoked potentials... |
ORPHA:320401 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Recurre... |
OMIM:620233 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Self-mutilation, Hyperactivity, Simplified gyral pattern, Gray matter heterotopia... |
OMIM:604317 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic tetraplegia, Parkinsonism, Ataxia, Restlessness, Apraxia, Apnea, Tremor, Bradykinesia, Sp... |
OMIM:300055 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Gait ataxia, Spastic paraplegia, Central apnea, Spastic gait, Dysmetria |
OMIM:615031 |
Ethylmalonic Encephalopathy |
|
Abnormal pyramidal sign, Abnormal brainstem MRI signal intensity, Ataxia, Abnormality of extrapyr... |
ORPHA:51188 |
Epilepsy, Early-Onset, Vitamin B6-Dependent |
|
Respiratory insufficiency, Hypertonia, Myoclonus, Apnea |
OMIM:617290 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:721 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Restrictive ventilatory defect, Abnormal breath sound, Hypoxemia, ... |
ORPHA:2257 |
Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Inappropriate laughter, Recurrent hand flapping |
OMIM:618859 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Abnormal brainstem MRI signal intensity, Impaired distal vibration sensation, Progressive spastic... |
ORPHA:320365 |
Monosodium Glutamate Sensitivity |
|
Flushing, Dyspnea |
OMIM:231630 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Spasticity, Apneic episodes in infancy |
ORPHA:500545 |
2Q23.1 Microdeletion Syndrome |
|
Polyphagia, Hyperactivity, Ataxia, Paroxysmal bursts of laughter, Self-injurious behavior, Abnorm... |
ORPHA:228402 |
Lennox-Gastaut Syndrome |
|
Myoclonus, Abnormal brainstem morphology, Hyperactivity, Falls |
ORPHA:2382 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Dyspnea, Chronic pulmonary obstruction, Cough, Respiratory distress, Bronchiectasis, Pneumothorax... |
ORPHA:411703 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis, Hypertonia, Opisthotonus, Exertional dyspnea |
OMIM:250800 |
Anaplastic Thyroid Carcinoma |
|
Dyspnea, Cough, Dysphagia, Upper airway obstruction, Respiratory distress, Stridor |
ORPHA:142 |
Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms, Ataxia, Hyperactivity, Abnormal social behavior |
ORPHA:530983 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Obsessive-compulsive trait, Abnormal eating behavior, Impaired social interactions, Gait disturba... |
ORPHA:544254 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Apathy, Restlessness, Collectionism, Disinhibition, Abulia, Irritability, Abnor... |
ORPHA:275864 |
Joubert Syndrome 9 |
|
Episodic tachypnea, Molar tooth sign on MRI, Oculomotor apraxia, Apnea |
OMIM:612285 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Folinic Acid-Responsive Seizures |
|
Ataxia, Difficulty walking, Chorea, Respiratory distress, Apnea, Spastic tetraparesis, Hypertonia... |
ORPHA:79097 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Impaired social interactions, Hyperactivity, Shyness, Anxiety, Attention deficit hyperactivity di... |
ORPHA:449291 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Emotional lability, Inability to walk, Ataxia, Anxiety, Attention deficit hyperactivity disorder,... |
OMIM:619580 |
Presynaptic Congenital Myasthenic Syndromes |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Stridor, Central sleep... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Intermittent episodes of respiratory insufficiency due to muscle weakness, Stridor, Central sleep... |
ORPHA:590 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... |
OMIM:241150 |
Nemaline Myopathy 2 |
|
Frequent falls, Inability to walk, Gait disturbance, Respiratory insufficiency due to muscle weak... |
OMIM:256030 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Neonatal death |
OMIM:300219 |
Leukodystrophy, Hypomyelinating, 4 |
|
Progressive spasticity, Head titubation, Apnea, Spastic paraplegia, Babinski sign, Choreoathetosis |
OMIM:612233 |
Autism, Susceptibility To, X-Linked 3 |
|
Abnormal repetitive mannerisms |
OMIM:300496 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overweight |
OMIM:620065 |
Autism, Susceptibility To, X-Linked 1 |
|
Abnormal repetitive mannerisms |
OMIM:300425 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Dysphagia, Respiratory insufficiency due to muscle weakness, Respiratory distress |
OMIM:613561 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Spastic tetraplegia, Ataxia, Atrophy/Degeneration affecting the brainstem, Attention deficit hype... |
OMIM:619971 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Dysphagia, Oculomotor apraxia, Respiratory insufficiency, Apnea |
OMIM:618198 |
Heparin-Induced Thrombocytopenia |
|
Myocardial infarction, Abnormal onset of bleeding, Cerebral ischemia, Pulmonary embolism |
ORPHA:3325 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Pseudobulbar paralysis, Aggressive behavior, Suicidal ide... |
ORPHA:208441 |
Pulmonary Alveolar Microlithiasis |
|
Subpleural interstitial thickening, Hypoxemia, Respiratory failure, Pneumothorax, Cyanosis, Oxyge... |
ORPHA:60025 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... |
OMIM:155100 |
Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... |
OMIM:603552 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Pontocerebellar Hypoplasia, Type 11 |
|
Limb ataxia, Inability to walk, Ataxia, Difficulty walking, Attention deficit hyperactivity disor... |
OMIM:617695 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
X-Linked Centronuclear Myopathy |
|
Fatigable weakness of bulbar muscles, Respiratory distress, Fatigable weakness of swallowing musc... |
ORPHA:596 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Abnormal repetitive mannerisms, Irritability, Difficulty walking, Failure to thrive |
OMIM:617393 |
Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, EEG with persistent abnormal rhythmic activity, Ataxia, Difficulty walking, Los... |
ORPHA:206443 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:612336 |
Central Diabetes Insipidus |
|
Polydipsia, Depression, Anxiety |
ORPHA:178029 |
Developmental And Epileptic Encephalopathy 58 |
|
Abnormal repetitive mannerisms, Inability to walk |
OMIM:617830 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Dysdiadochokinesis, Gait ataxia, Intention tremor, Delayed social development, Dysmetria |
ORPHA:208513 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Chronic sinusitis, Wheezing, A... |
ORPHA:244 |
Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Impaired social interactions, Ataxia, Anxiety, Dysphagia, Tremor, Action tremor, Aggressive behav... |
OMIM:619738 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Abnormal pyramidal sign, Ataxia, Respiratory insufficiency, Apnea, Sleep apnea |
OMIM:618228 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Abnormal pyramidal sign, Gait disturbance, Unsteady gait, Ataxia, Clonus, Respiratory insufficien... |
OMIM:616479 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia |
OMIM:615008 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Progressive sensorineural hearing ... |
OMIM:125250 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Gómez-López-Hernández Syndrome |
|
Impaired pain sensation, Abnormal brainstem morphology, Ataxia |
ORPHA:1532 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia, Cyanosis |
ORPHA:464453 |
Baker-Gordon Syndrome |
|
Inability to walk, Ataxia, Self-injurious behavior, Abnormal repetitive mannerisms, Choreoathetos... |
OMIM:618218 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Decreased body weight, Paroxysmal bursts of laughter |
OMIM:618347 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Dyspnea, Decreased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Crazy paving pattern, ... |
ORPHA:747 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Hypokal... |
OMIM:611590 |
Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
Liddle Syndrome 3 |
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Decreased circulating renin level, Hypokalemia |
OMIM:618126 |
Acquired Idiopathic Sideroblastic Anemia |
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Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
X-Linked Intellectual Disability, Van Esch Type |
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Impaired social interactions, Attention deficit hyperactivity disorder, Failure to thrive, Hyperg... |
ORPHA:163976 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
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Gait disturbance, Apathy, Restlessness, Disinhibition, Abnormal repetitive mannerisms, Aggressive... |
OMIM:600795 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Disinhibition, Abnormal social behavior, Agitation |
ORPHA:1020 |
Congenital Diaphragmatic Hernia |
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Respiratory distress, Hypoxemia |
ORPHA:2140 |
Marcus-Gunn Syndrome |
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Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Optic Atrophy 8 |
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Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Sensorineural hea... |
OMIM:616648 |
Renal Glucosuria |
|
Polyphagia, Polydipsia |
OMIM:233100 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
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Gait ataxia, Central apnea, Dysmetria |
ORPHA:320385 |
Interstitial Lung Disease 2 |
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Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... |
OMIM:178500 |
Thrombophilia Due To Thrombomodulin Defect |
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Pulmonary embolism |
OMIM:614486 |
Breath-Holding Spells |
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Cyanosis |
OMIM:607578 |
Combined Oxidative Phosphorylation Deficiency 30 |
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Respiratory distress, Death in infancy |
OMIM:616974 |
Mitochondrial Phosphate Carrier Deficiency |
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Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
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Respiratory distress |
OMIM:617977 |
Angelman Syndrome Due To A Point Mutation |
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Abnormal eating behavior, Ataxia, Inappropriate laughter, Dysphagia, Gait imbalance, Tongue thrus... |
ORPHA:411511 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
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Dystonia, Inability to walk, Self-injurious behavior, Gait ataxia, Stereotypical hand wringing, A... |
OMIM:618917 |
Cryofibrinogenemia, Familial Primary |
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Acrocyanosis |
OMIM:123540 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... |
OMIM:300835 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
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Emotional lability, Apathy, Disinhibition, Dysphagia, Abnormal repetitive mannerisms |
OMIM:612069 |
Joubert Syndrome 30 |
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Molar tooth sign on MRI, Apnea, Tachypnea |
OMIM:617622 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
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Pulmonary embolism |
OMIM:301071 |
Hypokalemic Periodic Paralysis, Type 1 |
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Hypokalemia |
OMIM:170400 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
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Ataxia, Respiratory insufficiency, Apnea, Dysphagia, Babinski sign |
OMIM:618226 |
Adult Krabbe Disease |
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Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Abnormal pons morpholog... |
ORPHA:206448 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
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Respiratory insufficiency, Rigidity, Central hypoventilation, Apnea, Myoclonus |
OMIM:300673 |
Juvenile Neuronal Ceroid Lipofuscinosis |
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Myoclonic spasms, Parkinsonism, Aspiration pneumonia, Clumsiness, Loss of ambulation, Apnea, Dysp... |
ORPHA:79264 |
Hypocalcemia, Autosomal Dominant 1 |
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Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Thrombocythemia 1 |
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Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... |
OMIM:187950 |
Chiari Malformation Type Ii |
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Ataxia, Dysphagia, Opisthotonus, Cyanosis, Inspiratory stridor |
OMIM:207950 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Dysphagia, Respiratory distress |
ORPHA:240103 |
Type 1 Diabetes Mellitus |
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Polyphagia, Polydipsia |
OMIM:222100 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
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Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
Atypical Hemolytic Uremic Syndrome |
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Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Mannosidosis, Beta A, Lysosomal |
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Aggressive behavior, Hyperactivity |
OMIM:248510 |
Idiopathic Bronchiectasis |
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Dyspnea, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Wheezing, Productive cou... |
ORPHA:60033 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... |
OMIM:613101 |
Encephalopathy, Ethylmalonic |
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Ataxia, Death in infancy, Abnormality of extrapyramidal motor function, Petechiae, Babinski sign,... |
OMIM:602473 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity, Paroxysmal dyspnea, Respiratory failure, Cyanosis, Stridor |
ORPHA:444013 |
Atrial Septal Defect, Ostium Secundum Type |
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Tricuspid regurgitation, Transient ischemic attack, Supraventricular arrhythmia, Breathing dysreg... |
ORPHA:99103 |
Ataxia-Pancytopenia Syndrome |
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Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
Childhood Absence Epilepsy |
|
Anxiety, Attention deficit hyperactivity disorder, Punding, Abnormal social behavior |
ORPHA:64280 |
Cernunnos-Xlf Deficiency |
|
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia |
ORPHA:169079 |
Joubert Syndrome 3 |
|
Oculomotor apraxia, Ataxia, Neonatal breathing dysregulation, Elongated superior cerebellar pedun... |
OMIM:608629 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Thrombocytopenia |
OMIM:314000 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia, Subcutaneous hemorrhage |
ORPHA:238459 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, EEG abnormality, Optic atrophy, Apnea |
OMIM:261680 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
Methionine Malabsorption Syndrome |
|
Tachypnea |
OMIM:250900 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Abnormal eating behavior, Hyperactivity, Ataxia, Inappropriate laughter, Dysphagia, Tremor, Gait ... |
ORPHA:98794 |
Avian Influenza |
|
Miscarriage, Dyspnea, Tachypnea, Cough, Productive cough, Hypoxemia, Nonproductive cough, Respira... |
ORPHA:454836 |
Moyamoya Disease With Early-Onset Achalasia |
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Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Dyspnea, Systolic heart murmur, Right ventricular failure, Synco... |
ORPHA:99104 |
Ciliary Dyskinesia, Primary, 1 |
|
Chronic sinusitis, Atelectasis, Chronic rhinitis, Bronchiectasis, Pneumonia, Immotile cilia, Recu... |
OMIM:244400 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Inappropriate behavior, Apathy, Anxiety, Motor deterioration, Dementia, Frontotemporal dementia, ... |
ORPHA:412066 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Oculomotor apraxia, Ataxia |
OMIM:616781 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Cyanosis |
OMIM:619793 |
Pontocerebellar Hypoplasia Type 10 |
|
Spasticity, Abnormal brainstem morphology, Hypertonia |
ORPHA:411493 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Abnormal EKG, Right bundle branch block, Third heart sound, Systolic hea... |
ORPHA:1329 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress, Death in infancy |
OMIM:615042 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Memory impairment, Self-inj... |
OMIM:619827 |
Atrial Septal Defect, Ostium Primum Type |
|
Tricuspid regurgitation, Cyanosis, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dila... |
ORPHA:99106 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Abnormal repetitive mannerisms, Self-injurious behavior |
OMIM:615282 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
Phenylketonuria |
|
Self-mutilation, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Irritability, ... |
OMIM:261600 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Dyspnea, Pleural effusion, Restrictive ventilatory defect, Hypox... |
OMIM:612387 |
Dravet Syndrome |
|
Parkinsonism, Cogwheel rigidity, Progressive gait ataxia, Rigidity, Bradykinesia, Cyanotic episod... |
ORPHA:33069 |
Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
X-Linked Intellectual Disability, Cilliers Type |
|
Male hypogonadism, Failure to thrive, Shyness, Hypergonadotropic hypogonadism |
ORPHA:163971 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Myoclonic spasms, Limb hypertonia, Clonus, Death in infancy, Rigidity, Apnea, Babinski sign, Hype... |
OMIM:614498 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Spasticity, Neonatal respiratory distress, Death in childhood, Ataxia, Hypopnea, Death in infancy... |
OMIM:618426 |
Bernard-Soulier Syndrome |
|
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... |
OMIM:231200 |
Leigh Syndrome With Leukodystrophy |
|
Spasticity, Progressive spastic paraplegia, Progressive cerebellar ataxia, Apnea |
ORPHA:255241 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Difficulty walking, Ankle clonus, Atrophy/Degeneration affecting the brainstem, Dysdiadoc... |
OMIM:612319 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Spasticity, Death in infancy, Apnea |
OMIM:618235 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Orofaciodigital Syndrome Xvi |
|
Oculomotor apraxia, Inability to walk, Ataxia, Apnea, Molar tooth sign on MRI |
OMIM:617563 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress |
ORPHA:26792 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |